diff --git a/dot_plot/dot_plot_v2.py b/dot_plot/dot_plot_v2.py index 3c6c43d..07855bb 100755 --- a/dot_plot/dot_plot_v2.py +++ b/dot_plot/dot_plot_v2.py @@ -2188,7 +2188,7 @@ def main(): ############################### SUMMARY ############################### # Write summary output file - with open('log.txt', 'w') as out: + with open(f'log_{args.clinvar_class_type}.txt', 'w') as out: summary, summary_df = generate_summary(data = dataframe, d_cutoff = args.demask_threshold, r_cutoff = args.revel_threshold, @@ -2232,7 +2232,7 @@ def main(): ################################# AM CSV ################################# filtered_am = filter_vep_summary(summary_df, classification_df, args.AMx, args.adf) - filtered_am.to_csv('mechanistic_indicators_out.csv', index=True) + filtered_am.to_csv(f'mechanistic_indicators_out_{args.clinvar_class_type}.csv', index=True) if __name__ == '__main__': main() diff --git a/dot_plot/examples_v2/ensemble_mode/dot_plot.pdf b/dot_plot/examples_v2/ensemble_mode/dot_plot.pdf index f76ce20..9a028ca 100644 Binary files a/dot_plot/examples_v2/ensemble_mode/dot_plot.pdf and b/dot_plot/examples_v2/ensemble_mode/dot_plot.pdf differ diff --git a/dot_plot/examples_v2/ensemble_mode/log.txt b/dot_plot/examples_v2/ensemble_mode/log_aggregated.txt similarity index 96% rename from dot_plot/examples_v2/ensemble_mode/log.txt rename to dot_plot/examples_v2/ensemble_mode/log_aggregated.txt index b41bc45..cb5c43d 100644 --- a/dot_plot/examples_v2/ensemble_mode/log.txt +++ b/dot_plot/examples_v2/ensemble_mode/log_aggregated.txt @@ -39,10 +39,10 @@ Summary of the effects. - 133 variants are potentially damaging in terms of removing the function related to a phosphorylation. [cabsflex] See csv file for details. - 591 variants are predicted with damaging long range effects on pocket site(s). [md] See csv file for details. - Variants with multiple effects: --- F113E, F113A, P190R, V197P, Y234D, F113S, V197D, Y234Q, Y220P, V218G, R249P, A138P, V197R, Y205N, P190F, V197N, Y234N, Y234T, P151R, Y220C, F270Q, I232S, Y236D, Y220D, F113T, F270G, Y205K, Y236H, Q165P, Y234C, Y234S, H193R, F270P, R158P, F113D, Y236G, C275R, F270D, Y236R, P151H, Y205S, Y236K, F270K, Y236C, Y205G, M160P, Y220G, Y205R, Y205T, Y234G, Y205D, V203D, Y205Q, F270N, I232G, Y236S, F270A, F113P, Y236P, H168P, Q136P, Y234R, Y220S, Y205E, Y103P, F270C, F113Q, F113R, V197G, F113N, Y236N, V197W, F270E, F270T, Y236T, Y234P, Y205A, V197Y, F270S, F113C, E198P, Y220A, Y220T, V216S, Y205P, I232D, V216P, Y234K, P151K, F113V, V197S, Y107G, R110P, I232A, F113K, H179P, R196P, V203K, V216G, I232R, Y205V, V173G, I232P, M237P, H193P, I195R, V197K, V203P, P190H, V218P, P151F, Y236E, F270R, Y234E, Y220N, C275K, V203G, Y205C, F113G, V197H, V216D, Y220E, Y236Q, Y234A, Y236A, Y205I -> [stability, long_range] --- Y220S, Y220C, Y220P, R249P, Y220G, Y220A, Y220E, Y220T, T155P, T155G, Y220D, Y220N -> [stability, ptm] --- Y220M, Y220S, R249N, R249Q, R249M, R249L, R249W, R249C, Y220I, R249G, Y220P, R249P, R249Y, R249A, R249S, R249F, R249H, Y220N, R249T, Y220C, Y220Q, R249I, Y220G, Y220E, Y220A, Y220T, Y220K, R249E, Y220D, Y220R, Y220H, R249V, R249D, Y220V, Y220L -> [long_range, ptm] --- Y220S, Y220C, Y220P, R249P, Y220G, Y220E, Y220A, Y220T, Y220D, Y220N -> [stability, long_range, ptm] +-- Y236Q, Y220T, V197N, V216S, Y236S, Y205K, Y205P, V197G, Y234D, Q136P, H193P, F270C, I232A, F113A, Y236D, V203G, Y234G, R249P, E198P, Y234P, F113D, V197W, V203K, Y205S, Y234C, F270K, F113V, Y205E, F270R, V216P, P190R, M237P, Y205I, F270G, P151F, Y236T, I232D, H193R, Y236G, Y220S, Y236C, Y205T, P190H, V203D, F113Q, Y220C, Y234E, Y236N, Y205D, Y236P, I232R, F113P, Y220G, Y236R, V197D, V173G, Y205Q, V197K, V216G, Q165P, Y205N, Y220E, I232P, Y205R, Y220P, Y220A, Y234R, F113T, Y234A, Y236K, V197H, F113S, M160P, Y103P, Y220N, Y236E, V216D, Y205A, F113C, C275R, F270E, V197R, F270T, V197Y, Y205V, Y234S, P151H, R158P, Y205C, A138P, Y236H, Y205G, F270P, P151K, Y236A, R196P, F270N, V218G, F113N, C275K, I195R, I232G, Y234N, Y234Q, F270A, F270S, I232S, V218P, H168P, Y234K, F113G, Y234T, R110P, V197P, F113R, Y107G, F113E, P190F, P151R, F270D, Y220D, H179P, F113K, F270Q, V203P, V197S -> [stability, long_range] +-- Y220P, T155G, Y220A, Y220G, Y220C, Y220N, Y220E, Y220S, Y220T, Y220D, R249P, T155P -> [stability, ptm] +-- Y220P, Y220A, Y220L, R249A, Y220I, R249T, Y220S, Y220K, R249Q, Y220T, Y220M, R249G, Y220C, Y220N, R249E, R249L, R249P, Y220H, Y220G, R249V, R249D, R249I, R249H, Y220D, R249M, R249C, Y220V, R249Y, R249N, Y220E, R249F, Y220Q, R249S, R249W, Y220R -> [long_range, ptm] +-- Y220P, Y220A, Y220G, Y220C, Y220N, Y220E, Y220S, Y220T, Y220D, R249P -> [stability, long_range, ptm] - We aggregated all the variants that have at least one of the MAVISp modules with a predicted damaging effect (except for PTM.function) and retained only the ones with a REVEL score higher than 0.5 for a total of 287 variants which could be of interest for further investigation: -- ['P98H', 'P98L', 'P98S', 'S99F', 'S99P', 'Y103C', 'Y103H', 'G105C', 'G105D', 'G105R', 'G105V', 'S106R', 'Y107C', 'Y107D', 'Y107H', 'Y107S', 'G108V', 'F109C', 'F109I', 'F109S', 'F109V', 'R110G', 'R110H', 'R110L', 'R110P', 'R110S', 'L111P', 'L111Q', 'L111R', 'F113C', 'F113L', 'F113S', 'C124F', 'C124R', 'C124Y', 'T125A', 'T125K', 'T125P', 'T125R', 'Y126D', 'Y126N', 'Y126S', 'S127F', 'S127P', 'S127Y', 'N131I', 'M133K', 'M133R', 'F134C', 'F134S', 'C135R', 'C135W', 'C135Y', 'Q136E', 'Q136H', 'Q136K', 'Q136L', 'Q136P', 'Q136R', 'A138D', 'A138P', 'A138T', 'A138V', 'C141R', 'C141W', 'C141Y', 'V143E', 'V143G', 'L145P', 'L145R', 'V147F', 'S149P', 'P151A', 'P151H', 'P151L', 'P151R', 'P151S', 'G154V', 'T155I', 'T155N', 'T155P', 'R156P', 'V157D', 'V157G', 'R158C', 'R158G', 'R158H', 'R158L', 'R158P', 'R158S', 'M160K', 'M160R', 'M160T', 'M160V', 'A161D', 'Y163D', 'Y163S', 'Q165E', 'Q165P', 'H168D', 'H168L', 'H168N', 'H168P', 'H168Q', 'H168R', 'H168Y', 'V173A', 'V173E', 'V173G', 'R175C', 'R175G', 'R175H', 'R175L', 'R175P', 'R175S', 'C176F', 'H179D', 'H179L', 'H179N', 'H179P', 'H179Q', 'H179R', 'H179Y', 'R181P', 'S183L', 'S185R', 'D186E', 'D186G', 'D186H', 'D186V', 'G187V', 'A189G', 'P190A', 'P190H', 'P190L', 'P190R', 'P190S', 'Q192H', 'Q192K', 'Q192L', 'Q192R', 'H193D', 'H193L', 'H193N', 'H193P', 'H193Q', 'H193R', 'H193Y', 'L194F', 'L194H', 'L194R', 'I195F', 'I195S', 'R196G', 'R196L', 'R196P', 'R196Q', 'V197A', 'V197E', 'V197G', 'V197L', 'V197M', 'E198D', 'E198G', 'E198K', 'E198Q', 'G199V', 'N200I', 'N200S', 'N200Y', 'V203A', 'V203E', 'V203L', 'V203M', 'Y205C', 'Y205D', 'Y205H', 'Y205N', 'Y205S', 'T211A', 'T211I', 'T211N', 'T211P', 'R213P', 'S215C', 'S215G', 'S215I', 'S215N', 'S215T', 'V216A', 'V216E', 'V216G', 'V217G', 'V218A', 'V218G', 'Y220C', 'Y220D', 'Y220H', 'Y220N', 'Y220S', 'P222L', 'P222Q', 'G226V', 'S227P', 'I232F', 'I232N', 'I232S', 'I232T', 'Y234C', 'Y234D', 'Y234H', 'Y234N', 'Y234S', 'Y236C', 'Y236D', 'Y236H', 'Y236N', 'Y236S', 'M237K', 'M237R', 'M237T', 'M237V', 'C238F', 'C238R', 'C238W', 'C238Y', 'G244C', 'G244V', 'G245R', 'M246K', 'M246R', 'R248P', 'R249G', 'R249K', 'R249M', 'R249S', 'R249T', 'R249W', 'I251N', 'I251S', 'L252P', 'T253P', 'I254F', 'I254N', 'I254S', 'I255N', 'I255S', 'I255T', 'T256P', 'L257P', 'L257Q', 'L257R', 'D259Y', 'G262V', 'L265P', 'G266E', 'G266R', 'G266V', 'R267P', 'F270C', 'F270I', 'F270L', 'F270S', 'F270V', 'V272A', 'V272E', 'V272G', 'V274D', 'V274F', 'V274G', 'C275F', 'C275G', 'C275R', 'C275S', 'C275W', 'C275Y', 'P278H', 'P278L', 'P278R', 'P278S', 'G279E', 'G279R', 'G279V', 'G279W', 'R282P', 'T284I', 'T284P'] - We aggregated all the variants that have at least one of the MAVISp modules with a predicted damaging effect (except for PTM.function) and retained only the ones with a Demask delta fitness >= 0.25 or <= -0.25 for a total of 906 variants which could be of interest for further investigation: diff --git a/dot_plot/examples_v2/ensemble_mode/mechanistic_indicators_out.csv b/dot_plot/examples_v2/ensemble_mode/mechanistic_indicators_out_aggregated.csv similarity index 100% rename from dot_plot/examples_v2/ensemble_mode/mechanistic_indicators_out.csv rename to dot_plot/examples_v2/ensemble_mode/mechanistic_indicators_out_aggregated.csv diff --git a/dot_plot/examples_v2/ensemble_mode_foldetta/dot_plot.pdf b/dot_plot/examples_v2/ensemble_mode_foldetta/dot_plot.pdf index 83355c5..f9ae830 100644 Binary files a/dot_plot/examples_v2/ensemble_mode_foldetta/dot_plot.pdf and b/dot_plot/examples_v2/ensemble_mode_foldetta/dot_plot.pdf differ diff --git a/dot_plot/examples_v2/ensemble_mode_foldetta/log.txt b/dot_plot/examples_v2/ensemble_mode_foldetta/log_aggregated.txt similarity index 95% rename from dot_plot/examples_v2/ensemble_mode_foldetta/log.txt rename to dot_plot/examples_v2/ensemble_mode_foldetta/log_aggregated.txt index 66acde5..130b8fb 100644 --- a/dot_plot/examples_v2/ensemble_mode_foldetta/log.txt +++ b/dot_plot/examples_v2/ensemble_mode_foldetta/log_aggregated.txt @@ -55,10 +55,10 @@ Summary of the effects. - 133 variants are potentially damaging in terms of removing the function related to a phosphorylation. [cabsflex] See csv file for details. - 591 variants are predicted with damaging long range effects on pocket site(s). [md] See csv file for details. - Variants with multiple effects: --- Y236R, Y205E, Y107D, V216D, R196Y, R158P, I232F, P190R, F113N, C275H, P222K, Y234C, A138P, F113Q, V203F, Y205Q, R175H, V173G, Y103P, N200W, R158G, V173S, Y236C, F270V, Y236A, V218D, I232W, P222H, M160P, Y220G, H193P, Y236D, Y236P, I232N, C275R, P222R, Y205S, V216G, Y205A, C275F, V197N, Y205K, H179R, F113P, P222Y, V197Y, R249P, F270N, Y220S, Y236S, E198P, V197W, P151S, H193R, I232S, V197D, I232Y, H179F, F270C, V197K, Y205G, V197G, Y205H, V203G, Y205P, F113G, H179Y, F113I, V216N, Y234D, M237P, I232A, Y220A, F270H, F113S, V197F, I232H, Y236K, V203W, C275Y, I195F, H179P, F113W, N200Y, R196P, Y205C, Y236G, Y234S, V203R, V203Y, Y107E, H193W, Y205T, Y234G, Y236Q, R158H, Y236E, I195R, C275W, R110P, I195Y, V203M, Y205N, P222W, Y234A, V197P, Y205D, Y234P, F113V, P190H, P151W, F270D, P151Y, V218P, Y107T, F113T, Y234N, Y107S, V203P, Y234T, F270P, I232E, F270Q, V197H, V203D, Y220P, Q136P, Y205R, Y220C, Y234R, H193Y, I232D, P151F, F113D, V173D, Y205I, Y107G, V197A, V216S, F270E, Y220T, F270S, P151G, Y107P, Y234K, F270R, I195W, V197S, P98R, P151K, P190W, P222F, V218G, F270G, Q165P, R158Y, Y236T, P151R, V197R, V203K, Y236N, Y234Q, I232P, F113E, H179W, Y234E, V216P, F113A, Y220E, Y220N, V203H, C275K, F113K, I232G, F113C, F270A, R196H, F270T, H168P, F113R, I232R, Y236H, P151H, Y220D, Y220K, P190F, F270K, Y205V -> [stability, long_range] --- S149P, Y220G, Y220P, T211P, T155G, T284P, R249P, Y220E, Y220D, Y220K, Y220N, Y220A, Y220S, Y220C, T155P, Y220T -> [stability, ptm] --- Y220H, R249W, R249Y, R249P, R249L, Y220S, Y220T, Y220M, Y220K, R249H, Y220R, R249S, R249E, R249M, R249D, Y220V, R249Q, Y220I, Y220E, Y220Q, R249N, R249F, Y220A, Y220N, R249T, Y220G, R249C, R249I, Y220L, R249A, R249V, R249G, Y220D, Y220P, Y220C -> [long_range, ptm] --- Y220G, Y220P, R249P, Y220E, Y220D, Y220K, Y220N, Y220A, Y220S, Y220C, Y220T -> [stability, long_range, ptm] +-- R158H, V218D, I232D, Y234C, F270K, F270N, I195W, H179F, V203K, Y205G, Y220T, I232W, F270A, F113P, V216D, Y107T, R158P, R196Y, Y236P, P151F, I232H, V218P, P151W, Y234R, Y205H, F270V, V203M, H179P, V203F, C275W, E198P, Y205D, F113N, Y107P, I232G, H168P, Y234G, R196P, C275R, V216N, Y107G, V173G, V197H, Y205C, P151K, F270T, Y234S, I195Y, Y205I, C275K, V203D, F270D, F113K, F113R, Y236H, N200Y, Y205V, Y107S, P222W, H193W, Y234A, R175H, H179R, M237P, P190H, V197A, Y236C, F113A, Y220S, F113G, Y234Q, I232R, R110P, F113E, V197Y, F113I, Y205E, F113Q, Q165P, Y236Q, H179Y, V197G, Y107E, R196H, F270C, F270H, P222F, I232A, V203P, F270E, F270S, V197F, V197D, Y234K, R249P, V203Y, V216S, F113W, H193Y, R158G, I232N, Y220C, P222H, P151Y, V173D, P151R, Y205A, I232P, Y220K, Y205R, Y236E, P151H, Y205S, Y236S, V197S, Y205Q, F270R, V203W, N200W, H193P, Y205P, P222Y, F270Q, Y103P, I232E, V173S, Y236D, C275Y, C275H, F113V, V197R, Y236A, Y234T, Y205T, Y236R, P190R, V197W, P222R, Y236K, Y220E, Y220N, Y234N, P151G, P222K, Y236G, Q136P, Y234E, H193R, V203R, Y220A, Y234D, P98R, F113T, V203H, M160P, V197N, I232Y, Y205N, Y220D, V203G, F113D, V218G, P190F, A138P, Y234P, Y236N, P190W, P151S, I232F, Y205K, H179W, Y107D, V197P, Y220P, C275F, V216G, V197K, I195F, Y220G, Y236T, F113C, F270G, V216P, I232S, F270P, I195R, F113S, R158Y -> [stability, long_range] +-- Y220K, Y220P, Y220A, R249P, S149P, Y220E, T155P, Y220N, Y220S, T211P, Y220G, Y220C, Y220D, T284P, Y220T, T155G -> [stability, ptm] +-- Y220I, R249T, R249P, Y220M, R249V, Y220E, Y220N, R249G, Y220Q, Y220C, R249L, R249S, R249F, Y220V, Y220T, Y220K, R249Q, Y220A, R249C, Y220D, Y220L, R249I, R249D, R249H, Y220S, R249M, R249A, R249Y, R249W, Y220H, Y220P, Y220G, R249N, R249E, Y220R -> [long_range, ptm] +-- Y220K, Y220P, Y220A, R249P, Y220E, Y220N, Y220S, Y220G, Y220C, Y220D, Y220T -> [stability, long_range, ptm] - We aggregated all the variants that have at least one of the MAVISp modules with a predicted damaging effect (except for PTM.function) and retained only the ones with a REVEL score higher than 0.5 for a total of 350 variants which could be of interest for further investigation: -- ['S94P', 'S96P', 'P98H', 'P98L', 'P98S', 'S99F', 'S99P', 'Y103C', 'Y103H', 'G105C', 'G105D', 'G105R', 'G105S', 'G105V', 'S106R', 'Y107C', 'Y107D', 'Y107H', 'Y107S', 'G108C', 'G108D', 'G108S', 'G108V', 'F109C', 'F109I', 'F109S', 'F109V', 'R110G', 'R110H', 'R110L', 'R110P', 'R110S', 'L111P', 'L111Q', 'L111R', 'F113C', 'F113L', 'F113S', 'C124F', 'C124R', 'C124Y', 'T125A', 'T125K', 'T125P', 'T125R', 'Y126C', 'Y126D', 'Y126N', 'Y126S', 'S127F', 'S127P', 'S127Y', 'L130P', 'N131I', 'M133K', 'M133R', 'M133T', 'F134C', 'F134S', 'C135F', 'C135R', 'C135W', 'C135Y', 'Q136E', 'Q136H', 'Q136K', 'Q136L', 'Q136P', 'Q136R', 'A138D', 'A138P', 'A138T', 'A138V', 'C141F', 'C141G', 'C141R', 'C141W', 'C141Y', 'P142H', 'V143A', 'V143E', 'V143G', 'Q144P', 'L145P', 'L145Q', 'L145R', 'V147D', 'V147F', 'V147G', 'S149P', 'P151A', 'P151H', 'P151L', 'P151R', 'P151S', 'G154V', 'T155I', 'T155N', 'T155P', 'R156P', 'V157A', 'V157D', 'V157F', 'V157G', 'R158C', 'R158G', 'R158H', 'R158L', 'R158P', 'R158S', 'A159D', 'A159P', 'M160K', 'M160R', 'M160T', 'M160V', 'A161D', 'I162F', 'Y163C', 'Y163D', 'Y163N', 'Y163S', 'Q165E', 'Q165P', 'H168D', 'H168L', 'H168N', 'H168P', 'H168Q', 'H168R', 'H168Y', 'V172F', 'V173A', 'V173E', 'V173G', 'V173M', 'R175C', 'R175G', 'R175H', 'R175L', 'R175P', 'R175S', 'C176F', 'C176R', 'C176W', 'C176Y', 'H178P', 'H179D', 'H179L', 'H179N', 'H179P', 'H179Q', 'H179R', 'H179Y', 'R181P', 'S183L', 'S185R', 'D186E', 'D186G', 'D186H', 'D186V', 'G187V', 'A189G', 'A189P', 'P190A', 'P190H', 'P190L', 'P190R', 'P190S', 'P191H', 'Q192H', 'Q192K', 'Q192L', 'Q192R', 'H193D', 'H193L', 'H193N', 'H193P', 'H193Q', 'H193R', 'H193Y', 'L194F', 'L194H', 'L194P', 'L194R', 'I195F', 'I195N', 'I195S', 'R196G', 'R196L', 'R196P', 'R196Q', 'V197A', 'V197E', 'V197G', 'V197L', 'V197M', 'E198D', 'E198G', 'E198K', 'E198Q', 'G199V', 'N200I', 'N200S', 'N200Y', 'V203A', 'V203E', 'V203L', 'V203M', 'Y205C', 'Y205D', 'Y205H', 'Y205N', 'Y205S', 'D208G', 'D208Y', 'T211A', 'T211I', 'T211N', 'T211P', 'R213P', 'S215C', 'S215G', 'S215I', 'S215N', 'S215T', 'V216A', 'V216E', 'V216G', 'V216M', 'V217G', 'V218A', 'V218E', 'V218G', 'Y220C', 'Y220D', 'Y220H', 'Y220N', 'Y220S', 'P222L', 'P222Q', 'P223H', 'P223R', 'G226V', 'S227P', 'C229W', 'T230P', 'I232F', 'I232N', 'I232S', 'I232T', 'H233P', 'Y234C', 'Y234D', 'Y234H', 'Y234N', 'Y234S', 'Y236C', 'Y236D', 'Y236H', 'Y236N', 'Y236S', 'M237K', 'M237R', 'M237T', 'M237V', 'C238F', 'C238R', 'C238W', 'C238Y', 'S241P', 'C242F', 'C242R', 'C242W', 'C242Y', 'G244C', 'G244V', 'G245C', 'G245D', 'G245R', 'G245S', 'G245V', 'M246K', 'M246R', 'N247I', 'R248P', 'R249G', 'R249K', 'R249M', 'R249S', 'R249T', 'R249W', 'I251F', 'I251N', 'I251S', 'I251T', 'L252H', 'L252P', 'T253P', 'I254F', 'I254N', 'I254S', 'I255N', 'I255S', 'I255T', 'T256P', 'L257P', 'L257Q', 'L257R', 'D259Y', 'G262V', 'L265P', 'G266E', 'G266R', 'G266V', 'R267P', 'R267W', 'F270C', 'F270I', 'F270L', 'F270S', 'F270V', 'V272A', 'V272E', 'V272G', 'R273P', 'V274D', 'V274F', 'V274G', 'C275F', 'C275G', 'C275R', 'C275S', 'C275W', 'C275Y', 'P278H', 'P278L', 'P278R', 'P278S', 'P278T', 'G279E', 'G279R', 'G279V', 'G279W', 'D281G', 'R282P', 'R283P', 'T284I', 'T284P', 'L289P'] - We aggregated all the variants that have at least one of the MAVISp modules with a predicted damaging effect (except for PTM.function) and retained only the ones with a Demask delta fitness >= 0.25 or <= -0.25 for a total of 1159 variants which could be of interest for further investigation: diff --git a/dot_plot/examples_v2/ensemble_mode_foldetta/mechanistic_indicators_out.csv b/dot_plot/examples_v2/ensemble_mode_foldetta/mechanistic_indicators_out_aggregated.csv similarity index 100% rename from dot_plot/examples_v2/ensemble_mode_foldetta/mechanistic_indicators_out.csv rename to dot_plot/examples_v2/ensemble_mode_foldetta/mechanistic_indicators_out_aggregated.csv diff --git a/dot_plot/examples_v2/ensemble_mode_foldetta_thermompnn/dot_plot.pdf b/dot_plot/examples_v2/ensemble_mode_foldetta_thermompnn/dot_plot.pdf index 355863d..fe10a3f 100644 Binary files a/dot_plot/examples_v2/ensemble_mode_foldetta_thermompnn/dot_plot.pdf and b/dot_plot/examples_v2/ensemble_mode_foldetta_thermompnn/dot_plot.pdf differ diff --git a/dot_plot/examples_v2/ensemble_mode_foldetta_thermompnn/log.txt b/dot_plot/examples_v2/ensemble_mode_foldetta_thermompnn/log_germline.txt similarity index 95% rename from dot_plot/examples_v2/ensemble_mode_foldetta_thermompnn/log.txt rename to dot_plot/examples_v2/ensemble_mode_foldetta_thermompnn/log_germline.txt index 79d40fd..0821048 100644 --- a/dot_plot/examples_v2/ensemble_mode_foldetta_thermompnn/log.txt +++ b/dot_plot/examples_v2/ensemble_mode_foldetta_thermompnn/log_germline.txt @@ -67,10 +67,10 @@ Summary of the effects. - 133 variants are potentially damaging in terms of removing the function related to a phosphorylation. [cabsflex] See csv file for details. - 591 variants are predicted with damaging long range effects on pocket site(s). [md] See csv file for details. - Variants with multiple effects: --- Y234S, Y205G, Y234K, F113V, F270Q, V216G, F113P, H168P, V197W, V218D, H179Y, Y234E, F270R, P98R, I232R, R158G, Y220D, P222Y, P151W, C275R, V203F, Y234D, F113S, Y205K, Y236G, R158H, V218N, V197G, F113Q, Y205N, I195W, V197Y, Y220Q, P222F, V197H, F270P, Y107R, N200W, Y103G, Y205Q, I232A, P151R, V197N, Y107K, H179R, Y220C, H193R, Q136P, V203G, Y220E, F270K, A138P, E198P, F270C, F270D, F270G, C275H, Y220A, F270S, V203D, Y107Q, Y107V, V197K, V218P, F113C, V203R, V203W, R158D, R110D, Y220N, F113A, F113N, R196H, Y234Q, P190W, Y220S, Y107E, F113T, Y107A, M160G, I232W, I232N, F113E, P190R, Y107P, R196P, Y220T, P151S, Y236P, F270H, V203P, F270N, C275K, R158Y, Y107T, P151H, I232H, Y236S, Y234R, Y234N, Y205L, P151F, Y220P, V203Y, Q165P, P222K, I232D, V216D, I232F, Y236R, P190F, P151Y, F113I, F113K, Y205R, Y220R, V197F, P151G, I232Q, Y236C, Y236E, M237P, F113W, V216S, V203H, I232T, Y205D, Y220K, V218S, Y205C, Y205H, Y236D, V197P, V216N, Y220G, P222W, V173D, H193Y, N200Y, Y205P, I232S, I232Y, V203K, R196Y, I232E, I232P, Y205I, I232G, Y107D, P190H, R110P, Y236H, F270V, F113R, F270T, V197D, V197A, F270E, Y236A, Y205V, Y205E, V173G, I195R, M160P, Y236N, Y236K, Y236T, V218G, C275Y, Y205M, Y205A, R158P, P151K, Y236Q, V197S, C275W, V203M, H179P, V203N, Y234A, Y234P, Y107S, F270A, H193W, V216P, H179W, M237K, P222H, Y103P, Y107G, Y234C, Y205S, Y234T, F113D, F113G, P222R, Y234G, Y205T, R249P, H179F, R175H, I195Y, C275F, I195F, H193P, V173S, V197R, Q136D -> [stability, long_range] --- T211P, Y220N, Y220K, T155P, Y220S, Y220G, Y220D, Y220T, T155N, T155G, S149P, Y220P, T284P, Y220Q, R249P, Y220C, Y220E, Y220R, Y220A -> [stability, ptm] --- R249F, R249G, R249E, Y220N, Y220K, R249Q, Y220S, Y220I, R249N, Y220G, R249L, Y220D, Y220T, Y220H, R249W, R249C, Y220L, R249S, Y220M, R249H, Y220P, Y220Q, R249M, R249P, R249T, R249I, R249Y, Y220C, R249V, Y220E, R249D, Y220R, Y220V, Y220A, R249A -> [long_range, ptm] --- Y220G, Y220C, R249P, Y220D, Y220R, Y220E, Y220N, Y220T, Y220P, Y220K, Y220Q, Y220S, Y220A -> [stability, long_range, ptm] +-- P151W, F270V, Y220R, F113A, R158G, P222Y, F113S, Y205N, Y236T, H168P, F113W, Y103P, V197K, P151F, V197G, H179W, Y234Q, V203Y, Y205Q, I232E, Y205K, I232G, F113E, Y107R, P222H, V216G, F270A, P190F, H179Y, F270E, R196P, Y107V, V203D, C275R, Y205M, Y236K, Y205P, H179R, I232R, R110P, R110D, Y220C, F270K, I232F, V197D, F270T, Y234C, Y234G, V216S, Q136P, Y220T, I232Q, N200W, Y236P, M237P, M160P, H193Y, H179F, Y236C, I232N, Y236D, Y236R, Y205D, F270Q, V197N, V197F, V216D, H193W, Y205H, Y107P, I195R, V173S, Y220A, Y220K, F270D, H193P, Y236E, Y205S, Y205L, F113I, F113N, Y205G, C275F, F113G, Y107K, Y234R, Y220P, R175H, F113T, Y205E, C275Y, Y236G, I232T, F270S, I232P, V218N, Y236H, C275W, P190W, P151K, F270C, V173G, V197P, E198P, Y220Q, Y234A, Y107E, V173D, P151S, R158P, V197W, P222F, P222W, F113R, F113D, Y220E, I232D, Y234T, Y236S, F270H, P190R, P98R, Y205R, F270G, Y236A, P190H, Y236Q, I232Y, V203M, V197A, V197S, Y103G, I232S, V203F, Y234D, Y205A, Y234S, V197R, F270P, Y107Q, P151H, Y236N, R158H, Y220D, V203K, F113C, R196H, N200Y, V203N, P222K, V218D, Y205T, A138P, I195W, P222R, P151Y, Y234P, Y234E, V203P, R158Y, Y107G, I195Y, Y234N, F113Q, R196Y, Y107A, I232A, V218S, Y205V, Q136D, M160G, V197Y, Y205C, V197H, Y220G, F270R, P151R, Q165P, V203G, V203W, Y220N, R249P, I232W, M237K, V203R, V216P, C275H, H179P, R158D, Y205I, C275K, F113V, H193R, P151G, F270N, F113K, Y107D, V216N, Y107T, V218G, Y220S, I195F, V203H, V218P, Y234K, Y107S, I232H, F113P -> [stability, long_range] +-- Y220R, Y220Q, Y220E, Y220G, R249P, Y220N, S149P, Y220A, Y220K, T155N, T284P, T211P, Y220C, T155G, Y220P, Y220D, T155P, Y220S, Y220T -> [stability, ptm] +-- R249F, Y220R, Y220L, R249Q, Y220H, R249G, Y220Q, R249L, R249A, R249D, R249V, R249W, R249N, R249I, Y220E, Y220M, Y220I, Y220G, Y220V, R249S, R249P, Y220N, R249Y, Y220A, Y220K, R249E, R249C, R249T, Y220C, Y220P, R249H, Y220D, Y220S, R249M, Y220T -> [long_range, ptm] +-- Y220N, Y220C, Y220R, Y220A, Y220K, Y220P, Y220E, Y220D, Y220Q, Y220G, Y220S, Y220T, R249P -> [stability, long_range, ptm] - We aggregated all the variants that have at least one of the MAVISp modules with a predicted damaging effect (except for PTM.function) and retained only the ones with a REVEL score higher than 0.5 for a total of 376 variants which could be of interest for further investigation: -- ['S94P', 'S96P', 'P98A', 'P98H', 'P98L', 'P98R', 'P98S', 'S99C', 'S99F', 'S99P', 'Y103C', 'Y103H', 'Y103N', 'Y103S', 'G105C', 'G105D', 'G105R', 'G105S', 'G105V', 'S106R', 'Y107C', 'Y107D', 'Y107H', 'Y107N', 'Y107S', 'G108C', 'G108D', 'G108R', 'G108S', 'G108V', 'F109C', 'F109I', 'F109S', 'F109V', 'R110G', 'R110H', 'R110L', 'R110P', 'R110S', 'L111P', 'L111Q', 'L111R', 'F113C', 'F113L', 'F113S', 'S121P', 'C124F', 'C124R', 'C124W', 'C124Y', 'T125A', 'T125K', 'T125P', 'T125R', 'T125S', 'Y126C', 'Y126D', 'Y126H', 'Y126N', 'Y126S', 'S127F', 'S127P', 'S127Y', 'L130P', 'N131I', 'M133K', 'M133R', 'M133T', 'F134C', 'F134S', 'C135F', 'C135R', 'C135W', 'C135Y', 'Q136E', 'Q136H', 'Q136K', 'Q136L', 'Q136P', 'Q136R', 'A138D', 'A138P', 'A138T', 'A138V', 'C141F', 'C141G', 'C141R', 'C141W', 'C141Y', 'P142H', 'V143A', 'V143E', 'V143G', 'Q144P', 'L145P', 'L145Q', 'L145R', 'V147D', 'V147F', 'V147G', 'S149P', 'P151A', 'P151H', 'P151L', 'P151R', 'P151S', 'G154V', 'T155I', 'T155N', 'T155P', 'R156P', 'V157A', 'V157D', 'V157F', 'V157G', 'R158C', 'R158G', 'R158H', 'R158L', 'R158P', 'R158S', 'A159D', 'A159P', 'M160K', 'M160R', 'M160T', 'M160V', 'A161D', 'I162F', 'I162N', 'Y163C', 'Y163D', 'Y163N', 'Y163S', 'Q165E', 'Q165P', 'Q167P', 'H168D', 'H168L', 'H168N', 'H168P', 'H168Q', 'H168R', 'H168Y', 'V172F', 'V173A', 'V173E', 'V173G', 'V173M', 'R175C', 'R175G', 'R175H', 'R175L', 'R175P', 'R175S', 'C176F', 'C176R', 'C176W', 'C176Y', 'H178P', 'H179D', 'H179L', 'H179N', 'H179P', 'H179Q', 'H179R', 'H179Y', 'R181P', 'S183L', 'S185R', 'D186E', 'D186G', 'D186H', 'D186V', 'G187V', 'A189G', 'A189P', 'P190A', 'P190H', 'P190L', 'P190R', 'P190S', 'P191H', 'Q192E', 'Q192H', 'Q192K', 'Q192L', 'Q192P', 'Q192R', 'H193D', 'H193L', 'H193N', 'H193P', 'H193Q', 'H193R', 'H193Y', 'L194F', 'L194H', 'L194P', 'L194R', 'I195F', 'I195N', 'I195S', 'I195T', 'R196G', 'R196L', 'R196P', 'R196Q', 'V197A', 'V197E', 'V197G', 'V197L', 'V197M', 'E198D', 'E198G', 'E198K', 'E198Q', 'G199V', 'N200H', 'N200I', 'N200S', 'N200Y', 'V203A', 'V203E', 'V203L', 'V203M', 'Y205C', 'Y205D', 'Y205H', 'Y205N', 'Y205S', 'D208G', 'D208Y', 'T211A', 'T211I', 'T211N', 'T211P', 'R213P', 'S215C', 'S215G', 'S215I', 'S215N', 'S215T', 'V216A', 'V216E', 'V216G', 'V216M', 'V217G', 'V218A', 'V218E', 'V218G', 'Y220C', 'Y220D', 'Y220H', 'Y220N', 'Y220S', 'P222L', 'P222Q', 'P223H', 'P223R', 'G226V', 'S227P', 'C229W', 'T230P', 'I232F', 'I232N', 'I232S', 'I232T', 'H233P', 'Y234C', 'Y234D', 'Y234H', 'Y234N', 'Y234S', 'Y236C', 'Y236D', 'Y236H', 'Y236N', 'Y236S', 'M237K', 'M237R', 'M237T', 'M237V', 'C238F', 'C238R', 'C238W', 'C238Y', 'S241P', 'C242F', 'C242R', 'C242W', 'C242Y', 'G244C', 'G244V', 'G245C', 'G245D', 'G245R', 'G245S', 'G245V', 'M246K', 'M246R', 'N247I', 'R248P', 'R249G', 'R249K', 'R249M', 'R249S', 'R249T', 'R249W', 'I251F', 'I251N', 'I251S', 'I251T', 'L252H', 'L252P', 'T253P', 'I254F', 'I254N', 'I254S', 'I255N', 'I255S', 'I255T', 'T256P', 'L257P', 'L257Q', 'L257R', 'E258D', 'D259A', 'D259E', 'D259H', 'D259V', 'D259Y', 'G262V', 'L265P', 'L265Q', 'L265R', 'G266E', 'G266R', 'G266V', 'R267G', 'R267P', 'R267W', 'F270C', 'F270I', 'F270L', 'F270S', 'F270V', 'V272A', 'V272E', 'V272G', 'R273P', 'V274D', 'V274F', 'V274G', 'C275F', 'C275G', 'C275R', 'C275S', 'C275W', 'C275Y', 'P278H', 'P278L', 'P278R', 'P278S', 'P278T', 'G279E', 'G279R', 'G279V', 'G279W', 'D281G', 'R282P', 'R283P', 'T284I', 'T284P', 'T284R', 'L289P'] - We aggregated all the variants that have at least one of the MAVISp modules with a predicted damaging effect (except for PTM.function) and retained only the ones with a Demask delta fitness >= 0.25 or <= -0.25 for a total of 1219 variants which could be of interest for further investigation: diff --git a/dot_plot/examples_v2/ensemble_mode_foldetta_thermompnn/mechanistic_indicators_out.csv b/dot_plot/examples_v2/ensemble_mode_foldetta_thermompnn/mechanistic_indicators_out_germline.csv similarity index 100% rename from dot_plot/examples_v2/ensemble_mode_foldetta_thermompnn/mechanistic_indicators_out.csv rename to dot_plot/examples_v2/ensemble_mode_foldetta_thermompnn/mechanistic_indicators_out_germline.csv diff --git a/dot_plot/examples_v2/new_entry_examples/clinical_impact/dot_plot.pdf b/dot_plot/examples_v2/new_entry_examples/clinical_impact/dot_plot.pdf index d2f1c5e..f771adf 100644 Binary files a/dot_plot/examples_v2/new_entry_examples/clinical_impact/dot_plot.pdf and b/dot_plot/examples_v2/new_entry_examples/clinical_impact/dot_plot.pdf differ diff --git a/dot_plot/examples_v2/new_entry_examples/clinical_impact/log.txt b/dot_plot/examples_v2/new_entry_examples/clinical_impact/log_clinical_impact.txt similarity index 86% rename from dot_plot/examples_v2/new_entry_examples/clinical_impact/log.txt rename to dot_plot/examples_v2/new_entry_examples/clinical_impact/log_clinical_impact.txt index 8273cd3..e265e83 100644 --- a/dot_plot/examples_v2/new_entry_examples/clinical_impact/log.txt +++ b/dot_plot/examples_v2/new_entry_examples/clinical_impact/log_clinical_impact.txt @@ -46,28 +46,28 @@ Summary of the effects. - 323 variants are damaging for Functional site ['cofactor'] module See csv file for details. - No classification for Long Range-PSN available yet. - Variants with multiple effects: --- G244V, R248P, R273P, C242W, G279W, D281P, G279H -> [stability, local_interactions] --- Y220S, Y107T, S127P, G226P, V203W, Y126N, L111W, K132F, V272A, C135E, F113G, Y205A, R282P, Y234P, H179G, Y126V, Y234V, G187I, D208G, Y163K, Y236A, I255P, H193R, S149P, Y234R, V173S, V203G, V272S, I251C, S94W, C238F, V216N, G262I, Y205P, S94L, K132Y, Y107A, S94E, F270H, Y205D, S94D, I251H, F270K, Y107C, Y163A, Y236Q, E287P, F134T, G245S, F270C, M160G, V217Y, L194D, C238K, P151K, M169P, C238N, C176K, I255A, N200G, C176Y, Y107N, A159E, G262V, G226A, C176T, P151I, V197K, N239E, I251D, W146D, L111Y, Y220G, H193W, F270Q, C238H, Y236C, C238M, I255D, P142G, P151E, Y107K, V203F, V197A, M160P, V173N, I251G, L188P, F134A, V217H, M246R, P151F, V203Y, I251P, L194S, C238W, Y220A, L289P, G245C, V203K, I255S, C238R, V147W, C176G, P151H, F113E, Y205Q, I255H, C135R, Y236H, C238T, F113P, K132W, I232S, Y234G, I195Y, R282G, L111N, C238V, R158D, Y205R, V218P, V218D, Y236N, V216G, C238Y, V272D, Y107D, Y107G, G245V, H193P, S185P, V122P, S94N, L130D, S127R, R158N, F113V, Y205N, Y236G, Y107E, V217K, M246W, Y103P, V216S, F134Q, Q136P, R175G, C135K, H179P, F270N, R158F, C176R, I195W, Y236V, P151G, H179F, F134N, G245F, Y126K, R158Y, L130E, H179L, F134G, L194C, N235F, R158E, F134E, R249P, L194N, Y205I, G199I, F270A, L194P, L111A, Y234E, M246K, H178E, Y205K, R213G, S127Y, Y205W, Y107Q, L111D, H179Y, L194A, A159Y, V272N, Y107S, H179W, I251E, V143N, F134K, H179A, A159F, S94Y, A159R, E285P, F113C, Y220E, Y234K, I255C, F113Q, F134S, H179V, Y163R, Y126L, C176N, V147K, G245R, A159W, V203N, C176L, G112P, R158G, F270V, P151W, Y234T, V203R, M237Y, V197G, M160D, V197Y, S94F, L194Q, I251A, R175D, V218N, Y163G, G226V, R267P, I232E, G245N, A138P, F270R, R282D, Y126P, G244I, Y107R, C135Y, Y220T, F270T, V143P, Y205C, G187V, M246F, C135F, F134R, Y205G, L111E, S127K, R213P, Y205E, L137G, Y126C, F270G, V173G, Y234N, V216P, G154S, I251S, I255G, P142H, F113S, L194E, A159P, M246N, M246H, G226T, L111Q, A159Q, E171P, G245L, R110P, G244T, C238Q, L111G, Y234A, R196D, M246S, S94Q, I255E, R196P, Y220P, Y163E, V217W, S127H, C135H, R175H, Y126E, V217F, Y163C, Y234S, V143S, Y236D, G245M, I232P, R267D, G245T, F113A, E180P, I232G, S127Q, V143G, F134P, G154T, Y220N, R248I, E286G, N131V, V216D, A159K, G245K, Y236I, Y234Q, V197H, K139P, N131I, V197D, M133R, H179S, V197W, V197F, S127I, Y126Q, Y236S, G245H, Y163T, Y126G, G154P, G199V, H179N, A159D, L194T, V272P, Y126T, Y205V, Y126D, C176W, F113K, G226C, I255N, K164P, Y220D, Y220K, G245A, Y163P, Y163N, R273P, P278G, V197S, G262P, C176A, C176Q, I232A, F113R, V217R, W146P, S96P, H179I, Y234D, F134V, V197P, C238A, Y236R, R181P, G245E, M246Y, Y236P, F134H, C238L, R158H, H168P, H179R, S94K, M246D, Y205T, V197R, R282H, C176H, M160W, H179Q, A159H, R156P, G244V, H179K, N235Y, Y220Q, P151R, G245Q, C176M, L111T, G244P, R248P, I195R, I232D, R158P, G245I, G154V, I255Q, L111C, F134C, V203H, V197N, I251Q, F113N, R175E, Y236E, Y205S, R213S, C238I, H179M, L111F, R213D, H179T, V272G, Y107P, Y163Q, Y103G, V173D, V203D, P190G, L111P, M237P, F270D, L130P, R249G, V173P, C135W, V143A, G154I, G226I, C176I, L206P, V203P, Y163D, Y163S, V218S, F134D, V218G, F113T, M246G, Y236T, E286P, P151Q, Y220V, S94M, W146G, M160Y, G187P, I255T, E204P, R158W, F113D, P151Y, L111S, S127W, F270P, C176S, F113I, S94H, L194G, L130G, G245Y, S94R, Y126S, I251N, R248V, C238G, E198P, L111R, P278S, V143D, F270E, G245D, C176V, I195F, Y234C, Y236K, C176F, L111H, Y220C, G245W, Y126R, F270S, Y126A, G199P, G245P -> [stability, long_range] --- C141H, C238Q, C238Y, C238F, C141Y, C238W, G245C, C242P, C141Q, C141W, C141E, C141F, C238R, C124P, C238G, C242F, C238I, C238H, C242Y, C238M, C238T, C242D, C141K, C141P, C238K, C238A, C238N, C242H, C238V, C238L, C242W, C141R, C238P, C141G -> [stability, disulfide] --- C238Y, C182P, C176H, H179Q, G245V, H179K, C242Y, H179G, G245Q, C176M, V274F, M246W, G245I, L194E, M246N, M246H, R175G, H179P, G245P, V274D, C242W, V274R, L194R, C176R, G245L, H179F, C176P, R175E, C238Q, C238F, V274Q, M246S, C242P, V274P, C238I, G245F, H179M, H179L, L194C, H179T, L194N, G245S, L194Y, R175H, G245M, V274W, L194P, L194D, C238K, C238N, C176K, M246K, G245T, V274E, H178E, C242H, R175W, C176Y, E180P, C176T, V274S, H179Y, G245K, L194A, C176I, N239E, H179W, H179A, H179S, C238H, M246G, C238M, C242D, G245H, M246F, V274Y, L194K, H179N, L194T, H179V, C176N, V274H, R175F, G245R, C176W, C176S, M246R, G245A, L194G, L194S, C238W, C176L, G245Y, G245C, C176A, C238R, C176G, C238G, C242F, V274G, V274K, C176Q, L194Q, C238T, R175D, G245D, H179I, C176V, C176F, C238A, M246Y, R181P, G245E, L194W, G245W, G245N, C238V, C238L, C238P, H179R, M246D, S240P, R175Y -> [stability, functional site] --- Y126Q, Y126C, S185P, Y126T, Y126K, Y126R, Y126P, Y126E, T284P, Y126D, Y126G, Y126S, T211P, Y126V, Y126A, Y126N, S149P -> [stability, ptm] --- D281A, R273P, N239Y, R273H, W91S, K120D, R248L, G244D, H178Y, C275K, R248G, D281S, G244E, G244V, C275R, K120N, H178P, G244C, K120H, K120Q, H178D, M243T, H178Q, K120A, R248P, D281G, H178N, C275T, K120E, C275W, C275Y, N239M, H178L, K120G, R248C, K120P -> [local_interactions, long_range] --- D281C, C242W -> [local_interactions, disulfide] --- M243T, H178Q, N239M, H178N, S240Y, H178L, N239Y, S240F, H178P, C242W, H178D, S240W, H178Y -> [local_interactions, functional site] --- C238S, C238Q, C238Y, K120C, C238F, C238W, C238E, G245C, C242S, Q144C, C238R, C238G, C124A, C238I, C238H, C238M, C238T, C242G, V272C, H179C, W146C, C238K, C238A, C238N, C124S, C238V, C238L, C242A, C124G -> [long_range, disulfide] --- H178G, C238Y, E180R, M246P, C176H, E180T, H179Q, N239L, G245V, R175M, H178C, H179K, C182E, P177V, M243K, H179G, G245Q, C176M, M246Q, R181F, M246W, C182Y, C182H, E180N, G245I, M243V, C182F, L194E, M246N, M246H, M246V, R175L, H178T, E180W, C182W, M246A, R175G, H179P, R181S, H178L, M243W, R181L, C182S, C176R, R175N, E180S, R181N, E180Y, G245L, H179F, M246E, R175E, C238Q, P177H, H179E, R181Y, C238F, N239Y, M246S, E180I, P177I, C242S, M243C, M243S, E180Q, C238I, G245F, H179M, N239H, H178V, H179L, M243Q, L194C, H179T, L194N, E180H, G245S, H178I, E180F, H178A, R181V, R175H, C182R, G245M, L194P, C182V, H179D, L194D, E180G, C238K, C238N, C176K, C182M, G245T, M246K, H178E, R175C, C182L, C182G, R175T, H178S, C176Y, E180P, R181A, E180K, R181E, C176T, C182K, R181D, N239K, H179Y, P177Y, P177F, C182I, C176I, L194A, N239E, R181M, G245K, M243G, H179W, N239R, H178Y, M243A, M243Y, H179A, H179S, C238H, H178P, R175P, M246G, C238M, H178D, S240G, C182Q, L194V, N239Q, H178Q, C182A, G245H, H178N, H179C, M246F, R181H, H178M, R181Q, R181T, H179N, L194T, H179V, N239M, M243R, C176N, G245R, C176W, C242A, C176S, P177E, E180D, M246R, P177L, G245A, M243N, M243E, C238S, N239V, L194G, C176E, L194H, P177R, L194S, C238W, C176L, R175S, G245Y, C238E, R175I, M243F, R181I, G245C, E180C, N239W, C176A, H178F, C176G, P177W, C238G, C238R, M243P, R175A, M243D, R181W, C176Q, H178R, M243H, L194Q, E180M, N239I, M246C, P177M, C238T, H178K, R175D, M243T, R175Q, C242G, E180A, C182T, G245D, H179I, C176V, R181C, R175V, C182N, C176F, C238A, M246T, P177K, R181P, G245E, M246Y, H178W, G245N, G245W, R181G, C238V, E180L, C238L, N239F, P177Q, H179R, M246D, G245P -> [long_range, functional site] --- T211G, Y220M, S183T, T150H, Y126N, S269G, S183Y, Y126C, S149I, S185P, S185I, Y126V, S149F, T211K, T150K, S149C, S149P, S99M, S185G, T211L, S99V, T211E, S149K, T150L, T150V, S183G, S99L, S99W, S185K, S99D, S106G, Y126K, S149L, S149N, T211F, S185N, T211W, S183P, S185T, S99E, S183I, S185L, S185Y, S185C, Y126E, T211I, S149V, T150W, S99P, S183R, T211S, S149M, S215G, T150S, S99K, S183L, S183K, Y220L, S183F, S183V, T150C, S99R, S149R, S185Q, S185R, S149T, T211Q, S99C, S99Q, T150Y, S185V, Y126Q, S99H, S185W, Y126G, T150R, T211A, T150F, S149E, S183H, Y126T, T150E, S183W, Y126D, T211M, T150M, S99F, S185M, T150Q, S183M, Y126S, S149Y, T211Y, S185D, Y126H, T211R, S149D, S99I, T150A, T211V, S183C, S99N, S185E, S183Q, S185H, S149H, S149W, T150I, S183N, T211H, S149Q, S183E, S99G, S185F, Y126R, Y126P, T211C, S183D, T150G, Y126A -> [long_range, ptm] --- C242M, C238S, C238Q, C238Y, C242T, C238F, C238W, C242I, C238D, C238E, G245C, C242P, C242S, C238R, C238G, C242F, C238I, C238H, C242Y, C242N, C238M, C242V, C238T, C242G, C242D, C242R, H179C, C238K, C238A, C242K, C238N, C242L, C242E, C242H, C242Q, C238V, C238L, C242W, C242A, C238P -> [disulfide, functional site] --- G244V, R248P, R273P -> [stability, local_interactions, long_range] +-- R273P, R248P, G279H, C242W, D281P, G279W, G244V -> [stability, local_interactions] +-- V203G, V203D, Y236A, F134Q, I232P, H168P, R282D, G154S, I195R, F113S, V216P, L111E, S94Q, I251H, C238Y, R196D, V143A, N235F, F270T, Y126N, F134V, V218G, C135K, R248I, C238A, G245P, I255H, Y205R, V143D, G199P, I251G, S94L, V197G, E204P, C135F, L111P, Y234S, S94W, H179A, V272D, Y163T, Y205S, Y205K, A159K, Y236D, E286G, V218S, K164P, Y234Q, L194S, V197N, P278G, H179V, H179W, M246S, C238H, G244P, C238R, Y163C, C135H, R158G, I251E, Y107K, C176K, N239E, I255S, F134H, M160Y, N200G, Y126L, C176F, F270H, G245S, G226V, Y236E, I255T, Y234E, Y234P, F113K, Y220T, N235Y, Y205G, Y126C, F134K, C135E, F134T, A159E, M160G, M160P, Y236G, V217H, V218N, V217R, I251N, Y234V, G245V, Y236P, R248V, G244V, G245C, V147K, V272N, F134D, S127R, L130P, L206P, I255N, M160D, H179Q, C135W, V272A, G245E, W146D, L111T, Y234C, S96P, F113D, Y126V, L111S, R282P, Y220Q, P142H, I251P, F113P, D208G, Y107P, E171P, P151R, C176L, G245W, H193R, A159W, Y107S, F113E, I232D, G199I, F270D, R273P, Y205E, V272G, Y126K, S127Y, S94Y, R213S, Y220P, Y205Q, C176Y, V122P, Y205T, V173P, P151Y, M246F, L111N, V217F, G226I, Y205W, H179N, G245R, R213G, V197R, H179K, C176T, Y220K, G244T, G245M, S127P, A159F, F270Q, W146G, Y236H, R248P, Y220V, P190G, Y236T, G245T, H178E, C176H, C176V, C176N, I251C, V197F, Y126S, F134C, Y163G, V197H, F270V, S185P, P151I, G154T, M133R, Y220D, V216G, L111R, P151K, R282H, M246R, Y234N, F134A, L111D, M160W, Y107Q, P151G, V203Y, I255D, R175E, C238N, L194E, L188P, L111W, Q136P, A159P, F134N, Y107G, L194C, P142G, V203W, C238L, R213D, S94D, S94H, L130E, H179G, Y126Q, M246K, I251S, G226P, L194D, G244I, L130D, L111F, C176I, V272P, H193P, C176M, Y126P, Y163A, I255C, C135Y, F270E, I232S, I255G, V173N, L289P, Y126E, V147W, E285P, R158E, I195Y, C238K, S94E, G226T, E198P, Y234R, G187I, G245I, G245L, V216S, M237Y, R282G, Y163P, C176W, C238G, S94F, V143P, V143N, L194Q, I195F, L111Y, K132Y, F134G, M246D, V197W, A159D, M246G, Y205D, R267D, V173D, H179P, Y126R, Y107D, V203P, H179M, Y126D, C238W, Y107T, V217K, N131V, I255E, G245D, F270P, E180P, Y234D, P151Q, Y107R, V217W, V216N, F113Q, I255A, H179I, S127H, F270C, F113R, S127W, C135R, Y236R, Y107E, L194P, L111H, S94K, C238M, F134S, C176S, Y234K, F270N, L111Q, G245A, V218P, I232E, I251Q, M246N, V216D, M237P, I251A, A159H, Y236C, Y163K, F113C, Y163E, R249P, W146P, I232A, S149P, G262I, C238I, L194T, C176R, H179T, V203F, P151W, S94N, R158H, F113I, I251D, I195W, Y220N, G187V, L111A, K139P, G245K, H179L, R175G, F113T, F113N, Y163Q, P151E, V143G, Y234G, Y163N, L137G, V197S, Y205A, Y205C, S94R, H193W, Y126G, K132W, R175D, Y103P, R158D, F113V, H179Y, V197P, Y236K, S127I, Y236Q, Y163R, Y205V, F270A, F270K, I232G, R267P, Y107C, Y236N, F134E, C238Q, Y234A, A159R, G245H, Y220S, M169P, Y205P, H179F, G187P, R158Y, Y126A, R156P, G245Y, R213P, P151H, G226A, G112P, Y205I, M246W, G154V, N131I, E286P, V173S, Y163S, C176G, G245F, Y236V, H179S, R158F, Y220E, V143S, R175H, F134R, P151F, M246Y, K132F, Y220A, G262V, Y234T, R249G, A138P, V203R, R196P, F113A, R158N, V203H, Y126T, H179R, G226C, G154P, G245Q, F113G, Y107N, V197Y, L194A, V218D, L194N, Y107A, V173G, Y103G, F270G, F270R, A159Y, I255P, A159Q, G199V, P278S, E287P, G154I, V197D, L111C, R110P, R158P, C238F, M246H, C176Q, Y236S, F270S, Y205N, R158W, F134P, G262P, I255Q, S127K, V197A, R181P, V272S, Y236I, C176A, V197K, S94M, Y220C, V203N, V217Y, G245N, V203K, S127Q, L130G, C238T, Y163D, Y220G, C238V, L111G, L194G -> [stability, long_range] +-- C238R, C141H, C141K, C242Y, C238M, C141Y, C238F, C242H, C238I, C242P, C242D, C238G, G245C, C238Y, C124P, C141F, C141E, C242W, C238N, C141Q, C238P, C141R, C242F, C238Q, C238K, C238A, C141G, C141P, C238T, C238L, C238V, C238W, C141W, C238H -> [stability, disulfide] +-- G245I, G245L, C176L, G245W, R175D, C242P, C242D, C176W, C238G, C238Y, L194K, H179Y, V274K, V274W, L194Q, M246D, C238Q, G245H, M246G, C176Y, C238A, H179P, H179F, H179M, M246F, C238W, G245P, G245Y, V274R, L194R, H179N, G245R, V274F, V274Y, H179K, C176T, G245M, G245D, C182P, H179A, M246W, S240P, E180P, V274E, G245F, C176G, H179S, R175H, H179I, G245T, L194Y, C176H, C176P, C176V, H178E, L194S, M246Y, V274G, C176N, H179W, H179V, V274S, C238H, M246S, C238R, L194P, C242Y, C238M, C176S, R175Y, C242H, H179R, C176K, N239E, V274H, G245Q, M246R, L194A, C176F, G245S, G245A, R175F, L194N, R175E, C238N, L194E, C238P, M246N, L194C, C238L, V274Q, V274D, H179G, G245V, L194W, C238F, M246H, C238I, L194T, C176Q, M246K, C176R, H179T, L194D, G245C, V274P, C176I, C242W, R181P, C176M, R175W, G245K, H179L, C176A, H179Q, C242F, G245E, R175G, C238K, G245N, C238T, C238V, L194G -> [stability, functional site] +-- Y126C, Y126P, S149P, Y126V, Y126R, T284P, Y126G, S185P, Y126K, Y126D, Y126Q, Y126A, Y126T, Y126S, Y126E, T211P, Y126N -> [stability, ptm] +-- K120H, C275W, H178Q, N239M, H178Y, C275T, R273H, N239Y, H178D, G244V, G244C, C275K, K120G, D281A, K120Q, K120P, R248L, W91S, H178L, R273P, R248P, M243T, C275R, K120A, G244E, H178N, G244D, K120N, K120E, H178P, D281G, R248C, D281S, K120D, C275Y, R248G -> [local_interactions, long_range] +-- C242W, D281C -> [local_interactions, disulfide] +-- S240W, M243T, C242W, S240Y, H178Q, N239M, H178L, H178Y, N239Y, H178N, S240F, H178D, H178P -> [local_interactions, functional site] +-- W146C, C238R, Q144C, C238M, C238F, C238I, V272C, K120C, C238G, G245C, C238Y, C238S, H179C, C242S, C238N, C242A, C124A, C124S, C238Q, C238K, C238E, C238A, C242G, C238T, C238L, C238V, C238W, C124G, C238H -> [long_range, disulfide] +-- G245I, G245L, C176L, C182S, N239M, C182R, H178W, L194H, G245W, M243K, H179D, R175D, P177K, C176E, M243C, C176W, R181W, E180S, C238G, H178F, C238Y, H179C, R175L, H179Y, N239H, L194G, P177Y, M243N, R181C, R175V, H178L, M246A, R175T, L194Q, M243T, C182H, M246P, H178V, M246D, C238Q, H178T, G245H, M246G, R175N, M243S, C176Y, C238A, H179P, H179F, H179M, M246F, C242G, R181D, R175S, C238W, M243E, G245P, G245Y, C182W, H179N, G245R, H179K, M243A, C176T, R181M, H178Y, N239R, N239Y, H178D, N239K, G245M, G245D, R181S, M246W, H179A, H178I, P177E, P177F, P177H, R181F, E180A, E180P, G245F, C176G, R181V, C182V, R175I, C242S, R175A, H179S, P177Q, H178S, M243G, M243W, N239I, M246V, P177L, R175H, H178R, H179I, E180M, R181T, C176H, C176V, H178E, C182N, L194S, R181Q, C238E, C176N, M246Y, E180N, C182Y, H178M, E180F, N239Q, H179V, H179W, C238H, M246S, R175C, C238R, L194P, M246E, M246C, C238M, R181N, C176S, H179R, C176K, N239E, G245Q, M246R, M246Q, L194A, R181H, C176F, E180Y, C238S, S240G, G245S, E180C, G245A, M243V, R181E, P177I, R175P, L194N, R175E, C238N, L194E, H178G, E180Q, P177V, M246N, H178A, C182A, H178N, C182T, E180W, G245T, E180R, R181I, L194C, P177M, C238L, N239F, M243Y, E180D, L194V, E180G, M246T, H179E, H178Q, H179G, G245V, C238F, M246H, C238I, R175M, C176Q, L194T, C176R, M246K, H179T, M243D, L194D, C182M, G245C, H178K, E180K, C182Q, R181Y, M243F, N239V, C176I, C182G, M243Q, E180H, R181P, N239L, C176M, C242A, C182F, G245K, P177R, P177W, H179L, C182I, E180L, C176A, R181L, H179Q, C182K, H178C, G245E, M243P, R175G, R181A, H178P, C238K, N239W, M243R, G245N, C182L, C238T, E180T, C238V, M243H, C182E, R181G, R175Q, E180I -> [long_range, functional site] +-- T150Y, Y126G, S185D, T211I, T211Y, T211V, T150S, S183N, S183P, Y220L, T211S, S183E, S99C, Y126N, S185V, Y126K, S149M, S183T, S99P, S149D, S183V, Y126H, Y126R, S149K, Y126D, Y126A, S185Q, S149N, S99G, S183G, S185Y, T150L, S183Y, S183D, S185H, S149L, T211M, T150R, T211F, S185N, T150H, T150W, S183Q, T211C, S99L, S99V, S183M, S183C, S149V, S99K, Y126S, S149R, S99N, S149I, Y220M, S185W, T150A, S99R, S185P, S185E, Y126T, S149E, S149Q, T150C, S99F, T211L, T150G, T211G, T150V, S185I, S183L, T150F, T211K, S215G, T150K, T211Q, S183F, T211H, S99W, S183W, S183K, S269G, S185F, Y126C, S99D, S99E, S99I, T150E, T150I, T211E, S149P, T211W, Y126Q, S185L, S149C, S183H, S149W, S99M, S149T, T211A, S106G, S99H, S183R, Y126P, S185M, S149F, S185K, T150Q, S149Y, S99Q, S149H, Y126E, S185G, S185R, S185C, Y126V, T150M, S183I, S185T, T211R -> [long_range, ptm] +-- C238R, C242Y, C238M, C238F, C242H, C238I, C242P, C242M, C242L, C242D, C242N, C238G, G245C, C238Y, C238S, C242K, H179C, C242E, C242W, C242S, C242Q, C238N, C242A, C242R, C238P, C242F, C242I, C238Q, C242V, C238K, C238E, C238A, C238D, C242T, C242G, C238T, C238L, C238V, C238W, C238H -> [disulfide, functional site] +-- R273P, R248P, G244V -> [stability, local_interactions, long_range] -- C242W -> [stability, local_interactions, disulfide] --- G245C, C238G, C238Q, C238Y, C238I, C238V, C238F, C238W, C238H, C238L, C238K, C238M, C238A, C238N, C238T, C238R -> [stability, long_range, disulfide] --- C238Y, C176H, H179Q, G245V, H179K, H179G, G245Q, C176M, M246W, G245I, L194E, M246N, M246H, R175G, H179P, C176R, G245L, H179F, R175E, C238Q, C238F, M246S, C238I, G245F, H179M, H179L, L194C, H179T, L194N, G245S, R175H, G245M, L194P, L194D, C238K, C238N, C176K, M246K, G245T, H178E, C176Y, E180P, C176T, H179Y, G245K, L194A, C176I, N239E, H179W, H179A, H179S, C238H, M246G, C238M, G245H, M246F, H179N, L194T, H179V, C176N, G245R, C176W, C176S, M246R, G245A, L194G, L194S, C238W, C176L, G245Y, G245C, C176A, C238R, C176G, C238G, C176Q, L194Q, C238T, R175D, G245D, H179I, C176V, C176F, C238A, M246Y, R181P, G245E, G245W, G245N, C238V, C238L, H179R, M246D, G245P -> [stability, long_range, functional site] --- Y126Q, Y126C, S185P, Y126T, Y126K, Y126R, Y126P, Y126E, Y126D, Y126G, Y126S, S149P, Y126V, Y126A, Y126N -> [stability, long_range, ptm] --- C238Q, C238Y, C238F, C238W, G245C, C242P, C238R, C238G, C242F, C238I, C238H, C242Y, C238M, C238T, C242D, C238K, C238A, C238N, C242H, C238V, C238L, C242W, C238P -> [stability, disulfide, functional site] --- M243T, H178Q, N239M, H178N, H178L, N239Y, H178P, H178D, H178Y -> [local_interactions, long_range, functional site] +-- C238N, C238R, C238A, C238G, G245C, C238Y, C238M, C238F, C238T, C238L, C238I, C238Q, C238V, C238W, C238H, C238K -> [stability, long_range, disulfide] +-- G245I, G245L, C176L, G245W, R175D, C176W, C238G, C238Y, H179Y, L194Q, M246D, C238Q, G245H, M246G, C176Y, C238A, H179P, H179F, H179M, M246F, C238W, G245P, G245Y, H179N, G245R, H179K, C176T, G245M, G245D, M246W, H179A, E180P, G245F, C176G, H179S, R175H, H179I, G245T, C176H, C176V, H178E, L194S, M246Y, C176N, H179W, H179V, C238H, M246S, C238R, L194P, C238M, C176S, H179R, C176K, N239E, G245Q, M246R, L194A, C176F, G245S, G245A, L194N, R175E, C238N, L194E, M246N, L194C, C238L, H179G, G245V, C238F, M246H, C238I, L194T, C176Q, M246K, C176R, H179T, L194D, G245C, C176I, R181P, C176M, G245K, H179L, C176A, H179Q, G245E, R175G, C238K, G245N, C238T, C238V, L194G -> [stability, long_range, functional site] +-- Y126C, Y126P, S149P, Y126V, Y126R, Y126G, S185P, Y126K, Y126D, Y126Q, Y126A, Y126T, Y126S, Y126E, Y126N -> [stability, long_range, ptm] +-- C238R, C242Y, C238M, C238F, C242H, C238I, C242P, C242D, C238G, G245C, C238Y, C242W, C238N, C238P, C242F, C238Q, C238K, C238A, C238T, C238L, C238V, C238W, C238H -> [stability, disulfide, functional site] +-- M243T, H178Q, N239M, H178L, H178Y, N239Y, H178N, H178D, H178P -> [local_interactions, long_range, functional site] -- C242W -> [local_interactions, disulfide, functional site] --- C238S, C238Q, C238Y, C238F, C238W, C238E, G245C, C242S, C238R, C238G, C238I, C238H, C238M, C238T, C242G, H179C, C238K, C238A, C238N, C238V, C238L, C242A -> [long_range, disulfide, functional site] --- G245C, C238G, C238Q, C238Y, C238I, C238V, C238F, C238W, C238H, C238L, C238K, C238M, C238A, C238N, C238T, C238R -> [stability, long_range, disulfide, functional site] +-- C238R, C238M, C238F, C238I, C238G, G245C, C238Y, C238S, H179C, C242S, C238N, C242A, C238Q, C238K, C238E, C238A, C242G, C238T, C238L, C238V, C238W, C238H -> [long_range, disulfide, functional site] +-- C238N, C238R, C238A, C238G, G245C, C238Y, C238M, C238F, C238T, C238L, C238I, C238Q, C238V, C238W, C238H, C238K -> [stability, long_range, disulfide, functional site] - We aggregated all the variants that have at least one of the MAVISp modules with a predicted damaging effect (except for PTM.function) and retained only the ones with a REVEL score higher than 0.5 for a total of 687 variants which could be of interest for further investigation: -- ['W91R', 'P92A', 'P92S', 'L93V', 'S94L', 'S94P', 'S94T', 'S95F', 'S95T', 'S96P', 'S96Y', 'V97A', 'V97D', 'V97F', 'V97I', 'V97L', 'P98A', 'P98H', 'P98L', 'P98R', 'P98S', 'S99C', 'S99F', 'S99P', 'K101E', 'T102I', 'Y103C', 'Y103H', 'Y103N', 'Y103S', 'G105A', 'G105C', 'G105D', 'G105R', 'G105S', 'G105V', 'S106R', 'Y107C', 'Y107D', 'Y107H', 'Y107N', 'Y107S', 'G108C', 'G108D', 'G108S', 'G108V', 'F109C', 'F109I', 'F109S', 'F109V', 'R110G', 'R110H', 'R110L', 'R110P', 'R110S', 'L111P', 'L111Q', 'L111R', 'F113C', 'F113L', 'F113S', 'L114V', 'H115Y', 'S116C', 'S116F', 'G117A', 'G117E', 'G117R', 'G117V', 'G117W', 'T118A', 'A119G', 'K120E', 'K120M', 'K120N', 'K120Q', 'K120T', 'S121F', 'V122A', 'V122L', 'V122M', 'T123I', 'T123S', 'C124F', 'C124G', 'C124R', 'C124S', 'C124W', 'C124Y', 'T125A', 'T125K', 'T125M', 'T125P', 'T125R', 'T125S', 'Y126C', 'Y126D', 'Y126H', 'Y126N', 'Y126S', 'S127C', 'S127F', 'S127P', 'S127T', 'S127Y', 'P128L', 'P128R', 'P128S', 'A129D', 'L130F', 'L130H', 'L130P', 'L130R', 'L130V', 'N131H', 'N131I', 'N131K', 'N131S', 'N131Y', 'K132E', 'M133K', 'M133R', 'F134C', 'F134I', 'F134L', 'F134S', 'F134V', 'C135F', 'C135G', 'C135R', 'C135S', 'C135W', 'C135Y', 'Q136E', 'Q136H', 'Q136K', 'Q136L', 'Q136P', 'Q136R', 'L137P', 'L137Q', 'L137V', 'A138D', 'A138P', 'A138T', 'A138V', 'K139E', 'K139N', 'K139Q', 'K139T', 'T140A', 'T140I', 'T140S', 'C141F', 'C141G', 'C141R', 'C141S', 'C141W', 'C141Y', 'P142A', 'P142H', 'P142L', 'P142R', 'P142S', 'V143A', 'V143E', 'V143G', 'Q144H', 'Q144K', 'Q144L', 'Q144P', 'Q144R', 'L145P', 'L145R', 'W146C', 'W146G', 'W146S', 'V147F', 'V147G', 'V147I', 'D148V', 'D148Y', 'S149P', 'P151A', 'P151H', 'P151L', 'P151R', 'P151S', 'P152A', 'P152S', 'G154A', 'G154C', 'G154D', 'G154R', 'G154S', 'G154V', 'T155I', 'T155N', 'T155P', 'R156G', 'R156H', 'R156L', 'R156P', 'R156S', 'V157A', 'V157D', 'V157F', 'V157G', 'R158C', 'R158G', 'R158H', 'R158L', 'R158P', 'R158S', 'A159D', 'A159P', 'A159T', 'A159V', 'M160K', 'M160R', 'M160T', 'M160V', 'I162F', 'I162N', 'I162S', 'Y163C', 'Y163D', 'Y163H', 'Y163N', 'Y163S', 'K164E', 'K164M', 'K164N', 'K164Q', 'K164T', 'Q165E', 'Q165P', 'S166L', 'S166P', 'S166T', 'Q167H', 'Q167K', 'Q167L', 'Q167P', 'Q167R', 'H168D', 'H168L', 'H168N', 'H168P', 'H168Q', 'H168R', 'H168Y', 'M169T', 'M169V', 'T170A', 'T170K', 'T170M', 'T170R', 'T170S', 'E171A', 'E171D', 'E171G', 'V172A', 'V172D', 'V172F', 'V172G', 'V173A', 'V173E', 'V173G', 'V173M', 'R174G', 'R174M', 'R174S', 'R174T', 'R174W', 'R175C', 'R175G', 'R175H', 'R175L', 'R175P', 'R175S', 'C176F', 'C176G', 'C176R', 'C176S', 'C176W', 'C176Y', 'P177H', 'P177L', 'P177R', 'H178D', 'H178L', 'H178N', 'H178P', 'H178Q', 'H178R', 'H178Y', 'H179D', 'H179L', 'H179N', 'H179P', 'H179Q', 'H179R', 'H179Y', 'E180D', 'E180G', 'E180K', 'E180Q', 'R181C', 'R181G', 'R181H', 'R181L', 'R181P', 'R181S', 'C182G', 'C182R', 'C182W', 'C182Y', 'S183L', 'D184E', 'D184G', 'D184H', 'D184Y', 'S185R', 'D186E', 'D186G', 'D186H', 'D186V', 'G187A', 'G187C', 'G187D', 'G187R', 'G187S', 'G187V', 'L188P', 'L188Q', 'L188V', 'A189D', 'A189G', 'A189P', 'P190A', 'P190H', 'P190L', 'P190R', 'P190S', 'P190T', 'P191A', 'P191H', 'P191L', 'P191R', 'P191S', 'Q192E', 'Q192H', 'Q192K', 'Q192L', 'Q192P', 'Q192R', 'H193D', 'H193L', 'H193N', 'H193P', 'H193Q', 'H193R', 'H193Y', 'L194H', 'L194P', 'L194R', 'L194V', 'I195F', 'I195N', 'I195S', 'R196G', 'R196L', 'R196P', 'R196Q', 'V197A', 'V197E', 'V197G', 'V197L', 'V197M', 'E198D', 'E198G', 'E198K', 'E198Q', 'G199A', 'G199E', 'G199R', 'G199V', 'N200H', 'N200I', 'N200S', 'N200Y', 'L201S', 'R202H', 'R202L', 'R202P', 'V203A', 'V203E', 'V203L', 'V203M', 'E204A', 'E204G', 'E204K', 'Y205C', 'Y205D', 'Y205H', 'Y205N', 'Y205S', 'L206S', 'L206W', 'D207A', 'D207G', 'D207H', 'D207Y', 'D208A', 'D208E', 'D208G', 'D208H', 'D208V', 'D208Y', 'R209G', 'R209I', 'R209S', 'R209T', 'T211A', 'T211I', 'T211N', 'T211P', 'T211S', 'R213G', 'R213L', 'R213P', 'R213Q', 'H214L', 'H214R', 'H214Y', 'S215C', 'S215G', 'S215I', 'S215T', 'V216A', 'V216E', 'V216G', 'V217G', 'V217L', 'V218A', 'V218E', 'V218G', 'P219A', 'P219S', 'Y220C', 'Y220D', 'Y220H', 'Y220N', 'Y220S', 'E221A', 'E221D', 'E221G', 'E221K', 'P222L', 'P222Q', 'E224A', 'E224D', 'E224G', 'E224K', 'E224Q', 'V225D', 'V225F', 'V225G', 'G226A', 'G226C', 'G226D', 'G226S', 'G226V', 'S227P', 'D228A', 'D228G', 'D228H', 'D228V', 'D228Y', 'C229G', 'C229S', 'T230A', 'T230P', 'T230S', 'T231A', 'T231I', 'T231S', 'I232F', 'I232N', 'I232S', 'I232T', 'H233D', 'H233L', 'H233P', 'H233Q', 'H233R', 'H233Y', 'Y234C', 'Y234D', 'Y234H', 'Y234N', 'Y234S', 'N235H', 'N235I', 'N235K', 'N235S', 'N235Y', 'Y236C', 'Y236D', 'Y236H', 'Y236N', 'Y236S', 'M237K', 'M237R', 'M237T', 'M237V', 'C238F', 'C238G', 'C238R', 'C238S', 'C238W', 'C238Y', 'N239H', 'N239I', 'N239K', 'N239Y', 'S240G', 'S241P', 'C242F', 'C242G', 'C242R', 'C242S', 'C242W', 'C242Y', 'M243K', 'M243R', 'M243T', 'M243V', 'G244A', 'G244C', 'G244D', 'G244R', 'G244S', 'G244V', 'G245A', 'G245C', 'G245D', 'G245R', 'G245S', 'G245V', 'M246K', 'M246R', 'M246T', 'M246V', 'N247D', 'N247I', 'N247T', 'R248G', 'R248L', 'R248P', 'R248Q', 'R249G', 'R249M', 'R249S', 'R249T', 'R249W', 'P250A', 'P250S', 'I251F', 'I251N', 'I251S', 'I251T', 'I251V', 'L252H', 'L252P', 'T253P', 'I254S', 'I255F', 'I255N', 'I255S', 'I255T', 'I255V', 'L257P', 'L257Q', 'L257R', 'E258G', 'D259E', 'D259H', 'D259V', 'D259Y', 'S260C', 'S260F', 'S260P', 'S260T', 'S260Y', 'S261G', 'G262C', 'G262D', 'G262R', 'G262S', 'G262V', 'L264R', 'L265P', 'G266E', 'G266R', 'G266V', 'R267G', 'R267L', 'R267P', 'R267Q', 'R267W', 'S269G', 'S269I', 'S269N', 'S269R', 'S269T', 'F270C', 'F270I', 'F270L', 'F270S', 'F270V', 'V272A', 'V272E', 'V272G', 'R273C', 'R273G', 'R273H', 'R273L', 'R273P', 'R273S', 'V274D', 'V274F', 'V274G', 'C275F', 'C275G', 'C275R', 'C275S', 'C275W', 'C275Y', 'A276G', 'A276P', 'A276T', 'C277F', 'C277G', 'C277R', 'C277S', 'C277W', 'C277Y', 'P278A', 'P278H', 'P278L', 'P278R', 'P278S', 'P278T', 'G279A', 'G279E', 'G279R', 'G279V', 'G279W', 'R280G', 'R280I', 'R280K', 'R280S', 'R280T', 'D281A', 'D281G', 'D281V', 'D281Y', 'R282G', 'R282L', 'R282P', 'R282Q', 'R282W', 'R283P', 'T284I', 'T284P', 'T284R', 'E285A', 'E285D', 'E285G', 'E286A', 'E286D', 'E286G', 'E287A', 'E287G', 'L289P'] - We aggregated all the variants that have at least one of the MAVISp modules with a predicted damaging effect (except for PTM.function) and retained only the ones with a Demask delta fitness >= 0.25 or <= -0.25 for a total of 2044 variants which could be of interest for further investigation: diff --git a/dot_plot/examples_v2/new_entry_examples/clinical_impact/mechanistic_indicators_out.csv b/dot_plot/examples_v2/new_entry_examples/clinical_impact/mechanistic_indicators_out_clinical_impact.csv similarity index 100% rename from dot_plot/examples_v2/new_entry_examples/clinical_impact/mechanistic_indicators_out.csv rename to dot_plot/examples_v2/new_entry_examples/clinical_impact/mechanistic_indicators_out_clinical_impact.csv diff --git a/dot_plot/examples_v2/new_entry_examples/germline/dot_plot.pdf b/dot_plot/examples_v2/new_entry_examples/germline/dot_plot.pdf index d25db4b..4f397cb 100644 Binary files a/dot_plot/examples_v2/new_entry_examples/germline/dot_plot.pdf and b/dot_plot/examples_v2/new_entry_examples/germline/dot_plot.pdf differ diff --git a/dot_plot/examples_v2/new_entry_examples/germline/log.txt b/dot_plot/examples_v2/new_entry_examples/germline/log_germline.txt similarity index 87% rename from dot_plot/examples_v2/new_entry_examples/germline/log.txt rename to dot_plot/examples_v2/new_entry_examples/germline/log_germline.txt index 4a47112..5934e92 100644 --- a/dot_plot/examples_v2/new_entry_examples/germline/log.txt +++ b/dot_plot/examples_v2/new_entry_examples/germline/log_germline.txt @@ -46,28 +46,28 @@ Summary of the effects. - 323 variants are damaging for Functional site ['cofactor'] module See csv file for details. - No classification for Long Range-PSN available yet. - Variants with multiple effects: --- G244V, C242W, D281P, R273P, G279H, G279W, R248P -> [stability, local_interactions] --- V217Y, P151G, F113V, R196P, V197K, F270V, M160G, C135W, S94H, Y107E, G112P, Y205N, I251N, L111Y, G226V, Y236N, F270P, V218D, H193W, Y163P, Y205I, W146D, F270Q, G199P, M246S, C176H, G245L, F270K, Y205P, V203P, Y234S, Y107R, L130E, R110P, V197A, F134Q, C176G, F134P, R158P, R158G, A159F, F134A, F134R, M133R, Y163R, V197F, I251C, R248I, N239E, I255Q, P151F, Y205A, A159Y, V143P, Y205K, L111W, I232D, Y236I, C238K, Y107N, V203R, F134E, M246D, A138P, V173N, G226I, L194N, C176T, V203N, I232A, I251H, V203H, G245W, R175E, V216S, M246G, F134T, L111E, I255N, V216D, V143A, Y236E, Y103G, V122P, G154V, Y236T, S94L, Y236V, F270H, Y236C, R158E, H179A, H179S, G199I, A159W, Y126K, F134H, L194E, C176I, F134V, R196D, I232G, N131V, H193P, I255A, Y107Q, S127Y, Y220P, Y163G, R249G, Y220A, C238W, G245I, Y236R, Y236H, H179P, H179Q, L194C, G154I, F113C, A159H, R273P, F270D, P151Q, G154S, G262P, H168P, C238L, I255D, C176S, Y126S, M160D, I251A, G187I, M160W, L111C, V147K, F134N, G245V, R267P, V203G, V197G, Y126L, I255S, Y236K, S149P, Y205E, Y220C, F270S, C238G, L111T, E198P, C176A, N235F, V272D, H179R, V203Y, G226C, A159R, Y107G, Y107D, F134D, I251Q, F270T, V218P, F113S, M246F, C176K, C176F, R158F, V143N, L111A, L111R, C135F, V197N, C238H, S94E, N131I, Q136P, P142G, F113K, G245C, V272G, L137G, E285P, C176Y, Y236A, V197R, F134K, F113N, Y107A, L111D, L194Q, M237P, G245K, C135R, I255H, R158D, Y236Q, Y163C, C176L, H179L, R267D, M160Y, G244T, V143G, Y236P, F270R, Y234N, C238R, R158N, V147W, Y163S, S94R, R175H, V173D, Y234C, Y126E, V197D, S94K, V217H, K139P, A159K, F134S, M246H, P278G, Y163N, C135Y, S127H, R213P, V217K, Y126N, C135E, G244V, S94Y, S127R, V197H, G187P, L111H, S127Q, C238A, P151K, L194T, C238M, Y126Q, V217R, G245R, V218N, C238Y, R156P, L111P, Y126D, Y126P, K132F, G226P, G245N, V216P, R282G, E286P, C238Q, F113Q, G245F, Y220T, Y220Q, V143D, F113G, Y234Q, P151E, G245D, G245P, P278S, H179W, F113E, S94F, V197Y, I251P, V272P, H179Y, Y205R, Y107S, H179M, I255C, I255T, G154T, I195Y, C238F, Y126C, G262I, C176M, L111Q, Y236S, V173G, R213G, F270C, S94N, C238N, V143S, V216G, Y236D, R158W, R175D, R282D, S94Q, V272A, P142H, I251S, C176Q, G226A, Y234R, Y126R, Y107K, L289P, P151H, H179G, L111N, F270G, G244P, C176R, G244I, F270N, E171P, M169P, E286G, Y205V, Y234G, Y220D, Y234P, Y220G, I232S, L194P, Y220S, Y163D, S127K, G154P, Y205C, V218S, C238I, L194S, S127P, L188P, G245A, A159P, Y126V, W146P, S185P, L130G, W146G, C135K, L206P, V216N, F270A, V218G, I195R, G245Y, I232E, D208G, Y107P, V272N, P151Y, Y220V, F134G, F134C, F113D, S96P, Y234E, P151W, Y107C, I232P, Y205Q, Y220N, M246Y, Y205S, G245S, C238T, K132W, A159D, F113A, H179N, S127I, R158Y, F270E, G245E, F113R, G245T, Y234V, L111S, R282P, F113T, L194G, F113I, V197P, Y220E, A159Q, R248V, V173P, M246W, Y103P, L194A, R213S, P190G, I195W, V203F, Y205G, C238V, Y205D, C176N, Y163Q, N200G, I255E, R248P, H179I, M246K, Y126A, H179K, K132Y, Y107T, Y205T, P151R, Y126T, G245H, Y234D, G245M, Y236G, L194D, I251D, I255G, P151I, V173S, Y234A, Y205W, H179V, E204P, R158H, L130P, V203D, Y234T, S94D, M246R, V203K, G245Q, R249P, G226T, H178E, H179T, C176W, M160P, M246N, E287P, Y220K, Y234K, S94M, I251G, G187V, Y163T, A159E, L111F, C176V, H193R, E180P, L111G, I255P, L130D, Y163A, G262V, Y163K, Y126G, R175G, C135H, S94W, N235Y, R282H, R181P, G199V, V197W, V197S, S127W, V217F, I251E, V203W, Y163E, V272S, K164P, F113P, V217W, M237Y, H179F, R213D, I195F -> [stability, long_range] --- C141Q, C141E, C238N, C238H, C141R, C238W, C238Q, C238R, C141P, C141G, G245C, C242P, C238G, C141W, C242F, C242H, C141F, C238P, C141K, C238I, C238A, C141H, C242D, C124P, C238K, C242W, C238T, C238M, C242Y, C238V, C141Y, C238L, C238Y, C238F -> [stability, disulfide] --- V274G, G245N, G245E, G245V, G245T, R175F, C238Q, L194G, S240P, G245F, V274D, C238G, C242H, M246W, L194A, C176A, G245D, G245P, H179W, M246S, C176H, H179R, G245L, V274K, C238V, C176N, H179Y, V274Q, H179M, C176G, L194K, C238F, M246F, C176K, C176F, H179I, M246K, H179K, C176M, G245H, C238N, C176P, C238H, G245M, N239E, V274W, L194D, V274P, G245C, R175D, V274E, C242F, L194W, C176Y, R175W, C238P, L194R, C176Q, C238K, H179G, L194Q, M246D, C176R, H179V, G245K, V274R, L194N, C176T, M246R, G245Q, C176L, H179L, G245W, H178E, R175E, H179T, M246G, C176W, L194P, C238R, M246N, C242P, V274H, V274F, R175H, C238I, L194S, H179A, H179S, C242D, G245A, V274S, L194Y, C176V, L194E, E180P, C176I, M246H, G245Y, C238W, R175G, G245I, C182P, R181P, H179P, H179Q, L194C, V274Y, M246Y, C238A, C242W, C238T, L194T, G245S, C238M, C242Y, H179F, G245R, H179N, R175Y, C238L, C176S, C238Y -> [stability, functional site] --- Y126G, Y126C, Y126A, Y126D, Y126N, Y126P, Y126E, Y126Q, Y126K, Y126V, T284P, S149P, S185P, Y126T, Y126R, T211P, Y126S -> [stability, ptm] --- R273H, R248C, G244C, M243T, C275K, H178D, K120A, H178P, N239M, K120N, K120D, G244D, G244V, H178Y, G244E, W91S, D281S, N239Y, C275T, D281G, K120E, K120P, C275Y, K120Q, R273P, C275W, H178N, C275R, R248G, H178L, H178Q, K120H, R248L, D281A, K120G, R248P -> [local_interactions, long_range] +-- R273P, G279W, C242W, G244V, R248P, G279H, D281P -> [stability, local_interactions] +-- V218N, C135K, R282D, G199I, H193R, M246K, Y205N, Y126C, V203K, Y236E, I251P, G245C, V272N, L111F, F113T, R248P, A159E, V203G, Y234Q, Y126V, I255S, Y220C, F134C, G226I, L194P, Y126D, V217W, I251N, F113P, Y163D, G187P, Y205W, C135H, C238T, F113V, F270A, G226T, V197S, N200G, Y236I, Y163N, G199V, G244P, L130E, I255Q, I232D, Y234N, Y107A, P151E, G244T, G226P, F270T, G226V, R196D, Y107E, S94D, P278S, R282G, F134P, Y205R, M160D, S94F, P142H, Y163R, Y163Q, P151G, Y126G, Y107D, S127K, F270G, Y103P, V197K, I255N, N235Y, R175H, Y205C, V218G, F270D, L130G, C238A, F113N, F270E, Y205P, Y220Q, Y234D, V203F, H179S, R158Y, G245E, S127Y, L111C, V197P, G245F, Y234V, R175E, Q136P, Y205T, K132W, G154I, R248V, Y163A, R110P, M246W, C135Y, C176T, H179R, H179A, N235F, G154V, C135F, I232A, R282H, F113S, Y126S, R267P, L194S, S149P, I232S, V143P, F134N, G199P, E287P, Y236N, Y205A, N131V, G245R, V272P, L111Y, V143S, L188P, V143D, F113Q, S94R, Y234K, V272A, Y234C, R175D, M133R, L206P, C176L, L194C, H193P, V272S, Y126T, I251C, M246R, H179V, V173G, V197N, V143G, F113D, G245S, L111E, F270R, V203D, R213P, C176M, E286G, F134T, C176Y, V203N, F134E, Y220T, G187I, C238V, P151R, Y205I, A159D, V122P, I195F, V173S, Y236P, Y236Q, Y163S, G154P, C238M, S127P, C238I, C176A, A159W, L111N, Y107C, H168P, F270Q, S94W, E171P, P190G, I255G, V173D, S94L, M246D, Y236K, R158P, G245D, V216S, L111H, I251S, C238W, C176R, L111A, R213S, I232E, R175G, V272G, G262V, S185P, Y234A, M237Y, V216N, Y205S, Y205V, F113A, R213D, P151I, L194T, V143N, L111G, R158F, Y107R, F134S, A159H, V197H, V197F, C238K, R158W, L194D, Y220E, V197Y, G245K, Y234R, P151Q, Y234S, H179I, S94N, G262I, G245Q, I255C, H179P, G245W, L289P, Y126L, R158H, V217R, M246H, L130D, K132Y, Y220N, F134R, Y236H, S94Q, C238N, V147W, F270N, N131I, P151H, Y220K, V173P, R267D, F134Q, Y205E, Y107P, M169P, I195W, G262P, Y220G, F113E, V217H, G245P, F113G, F134V, C238H, V197A, Y220S, S127R, R158N, H179M, Y126A, V147K, Y107K, P151Y, Y205D, W146G, S96P, P151K, W146D, Y236A, M246F, C176V, I255P, Y163P, G245H, L194G, G245L, I195R, S127H, G244I, Y163K, E198P, G226A, S94M, Y126E, K164P, C135E, F134A, R282P, H179F, Y234G, L137G, R249P, R158D, L111S, R158G, Y107S, I251H, Y107T, S127Q, S94Y, L111Q, I251Q, V203R, R158E, C176K, G245M, R156P, E204P, S94K, M160W, H179Q, E180P, C176Q, F270S, L111P, I255H, H178E, K139P, V203H, S127W, R181P, V203Y, G245I, V197G, I251G, H179T, M160G, D208G, G245N, Y220V, L111R, H179L, Y163E, H179W, Y126P, C238Q, L194N, L194A, Y163T, I255D, V216G, V218S, A159Y, M246Y, C238R, F270P, L111W, R196P, C176H, Y126K, V272D, C135W, G245T, V197W, F270V, C176W, Y126N, F134H, F270H, C176G, M160Y, G112P, V197D, Y126Q, C176N, A159R, V173N, C238L, I232P, F113C, Y220P, I195Y, R273P, I251E, Y220A, H193W, C238G, L111D, F134K, S94H, C238Y, L194E, V217F, P151W, V217Y, V217K, P151F, Y236S, I232G, A159Q, A159F, C135R, Y236C, C176S, G245Y, L194Q, I251A, P278G, M237P, G187V, C176I, Y236V, C176F, P142G, L130P, H179K, E285P, Y205K, G245A, V203P, M160P, N239E, Y107G, R249G, F113K, V216P, V143A, M246S, S94E, F113I, F270K, F270C, H179G, Y126R, Y236D, C238F, K132F, Y234T, V203W, V216D, Y234E, G226C, A138P, L111T, Y236T, Y163G, S127I, Y236G, G154T, Y103G, G244V, Y205Q, Y220D, F134D, Y236R, M246N, A159P, M246G, W146P, G154S, I255E, I255A, G245V, Y234P, V218P, I255T, E286P, R248I, F113R, A159K, Y107N, Y107Q, V197R, F134G, I251D, V218D, H179Y, Y205G, H179N, Y163C, R213G -> [stability, long_range] +-- C141F, C242H, C141Q, C141Y, C238P, C124P, C238R, C238M, C238L, C238A, G245C, C141E, C238I, C141W, C238F, C242W, C238H, C141H, C141P, C242D, C238G, C242Y, C242F, C238K, C141K, C242P, C238Y, C141R, C141G, C238N, C238V, C238T, C238W, C238Q -> [stability, disulfide] +-- V274H, C176L, C176P, L194C, M246K, C176N, M246R, H179V, C238L, G245C, G245P, R175F, G245S, L194R, C238H, C242D, R175W, C238G, L194P, C242F, C176M, C242P, H179M, L194E, C238Y, V274D, C176Y, L194K, C238V, M246F, C238T, C176V, C176S, G245H, L194G, G245L, G245Y, L194Q, C238M, H179F, C238I, V274F, C176A, C176I, V274Q, C242W, C176F, H179K, M246D, C176K, G245M, R175Y, V274G, G245A, G245D, V274W, H179Q, E180P, C238W, N239E, C176Q, C176R, C242H, V274S, M246S, R175G, R175H, H179G, H178E, C238A, R181P, L194Y, C238F, V274R, H179S, G245I, L194T, G245E, C242Y, G245F, R175E, C238K, H179T, L194D, G245N, H179L, C182P, G245K, M246W, H179W, C176T, H179R, H179A, C238Q, L194N, L194A, H179I, L194S, C238P, M246N, G245Q, H179P, M246G, G245W, M246Y, C238R, V274P, V274E, G245V, C176H, G245R, M246H, L194W, G245T, C176W, H179Y, V274K, C238N, V274Y, H179N, R175D, S240P, C176G -> [stability, functional site] +-- Y126N, Y126S, Y126R, Y126A, Y126P, Y126V, S149P, Y126D, Y126Q, Y126G, T211P, T284P, Y126K, Y126T, Y126C, Y126E, S185P -> [stability, ptm] +-- R248G, K120N, G244D, R248C, H178N, K120E, H178Q, D281S, N239Y, C275K, C275Y, K120G, M243T, D281G, G244E, R248P, K120H, C275T, R273P, K120Q, N239M, C275R, R248L, G244C, C275W, H178Y, R273H, D281A, H178P, K120D, K120P, H178D, G244V, W91S, H178L, K120A -> [local_interactions, long_range] -- D281C, C242W -> [local_interactions, disulfide] --- H178Q, S240F, M243T, H178D, N239Y, H178Y, S240W, C242W, S240Y, H178P, N239M, H178N, H178L -> [local_interactions, functional site] --- Q144C, C242A, C124G, V272C, C242G, C238S, C238N, C238H, C238W, C238Q, C238R, H179C, C242S, G245C, C124S, C238G, W146C, C238I, C124A, C238E, C238A, K120C, C238K, C238T, C238M, C238V, C238L, C238Y, C238F -> [long_range, disulfide] --- P177R, M246E, M243T, M243G, M243P, H178D, M243Y, C242A, R181M, G245N, H178S, G245E, G245V, M246Q, N239M, R175S, C238S, G245T, S240G, C238Q, P177V, H179C, L194G, M246T, C182H, R181S, G245F, H178T, R181W, C238G, M246W, L194A, C182T, C176A, M246K, H178K, G245D, N239I, M243A, H179W, G245P, M243R, C182Y, M246S, C176H, H179R, N239V, G245L, L194H, N239K, H178L, R181L, H178C, C238V, C176N, H179Y, H178A, M243W, M246V, H179M, C182Q, P177K, C176G, E180M, R175P, C182N, E180A, C238F, C176K, C176F, H178F, H178M, H179I, C182A, H179K, P177I, M246F, C176M, H178G, E180I, E180L, R181N, R181I, C182M, E180D, M246C, G245H, C238N, P177E, C238H, G245M, C182R, H178Y, N239E, H178W, L194D, G245C, R181V, R175D, E180Q, M243Q, R175I, C176Y, P177W, E180Y, C182K, C176Q, R181D, E180H, R181H, C182W, C238K, R181C, H179G, L194Q, R175L, M246D, C176R, H179V, G245K, P177H, N239W, M243N, L194N, E180G, C176T, M246R, R175A, C182F, R181F, G245Q, C176L, P177Y, H179L, G245W, H178E, R175E, R175V, R181A, P177Q, H179T, M246G, R175T, C176W, H178I, C182L, R181E, L194P, C238R, M246N, C242S, E180K, C182I, P177L, H179E, R175H, R175Q, R181G, C238I, M243K, R181Y, L194S, C182S, E180N, H179A, H179S, E180T, N239F, G245A, P177M, R181T, H178V, R175C, C182E, C176V, L194E, E180P, N239H, C176I, M243S, E180W, M246A, E180F, R181Q, M246H, N239Q, E180R, C182V, M243F, G245Y, H178P, C242G, C182G, C238W, R175G, M243D, G245I, R181P, P177F, N239L, M243H, H179P, H179Q, L194V, L194C, M243E, M243V, N239R, E180S, C176E, N239Y, E180C, C238E, M246Y, M246P, C238A, R175N, R175M, H178N, G245S, H179D, L194T, H178Q, C238M, C238T, H178R, H179F, G245R, H179N, C238L, M243C, C176S, C238Y -> [long_range, functional site] --- S99K, S99F, Y126P, Y126D, S99M, S183E, T211S, T150R, S149P, T150M, T211K, T150E, S185V, T150W, S185E, S99R, S215G, S183C, S183K, S149F, S149I, S183W, T211E, Y126C, S185Y, Y126A, S99Q, S185W, S185N, T211C, S99W, T150V, Y126T, S99E, S99I, S99C, S183P, S149W, S149V, T211A, T150C, S149T, S183N, S149K, S185I, Y126R, T150L, S99H, S149R, S99L, T150A, S149M, Y126H, S185F, T211L, T150S, T211M, S185Q, S185R, S149Y, T211Q, T211H, S185M, S185T, Y126E, S269G, S149D, T211W, Y126V, Y126K, S185G, S99D, S183I, T211G, T150Q, S185L, S185P, S149N, S149H, S183D, S185H, S99N, S99G, S99V, T150K, S149Q, S183T, S183R, S183G, S106G, Y126G, Y126N, S183F, T211V, T211I, T211F, T211R, T150H, S149E, S183H, S185C, S183Y, S185K, Y220L, T150F, T211Y, T150Y, S183M, S183V, S149L, T150G, S185D, T150I, Y220M, S149C, Y126Q, S99P, Y126S, S183L, S183Q -> [long_range, ptm] --- C242A, C238D, C242M, C242I, C242G, C238S, C238N, C242V, C238H, C238W, C238Q, H179C, C238R, C242S, C242Q, G245C, C242P, C238G, C242F, C242H, C238P, C238I, C242R, C238E, C242T, C238A, C242D, C238K, C242W, C238T, C242E, C238M, C242Y, C238V, C242L, C242K, C238L, C238Y, C242N, C238F -> [disulfide, functional site] --- G244V, R273P, R248P -> [stability, local_interactions, long_range] +-- N239Y, H178Y, H178P, S240Y, M243T, N239M, H178D, H178N, H178L, S240W, S240F, H178Q, C242W -> [local_interactions, functional site] +-- H179C, C238R, C238M, V272C, C238L, C238A, G245C, C238I, C124A, C238F, C242A, C238H, C124S, W146C, C238G, C238K, C242S, C238E, C242G, C124G, C238Y, C238S, Q144C, C238N, C238V, K120C, C238T, C238W, C238Q -> [long_range, disulfide] +-- M246P, C176L, L194C, P177Y, H178M, M246K, R175Q, E180W, C176N, R181F, M246R, H179V, C238L, G245C, R181D, G245P, C176E, M243F, G245S, C182E, C238H, H178I, E180Q, E180D, R181M, L194V, C238G, E180T, L194P, R181N, C176M, R181T, C238E, C182S, H179M, R175N, H178Y, L194E, C238Y, R175I, C176Y, R175C, M243H, H178D, C182R, E180A, E180H, C182K, C238V, M243Q, C238T, C176V, M246F, H178C, M243A, C176S, P177L, G245H, L194H, L194G, G245L, E180K, M243S, G245Y, L194Q, M243K, C182I, N239Y, P177I, C238M, H179F, C238I, C176A, C182A, C176I, R181V, H178G, C242A, R175S, H178S, E180L, P177R, C176F, P177H, N239M, M243D, H179K, H178F, N239L, C176K, H179D, G245M, M246D, R175L, N239I, G245A, C182T, G245D, H179Q, P177K, R181E, H178R, E180N, E180P, C238W, N239E, R181G, N239W, C176Q, C176R, P177E, C182G, R175P, M243R, M243P, M246S, R181L, H179C, R175G, R175H, M243E, M246A, H178Q, S240G, C182M, H179G, C182W, E180G, C182Y, N239F, H178E, P177V, E180Y, M243G, C238A, E180C, E180M, R181P, M243Y, P177F, C238F, N239V, P177M, H178K, H179S, C182Q, C182L, M246Q, G245I, L194T, M243W, P177W, G245E, P177Q, N239H, G245F, E180I, R175E, R181W, C238K, M246V, H179T, R181S, L194D, G245N, R181H, H179L, G245K, M246W, H179W, H179R, C176T, M246E, H179A, H178L, M246T, N239R, R175M, H178A, C238Q, R175T, E180R, L194A, H179I, L194N, N239K, L194S, M246N, R175V, R181I, G245Q, H178N, H179P, E180F, M246G, C182F, G245W, M246C, M246Y, C238R, G245V, M243T, R181Y, C176H, H178T, G245R, R175A, H179E, C182H, M246H, R181A, N239Q, M243N, G245T, M243V, H178V, C242S, C176W, C242G, R181Q, C238S, H178P, H179Y, C182V, H178W, C238N, E180S, M243C, H179N, R175D, R181C, C176G, C182N -> [long_range, functional site] +-- Y220M, S99D, Y126Q, S185G, T150S, T211A, T150Y, Y126T, Y126C, S185D, S99K, S149V, S149C, S149D, T211G, T150W, S149I, Y126V, Y220L, S99Q, Y126D, S185L, Y126A, T150G, S99N, S185W, S149E, S149Y, S149K, S185T, S149M, S99P, T211H, T150L, S185Y, Y126E, S185K, T211Q, S99H, S183C, S149N, S99M, T211S, T150V, S99F, S185N, T211V, S106G, S149R, T150H, S183M, T150E, S183N, Y126G, S185E, S183R, S183L, T211C, S185Q, S185P, T211R, T150C, T150Q, T211Y, Y126R, S183F, S185V, S185R, T150K, S99E, T211W, S185F, T150F, S149H, S99I, T211I, S183K, S183W, S149T, S149Q, S183E, S185C, S183I, S183G, S149L, S183D, S215G, S185M, S99V, S99L, S183H, S183P, Y126P, Y126S, T150R, T150M, T211E, S149P, T211L, T211K, T211F, S183Q, S99C, S149F, S185I, Y126K, T150I, S185H, S99G, S183T, T211M, S99W, S149W, S183V, Y126H, S99R, T150A, Y126N, S269G, S183Y -> [long_range, ptm] +-- C242L, C242H, C238D, C238P, H179C, C242R, C242Q, C238R, C242I, C238M, C238L, C238A, G245C, C238I, C238F, C242A, C242W, C238H, C242V, C242D, C242E, C238G, C242Y, C242F, C242M, C238K, C242S, C238E, C242G, C242P, C242K, C238Y, C238S, C242N, C238N, C238V, C242T, C238T, C238W, C238Q -> [disulfide, functional site] +-- R273P, R248P, G244V -> [stability, local_interactions, long_range] -- C242W -> [stability, local_interactions, disulfide] --- C238T, C238H, C238M, C238W, C238I, C238V, C238Q, C238R, C238A, G245C, C238L, C238G, C238Y, C238K, C238N, C238F -> [stability, long_range, disulfide] --- G245N, G245E, G245V, G245T, C238Q, L194G, G245F, C238G, M246W, L194A, C176A, G245D, G245P, H179W, M246S, C176H, H179R, G245L, C238V, C176N, H179Y, H179M, C176G, C238F, M246F, C176K, C176F, H179I, M246K, H179K, C176M, G245H, C238N, C238H, G245M, N239E, L194D, G245C, R175D, C176Y, C176Q, C238K, H179G, L194Q, M246D, C176R, H179V, G245K, L194N, C176T, M246R, G245Q, C176L, H179L, G245W, H178E, R175E, H179T, M246G, C176W, L194P, C238R, M246N, R175H, C238I, L194S, H179A, H179S, G245A, C176V, L194E, E180P, C176I, M246H, G245Y, C238W, R175G, G245I, R181P, H179P, H179Q, L194C, M246Y, C238A, G245S, C238T, L194T, C238M, H179F, G245R, H179N, C238L, C176S, C238Y -> [stability, long_range, functional site] --- Y126G, Y126C, Y126A, Y126D, Y126N, Y126P, Y126E, Y126Q, Y126K, Y126V, S149P, S185P, Y126T, Y126R, Y126S -> [stability, long_range, ptm] --- C238N, C238H, C238W, C238Q, C238R, G245C, C242P, C238G, C242H, C242F, C238P, C238I, C238A, C242D, C238K, C242W, C238T, C238M, C242Y, C238V, C238L, C238Y, C238F -> [stability, disulfide, functional site] --- H178Q, M243T, H178D, N239Y, H178Y, H178P, N239M, H178N, H178L -> [local_interactions, long_range, functional site] +-- C238H, C238R, C238Y, C238M, C238L, C238A, G245C, C238G, C238I, C238N, C238V, C238K, C238F, C238T, C238W, C238Q -> [stability, long_range, disulfide] +-- C176L, L194C, M246K, C176N, M246R, H179V, C238L, G245C, G245P, G245S, C238H, C238G, L194P, C176M, H179M, L194E, C238Y, C176Y, C238V, M246F, C238T, C176V, C176S, G245H, L194G, G245L, G245Y, L194Q, C238M, H179F, C238I, C176A, C176I, C176F, H179K, M246D, C176K, G245M, G245A, G245D, H179Q, E180P, C238W, N239E, C176Q, C176R, M246S, R175G, R175H, H179G, H178E, C238A, R181P, C238F, H179S, G245I, L194T, G245E, G245F, R175E, C238K, H179T, L194D, G245N, H179L, G245K, M246W, H179W, C176T, H179R, H179A, C238Q, L194N, L194A, H179I, L194S, M246N, G245Q, H179P, M246G, G245W, M246Y, C238R, G245V, C176H, G245R, M246H, G245T, C176W, H179Y, C238N, H179N, R175D, C176G -> [stability, long_range, functional site] +-- Y126N, Y126S, Y126R, Y126A, Y126P, Y126V, S149P, Y126D, Y126Q, Y126G, Y126K, Y126T, Y126C, Y126E, S185P -> [stability, long_range, ptm] +-- C242H, C238P, C238R, C238M, C238L, C238A, G245C, C238I, C238F, C242W, C238H, C242D, C238G, C242Y, C242F, C238K, C242P, C238Y, C238N, C238V, C238T, C238W, C238Q -> [stability, disulfide, functional site] +-- N239Y, H178Y, H178P, M243T, N239M, H178D, H178N, H178L, H178Q -> [local_interactions, long_range, functional site] -- C242W -> [local_interactions, disulfide, functional site] --- C242A, C242G, C238S, C238N, C238H, C238W, C238Q, H179C, C238R, C242S, G245C, C238G, C238I, C238E, C238A, C238K, C238T, C238M, C238V, C238L, C238Y, C238F -> [long_range, disulfide, functional site] --- C238T, C238H, C238M, C238W, C238I, C238V, C238Q, C238R, C238A, G245C, C238L, C238G, C238Y, C238K, C238N, C238F -> [stability, long_range, disulfide, functional site] +-- H179C, C238R, C238M, C238L, C238A, G245C, C238I, C238F, C242A, C238H, C238G, C238K, C242S, C238E, C242G, C238Y, C238S, C238N, C238V, C238T, C238W, C238Q -> [long_range, disulfide, functional site] +-- C238H, C238R, C238Y, C238M, C238L, C238A, G245C, C238G, C238I, C238N, C238V, C238K, C238F, C238T, C238W, C238Q -> [stability, long_range, disulfide, functional site] - We aggregated all the variants that have at least one of the MAVISp modules with a predicted damaging effect (except for PTM.function) and retained only the ones with a REVEL score higher than 0.5 for a total of 687 variants which could be of interest for further investigation: -- ['W91R', 'P92A', 'P92S', 'L93V', 'S94L', 'S94P', 'S94T', 'S95F', 'S95T', 'S96P', 'S96Y', 'V97A', 'V97D', 'V97F', 'V97I', 'V97L', 'P98A', 'P98H', 'P98L', 'P98R', 'P98S', 'S99C', 'S99F', 'S99P', 'K101E', 'T102I', 'Y103C', 'Y103H', 'Y103N', 'Y103S', 'G105A', 'G105C', 'G105D', 'G105R', 'G105S', 'G105V', 'S106R', 'Y107C', 'Y107D', 'Y107H', 'Y107N', 'Y107S', 'G108C', 'G108D', 'G108S', 'G108V', 'F109C', 'F109I', 'F109S', 'F109V', 'R110G', 'R110H', 'R110L', 'R110P', 'R110S', 'L111P', 'L111Q', 'L111R', 'F113C', 'F113L', 'F113S', 'L114V', 'H115Y', 'S116C', 'S116F', 'G117A', 'G117E', 'G117R', 'G117V', 'G117W', 'T118A', 'A119G', 'K120E', 'K120M', 'K120N', 'K120Q', 'K120T', 'S121F', 'V122A', 'V122L', 'V122M', 'T123I', 'T123S', 'C124F', 'C124G', 'C124R', 'C124S', 'C124W', 'C124Y', 'T125A', 'T125K', 'T125M', 'T125P', 'T125R', 'T125S', 'Y126C', 'Y126D', 'Y126H', 'Y126N', 'Y126S', 'S127C', 'S127F', 'S127P', 'S127T', 'S127Y', 'P128L', 'P128R', 'P128S', 'A129D', 'L130F', 'L130H', 'L130P', 'L130R', 'L130V', 'N131H', 'N131I', 'N131K', 'N131S', 'N131Y', 'K132E', 'M133K', 'M133R', 'F134C', 'F134I', 'F134L', 'F134S', 'F134V', 'C135F', 'C135G', 'C135R', 'C135S', 'C135W', 'C135Y', 'Q136E', 'Q136H', 'Q136K', 'Q136L', 'Q136P', 'Q136R', 'L137P', 'L137Q', 'L137V', 'A138D', 'A138P', 'A138T', 'A138V', 'K139E', 'K139N', 'K139Q', 'K139T', 'T140A', 'T140I', 'T140S', 'C141F', 'C141G', 'C141R', 'C141S', 'C141W', 'C141Y', 'P142A', 'P142H', 'P142L', 'P142R', 'P142S', 'V143A', 'V143E', 'V143G', 'Q144H', 'Q144K', 'Q144L', 'Q144P', 'Q144R', 'L145P', 'L145R', 'W146C', 'W146G', 'W146S', 'V147F', 'V147G', 'V147I', 'D148V', 'D148Y', 'S149P', 'P151A', 'P151H', 'P151L', 'P151R', 'P151S', 'P152A', 'P152S', 'G154A', 'G154C', 'G154D', 'G154R', 'G154S', 'G154V', 'T155I', 'T155N', 'T155P', 'R156G', 'R156H', 'R156L', 'R156P', 'R156S', 'V157A', 'V157D', 'V157F', 'V157G', 'R158C', 'R158G', 'R158H', 'R158L', 'R158P', 'R158S', 'A159D', 'A159P', 'A159T', 'A159V', 'M160K', 'M160R', 'M160T', 'M160V', 'I162F', 'I162N', 'I162S', 'Y163C', 'Y163D', 'Y163H', 'Y163N', 'Y163S', 'K164E', 'K164M', 'K164N', 'K164Q', 'K164T', 'Q165E', 'Q165P', 'S166L', 'S166P', 'S166T', 'Q167H', 'Q167K', 'Q167L', 'Q167P', 'Q167R', 'H168D', 'H168L', 'H168N', 'H168P', 'H168Q', 'H168R', 'H168Y', 'M169T', 'M169V', 'T170A', 'T170K', 'T170M', 'T170R', 'T170S', 'E171A', 'E171D', 'E171G', 'V172A', 'V172D', 'V172F', 'V172G', 'V173A', 'V173E', 'V173G', 'V173M', 'R174G', 'R174M', 'R174S', 'R174T', 'R174W', 'R175C', 'R175G', 'R175H', 'R175L', 'R175P', 'R175S', 'C176F', 'C176G', 'C176R', 'C176S', 'C176W', 'C176Y', 'P177H', 'P177L', 'P177R', 'H178D', 'H178L', 'H178N', 'H178P', 'H178Q', 'H178R', 'H178Y', 'H179D', 'H179L', 'H179N', 'H179P', 'H179Q', 'H179R', 'H179Y', 'E180D', 'E180G', 'E180K', 'E180Q', 'R181C', 'R181G', 'R181H', 'R181L', 'R181P', 'R181S', 'C182G', 'C182R', 'C182W', 'C182Y', 'S183L', 'D184E', 'D184G', 'D184H', 'D184Y', 'S185R', 'D186E', 'D186G', 'D186H', 'D186V', 'G187A', 'G187C', 'G187D', 'G187R', 'G187S', 'G187V', 'L188P', 'L188Q', 'L188V', 'A189D', 'A189G', 'A189P', 'P190A', 'P190H', 'P190L', 'P190R', 'P190S', 'P190T', 'P191A', 'P191H', 'P191L', 'P191R', 'P191S', 'Q192E', 'Q192H', 'Q192K', 'Q192L', 'Q192P', 'Q192R', 'H193D', 'H193L', 'H193N', 'H193P', 'H193Q', 'H193R', 'H193Y', 'L194H', 'L194P', 'L194R', 'L194V', 'I195F', 'I195N', 'I195S', 'R196G', 'R196L', 'R196P', 'R196Q', 'V197A', 'V197E', 'V197G', 'V197L', 'V197M', 'E198D', 'E198G', 'E198K', 'E198Q', 'G199A', 'G199E', 'G199R', 'G199V', 'N200H', 'N200I', 'N200S', 'N200Y', 'L201S', 'R202H', 'R202L', 'R202P', 'V203A', 'V203E', 'V203L', 'V203M', 'E204A', 'E204G', 'E204K', 'Y205C', 'Y205D', 'Y205H', 'Y205N', 'Y205S', 'L206S', 'L206W', 'D207A', 'D207G', 'D207H', 'D207Y', 'D208A', 'D208E', 'D208G', 'D208H', 'D208V', 'D208Y', 'R209G', 'R209I', 'R209S', 'R209T', 'T211A', 'T211I', 'T211N', 'T211P', 'T211S', 'R213G', 'R213L', 'R213P', 'R213Q', 'H214L', 'H214R', 'H214Y', 'S215C', 'S215G', 'S215I', 'S215T', 'V216A', 'V216E', 'V216G', 'V217G', 'V217L', 'V218A', 'V218E', 'V218G', 'P219A', 'P219S', 'Y220C', 'Y220D', 'Y220H', 'Y220N', 'Y220S', 'E221A', 'E221D', 'E221G', 'E221K', 'P222L', 'P222Q', 'E224A', 'E224D', 'E224G', 'E224K', 'E224Q', 'V225D', 'V225F', 'V225G', 'G226A', 'G226C', 'G226D', 'G226S', 'G226V', 'S227P', 'D228A', 'D228G', 'D228H', 'D228V', 'D228Y', 'C229G', 'C229S', 'T230A', 'T230P', 'T230S', 'T231A', 'T231I', 'T231S', 'I232F', 'I232N', 'I232S', 'I232T', 'H233D', 'H233L', 'H233P', 'H233Q', 'H233R', 'H233Y', 'Y234C', 'Y234D', 'Y234H', 'Y234N', 'Y234S', 'N235H', 'N235I', 'N235K', 'N235S', 'N235Y', 'Y236C', 'Y236D', 'Y236H', 'Y236N', 'Y236S', 'M237K', 'M237R', 'M237T', 'M237V', 'C238F', 'C238G', 'C238R', 'C238S', 'C238W', 'C238Y', 'N239H', 'N239I', 'N239K', 'N239Y', 'S240G', 'S241P', 'C242F', 'C242G', 'C242R', 'C242S', 'C242W', 'C242Y', 'M243K', 'M243R', 'M243T', 'M243V', 'G244A', 'G244C', 'G244D', 'G244R', 'G244S', 'G244V', 'G245A', 'G245C', 'G245D', 'G245R', 'G245S', 'G245V', 'M246K', 'M246R', 'M246T', 'M246V', 'N247D', 'N247I', 'N247T', 'R248G', 'R248L', 'R248P', 'R248Q', 'R249G', 'R249M', 'R249S', 'R249T', 'R249W', 'P250A', 'P250S', 'I251F', 'I251N', 'I251S', 'I251T', 'I251V', 'L252H', 'L252P', 'T253P', 'I254S', 'I255F', 'I255N', 'I255S', 'I255T', 'I255V', 'L257P', 'L257Q', 'L257R', 'E258G', 'D259E', 'D259H', 'D259V', 'D259Y', 'S260C', 'S260F', 'S260P', 'S260T', 'S260Y', 'S261G', 'G262C', 'G262D', 'G262R', 'G262S', 'G262V', 'L264R', 'L265P', 'G266E', 'G266R', 'G266V', 'R267G', 'R267L', 'R267P', 'R267Q', 'R267W', 'S269G', 'S269I', 'S269N', 'S269R', 'S269T', 'F270C', 'F270I', 'F270L', 'F270S', 'F270V', 'V272A', 'V272E', 'V272G', 'R273C', 'R273G', 'R273H', 'R273L', 'R273P', 'R273S', 'V274D', 'V274F', 'V274G', 'C275F', 'C275G', 'C275R', 'C275S', 'C275W', 'C275Y', 'A276G', 'A276P', 'A276T', 'C277F', 'C277G', 'C277R', 'C277S', 'C277W', 'C277Y', 'P278A', 'P278H', 'P278L', 'P278R', 'P278S', 'P278T', 'G279A', 'G279E', 'G279R', 'G279V', 'G279W', 'R280G', 'R280I', 'R280K', 'R280S', 'R280T', 'D281A', 'D281G', 'D281V', 'D281Y', 'R282G', 'R282L', 'R282P', 'R282Q', 'R282W', 'R283P', 'T284I', 'T284P', 'T284R', 'E285A', 'E285D', 'E285G', 'E286A', 'E286D', 'E286G', 'E287A', 'E287G', 'L289P'] - We aggregated all the variants that have at least one of the MAVISp modules with a predicted damaging effect (except for PTM.function) and retained only the ones with a Demask delta fitness >= 0.25 or <= -0.25 for a total of 2044 variants which could be of interest for further investigation: diff --git a/dot_plot/examples_v2/new_entry_examples/germline/mechanistic_indicators_out.csv b/dot_plot/examples_v2/new_entry_examples/germline/mechanistic_indicators_out_germline.csv similarity index 100% rename from dot_plot/examples_v2/new_entry_examples/germline/mechanistic_indicators_out.csv rename to dot_plot/examples_v2/new_entry_examples/germline/mechanistic_indicators_out_germline.csv diff --git a/dot_plot/examples_v2/new_entry_examples/oncogenicity/dot_plot.pdf b/dot_plot/examples_v2/new_entry_examples/oncogenicity/dot_plot.pdf index 334dda1..a796f9d 100644 Binary files a/dot_plot/examples_v2/new_entry_examples/oncogenicity/dot_plot.pdf and b/dot_plot/examples_v2/new_entry_examples/oncogenicity/dot_plot.pdf differ diff --git a/dot_plot/examples_v2/new_entry_examples/oncogenicity/log.txt b/dot_plot/examples_v2/new_entry_examples/oncogenicity/log_oncogenicity.txt similarity index 86% rename from dot_plot/examples_v2/new_entry_examples/oncogenicity/log.txt rename to dot_plot/examples_v2/new_entry_examples/oncogenicity/log_oncogenicity.txt index e8ba1fd..736e427 100644 --- a/dot_plot/examples_v2/new_entry_examples/oncogenicity/log.txt +++ b/dot_plot/examples_v2/new_entry_examples/oncogenicity/log_oncogenicity.txt @@ -46,28 +46,28 @@ Summary of the effects. - 323 variants are damaging for Functional site ['cofactor'] module See csv file for details. - No classification for Long Range-PSN available yet. - Variants with multiple effects: --- G279H, G279W, G244V, R273P, R248P, D281P, C242W -> [stability, local_interactions] --- Y163A, E204P, F113S, Y220S, I251C, Y205E, C135F, L111G, C176F, V217F, V143G, V143P, R273P, C238A, F270S, F134H, R175G, I232S, L111W, Y126G, L111D, F134Q, G245Q, G187P, Y107S, G199V, C238K, Y236R, Y205R, V143D, L206P, P151I, Y236Q, Y163Q, L111F, C135E, F113N, H179G, V197G, L194E, G245W, I251A, S94Q, R156P, K164P, V203P, Y205N, R158G, R158Y, R158N, V122P, G226V, N131V, C238Y, V203N, Y107D, F113P, G244P, Y205T, R213D, F270K, L130E, I251S, Y163K, F113C, G154S, G187I, R213S, G244T, L111C, S94F, F270D, Q136P, Y236G, S149P, I232P, L111R, S94M, S127K, Y220Q, R282H, I251H, L194G, S127R, R248P, K132W, V203W, R175E, M246Y, C238L, H178E, Y234K, Y234E, C176G, Y126D, F113D, A159K, M160W, R248I, V173P, K139P, Y236D, C238R, H168P, F270A, F134G, S94W, Y220G, Y234D, L111H, S94E, C176N, G262I, Y107N, P151Q, C176H, Y126Q, I195R, Y236P, Y163D, Y234N, P142G, M160D, Y234Q, I195W, P142H, R175D, Y103G, V203Y, I255Q, Y126A, M133R, F270V, Y107A, Y205W, G245R, P190G, V217Y, F134A, I255P, R267P, Y126S, G112P, L137G, F134V, Y205K, R213P, F134K, L130P, R249P, K132Y, S94D, G226P, L111T, Y126C, Y205Q, V218G, Y220C, C176M, M246K, M246R, H179N, M246H, L111E, H179L, I232A, V203K, Y126T, Y220D, L111P, I255E, L194C, I255H, M246W, P151H, F113I, H179A, L130D, F270T, A159D, F113G, H193W, Y126N, Y163E, P151E, H179F, L194N, I255S, R282P, I232D, L194S, G187V, R249G, V216N, F113E, Y107P, Y103P, W146D, P151K, Y234V, P151G, V197S, N235F, C135Y, Y236E, I251Q, Y163P, Y107E, V143S, V218S, C238N, A159W, Y220N, Y234C, P151W, L194A, F270R, V173G, A159R, A159H, Y236K, R158H, V272A, G245F, H179W, Y163T, C176A, F134E, G245I, A159E, G245E, R158W, F113T, G244V, V197A, L194T, V197F, C238Q, H179V, H179Y, C238H, Y126V, W146P, I251G, G154I, E180P, S127H, H179T, P278S, C176K, Y126K, Y234A, S94L, Y234P, R175H, M169P, G226T, V197Y, I255T, V143N, S96P, C176L, R282D, G245Y, I255C, G245H, Y234T, R196D, V216S, Y107K, C238G, F113R, Y236C, F134S, V272D, G245T, V216D, Y163C, W146G, Y107R, M237P, Y234S, S185P, Y220P, P278G, C176Q, F134N, F270N, R158P, C135R, F270Q, G245M, R158F, V216P, H179P, L194D, Y163N, F134R, V272G, S94N, P151Y, E286P, V203F, R110P, I255D, C135H, G245D, A159P, G226I, I251E, G245L, G262V, L111N, I255N, S127Y, V147W, C238I, V203D, Y126R, M160Y, H179Q, I232E, A159Q, F270P, G244I, I195Y, R181P, S94R, H179R, Y163R, A159F, G226A, P151R, Y107G, Y220T, Y236A, Y236N, R158E, C176Y, L194Q, G199I, G245S, H179S, I255G, L111Y, R158D, L111S, V218D, F113Q, V217K, I251N, Y126E, A138P, A159Y, C238F, Y220A, Y126L, G154P, L289P, V197P, E171P, C238W, F134D, V143A, F113A, F270E, M246N, Y205D, V217H, V197D, I255A, I251D, R213G, P151F, V218P, F270C, M246F, R267D, H193R, V197K, V217R, C238V, R282G, Y236H, V272P, R196P, V197R, C176S, N235Y, E286G, Y107T, G154T, V173S, V197N, S94H, L111A, D208G, H179M, E285P, C176W, I232G, K132F, S127Q, Y107C, H193P, V203G, Y205V, H179I, Y205A, G245A, V173D, S127I, S127W, Y205C, H179K, I195F, M246D, N131I, Y205I, Y234G, G245K, Y236I, L130G, Y220K, M160G, I251P, F270H, F134C, V218N, G245C, M160P, V272S, V147K, C135K, V217W, V197H, Y220V, G226C, C238M, V173N, G245V, Y234R, G245P, F113K, Y236T, V272N, Y236V, C176R, N239E, V216G, C176V, Y163G, Y205S, E198P, Y236S, L111Q, Y205G, M246S, C135W, R248V, G154V, C238T, G199P, F134P, Y163S, M237Y, Y126P, Y107Q, C176T, L188P, V197W, G262P, S94Y, F270G, G245N, F113V, M246G, V203H, S127P, C176I, F134T, E287P, Y205P, Y220E, V203R, L194P, N200G, S94K -> [stability, long_range] --- C238F, C141Y, C141E, C238K, C238L, C238T, C238Q, C238H, C238W, C238N, C238P, C242H, C238G, C141K, G245C, C124P, C238R, C141F, C238M, C141R, C238A, C242D, C141W, C238I, C238Y, C141G, C242Y, C242F, C238V, C141H, C242P, C141Q, C141P, C242W -> [stability, disulfide] --- C238F, C176H, L194T, V274E, C238Q, R175Y, H179V, H179Y, C238H, C238W, R175D, C176F, V274S, M246N, E180P, C176K, H179T, R175F, G245R, R175H, M246F, C238A, V274F, R175G, V274G, G245Q, C242F, C176L, C238V, C242P, G245Y, C238K, V274D, G245H, C176S, H179M, C176W, L194W, C238G, H179G, C176M, L194E, M246K, G245W, M246R, G245T, H179N, L194K, M246H, H179I, H179L, G245A, V274Q, C242D, H179K, C238Y, V274Y, V274K, L194C, M246D, C176Q, G245K, M246W, C242W, H179A, G245M, H179P, V274P, L194D, C238P, C242H, V274H, H179F, L194N, L194R, G245C, G245D, R175W, G245L, C238M, L194S, V274R, C176P, L194Y, G245V, G245P, C238I, L194G, C176R, N239E, H179Q, C176V, M246S, R175E, M246Y, C238L, H178E, C238T, R181P, C176T, S240P, C238N, C176G, H179R, L194A, G245N, M246G, G245F, H179W, C238R, C182P, C176A, C176Y, L194Q, G245S, C176I, H179S, G245I, G245E, C242Y, V274W, C176N, L194P -> [stability, functional site] --- S185P, Y126Q, Y126R, Y126G, Y126C, Y126D, Y126K, T211P, Y126E, Y126S, S149P, Y126N, Y126T, T284P, Y126A, Y126P, Y126V -> [stability, ptm] --- R273H, R248C, K120Q, G244C, H178Y, H178P, G244D, K120A, K120G, W91S, N239Y, K120H, H178L, D281A, D281G, R248L, R248G, R273P, C275K, K120P, C275T, H178Q, C275W, N239M, K120N, M243T, C275R, K120D, K120E, H178N, C275Y, H178D, D281S, G244V, G244E, R248P -> [local_interactions, long_range] --- D281C, C242W -> [local_interactions, disulfide] --- H178Q, N239M, H178P, M243T, S240Y, S240W, H178L, H178N, H178D, S240F, N239Y, H178Y, C242W -> [local_interactions, functional site] --- C238E, C238F, C238K, C238L, C238T, C124G, C238Q, H179C, C124S, C238H, C238W, C238N, C242A, V272C, C238G, C238S, C242S, W146C, G245C, C238R, K120C, C238M, C242G, Q144C, C238A, C238I, C238Y, C238V, C124A -> [long_range, disulfide] --- E180I, C238F, C176H, C182I, L194T, E180K, C238Q, M243D, R181T, R175T, E180Q, H179V, H179Y, C238H, R181N, C238W, M243K, P177E, R175D, C176F, C182N, C182A, C182G, C242S, E180T, M246N, M246A, E180Y, C182K, E180P, C176K, H179T, N239H, R181S, G245R, E180S, R175H, C182Q, M246F, M243A, C238A, R175G, N239F, R181A, M243F, G245Q, M243E, H178D, R181G, C176L, C238V, M243C, C238E, P177L, M243R, R175A, C238K, G245Y, G245H, R175P, C176S, C182S, M243Q, M246C, C182W, R175I, H179C, R181M, R181F, M246P, H179M, M243H, C176W, E180L, H178K, H179G, C176M, L194E, C238G, G245W, M246K, M246R, C182T, R181E, G245T, H179N, M243W, E180H, N239Q, R181D, M246H, P177W, C242G, H179I, H179L, C182R, H178G, C182Y, G245A, H179K, C238Y, R175C, E180C, L194C, C182E, M243Y, M246D, C176Q, G245K, M246W, R175S, H178C, P177R, R175V, E180W, H179A, G245M, N239V, E180A, P177Y, N239I, H179P, E180F, L194D, H178I, R175N, C182H, P177M, C238S, M246V, H179F, L194N, G245C, M246E, N239R, N239Y, R181W, G245D, P177Q, N239L, M243G, G245L, C238M, L194S, G245V, H178M, R181H, H178V, R181I, G245P, L194V, L194H, R181L, H178Q, C238I, R175M, H178A, C182L, M243T, C182V, C176R, L194G, N239E, M246Q, H179E, H179Q, R181C, C176V, E180M, H178R, R175Q, C182F, E180N, M246S, R175E, M246Y, C238L, H178E, C238T, H178S, R175L, R181Y, R181P, N239K, M243V, M243N, C176T, H178Y, C238N, P177K, C242A, C176G, H178P, H179R, L194A, G245N, P177V, C176E, H178W, C182M, M246G, E180D, P177I, H179W, C238R, G245F, C176A, H178T, C176Y, R181V, H178L, H179D, L194Q, N239W, G245S, C176I, H179S, E180G, G245I, E180R, S240G, G245E, P177F, N239M, M243S, M243P, C176N, H178F, H178N, P177H, R181Q, L194P, M246T -> [long_range, functional site] --- T150C, Y126Q, S185D, S185N, S215G, S149W, S183G, S149Y, S185F, T211G, T211W, Y126V, S149F, S99E, T150I, S185K, S149E, Y126A, S106G, S185I, Y126K, T150W, S99K, S183N, T211C, S185T, S185W, Y126G, T211F, Y126S, S183P, S149L, T211V, S149H, T150H, T150E, T211S, T211R, S185M, Y126C, T150F, S99W, S99N, S185L, S185H, T211Y, S183D, S183R, S185C, S149D, S149M, S99P, S99D, Y126T, S99M, T150Y, S185Y, T211M, S185P, S149Q, T211K, S149I, T150K, S269G, S99G, S183T, S149V, S183L, S99L, S99C, Y220L, T150V, S99H, Y126N, T150G, T211H, T150S, Y220M, S99R, S149T, T150L, S149P, S99V, T150A, Y126R, T211L, S183E, T150Q, S149N, Y126H, S183V, S99I, T211A, S183F, Y126P, S183H, S185E, T150M, S185R, S183M, T211E, Y126D, S185V, S183I, T211Q, S149C, S149K, S185G, S183Y, S99Q, S183C, T211I, S185Q, T150R, Y126E, S183W, S99F, S183Q, S183K, S149R -> [long_range, ptm] --- C238E, C238F, C242V, C238K, C242I, C238L, C238T, C238Q, C242E, H179C, C238H, C238W, C242N, C238N, C242A, C238D, C242K, C238P, C242L, C242Q, C242R, C242H, C238G, C238S, C242S, G245C, C238R, C238M, C242G, C242T, C238A, C242D, C238I, C238Y, C242Y, C242M, C242F, C238V, C242P, C242W -> [disulfide, functional site] --- R273P, R248P, G244V -> [stability, local_interactions, long_range] +-- R248P, C242W, G279H, R273P, D281P, G244V, G279W -> [stability, local_interactions] +-- H179P, V217Y, I195R, V197P, K132F, I255D, V203P, G245N, L194A, Y103G, L194G, F270N, A159Y, G244P, Y236H, V203G, F270K, S94F, E204P, L111G, G199P, G244I, Y163D, M246K, G245A, G245W, H179Y, K132Y, F113P, F134P, P151E, A159P, R175E, W146D, F134N, P142H, G245H, V272G, Y236D, C176V, Y163G, Y205Q, Y220D, P151W, M246H, N239E, L111Q, L111N, V143G, V218D, I251P, R158G, F134Q, R282G, R249P, V197A, Y220V, N235F, C238T, H193P, M237Y, Y220N, R158P, F134K, L194T, V203R, R248I, G245C, H178E, Y107R, M160P, Y107Q, C238R, Y236T, Y205W, C238V, G245S, Y126D, G226I, I251A, Y234N, G245M, M160G, Y126R, G154V, V173S, G187I, G245E, C176H, H179N, F270G, M160W, C135H, Y220P, F113V, M246R, P278S, M246F, A159F, G262P, H179L, H193R, Y220K, Y205S, Y205D, Y103P, Y205E, G244V, C176W, H179W, Y234R, Y234Q, S94D, G226A, Y234V, L130D, V197W, S185P, C176I, M246G, V147W, C135Y, H179M, C238W, Y236N, K132W, I255T, Y234A, S127Q, C238K, R158E, E285P, L111D, R282H, Y126E, Y236K, I251C, S127P, Y163T, Y126S, Y107S, C135E, M246N, A159W, Y205G, Y126N, Y163K, V216N, P278G, G245Q, V197D, V197R, F134G, P151G, R158H, V197G, I232D, E180P, P151Y, V203H, E198P, Y126Q, N200G, V122P, V218S, G245L, V203F, H179I, H168P, F113A, I255G, C238I, I251N, C176F, V203K, R248V, S127Y, K164P, I195Y, F270D, C238A, Y236P, R156P, Y236A, S96P, P151I, P151Q, C238L, Y163P, R213S, Y107T, F134R, F270C, Y107A, F134T, V218P, G226P, V272P, G245K, I255S, Y205V, C135W, A159D, A159K, A138P, Y205T, I232S, C135F, M169P, G154S, L194C, L111F, L188P, Y234G, Y107P, Y220Q, L111W, Y205I, Y234P, Y234S, Y107N, C135K, C176A, L194N, I195W, M246S, M160Y, R158F, I255E, V216P, F270E, I255P, C176G, V197K, Y205P, G262I, H193W, Y126T, S127W, L194E, G154P, Y220T, S94E, C238H, C176R, G262V, G245I, L137G, L111S, H179F, H179A, I251S, Y220C, C238Q, I232P, S149P, G226C, R213G, Y163R, M133R, M237P, V143N, F134H, S94K, I232E, Y220S, H179K, V173N, Y126P, V217F, M160D, Y163S, L111C, C238Y, F113K, S94Y, Y205K, G245V, Y236C, R158W, L130E, Y236V, V272D, G154I, L111E, E171P, C176L, S94H, A159H, W146P, N131V, C176N, V197Y, I251D, Y234K, I251E, Y126G, C176M, C176Q, D208G, R181P, Y234E, V173P, V173G, S127K, L206P, C176S, R110P, F113Q, C238M, G245Y, V197N, Y163C, G154T, Y234D, V218G, V218N, V272N, G244T, C176T, F270V, V197F, H179T, P142G, R248P, Y205N, F113E, G199I, S94M, C176Y, V217R, C238N, H179R, Y163N, R175H, G187P, F270A, V216G, N131I, G226T, Y234C, G245T, L194Q, W146G, I255A, N235Y, F134A, C135R, R158Y, Y107D, Y107K, V203N, Y220E, S94W, R213D, Y205A, F134E, V216D, R213P, F270P, V272A, I255C, S94N, F113R, G199V, F134V, P151R, Y126V, R175G, Y236Q, P151F, E286G, R196P, F270R, I195F, I232A, H179G, V203Y, R158D, F134S, F113D, F270T, I251Q, V197H, P151H, P190G, G226V, L194D, Y107C, V143A, V143P, I255H, L194S, V197S, V143D, R267P, L111T, L111H, V272S, F113S, P151K, I251G, Y234T, C176K, H179V, I232G, E286P, V203D, F270H, G187V, R267D, V217W, R249G, Y205R, Y163E, Y107G, V217H, I255N, F134C, Y236R, S127R, L289P, L194P, Y126L, S94R, Y126A, S94Q, L111P, V143S, F113G, Y236G, L111Y, I251H, Y163Q, L130G, R196D, V203W, R158N, V216S, G245P, R282D, R273P, Y220G, A159E, S127I, Y236E, M246W, Y126K, S127H, K139P, F134D, F270S, E287P, H179Q, L111A, L111R, G112P, Y236S, C238G, R175D, F270Q, L130P, S94L, R282P, Y107E, M246D, A159Q, V217K, A159R, G245R, H179S, F113I, G245F, F113T, Y220A, I255Q, V173D, Y236I, V147K, Y205C, Y126C, M246Y, C238F, Y163A, F113C, F113N, G245D, Q136P -> [stability, long_range] +-- C238Y, C141Q, C238W, C242D, C238M, C141K, C141W, C242Y, C238A, C141E, C238K, C238T, C141R, C238H, C238G, C238L, C124P, C242P, C141F, C238Q, G245C, C141G, C141P, C242H, C141Y, C242F, C242W, C238F, C238R, C141H, C238V, C238I, C238N, C238P -> [stability, disulfide] +-- H179P, M246G, H179M, C238W, L194E, C242D, C238K, C238H, R175G, G245N, L194Y, C176R, L194A, L194G, G245I, C242P, H179F, H179G, H179A, C238Q, V274F, V274S, V274D, V274W, M246N, H179K, L194D, R175Y, M246K, G245A, G245W, H179Y, L194S, C238Y, R175E, G245V, C176K, C242Y, R175F, G245H, G245Q, C182P, H179V, C176V, C176L, E180P, C176N, R175W, G245L, M246H, H179I, C176M, L194P, C176Q, N239E, R181P, C238I, C176F, C238P, C176S, C238M, G245Y, C238A, C238T, L194R, C238L, L194T, G245P, V274E, G245C, C176T, G245K, M246W, H178E, C242H, H179T, V274H, C238R, C176Y, C238V, G245S, H179Q, C238N, H179R, R175H, S240P, G245M, V274G, L194C, L194W, G245E, C176H, G245T, H179N, L194Q, C238G, R175D, M246R, V274R, M246D, C176A, L194N, V274P, M246F, G245R, V274Q, V274Y, H179L, H179S, G245F, C176P, M246S, L194K, C176W, H179W, C242F, C242W, M246Y, C238F, C176G, G245D, V274K, C176I -> [stability, functional site] +-- Y126T, Y126Q, Y126C, Y126G, T211P, Y126R, Y126K, S149P, Y126A, Y126P, Y126S, Y126D, Y126N, Y126E, Y126V, S185P, T284P -> [stability, ptm] +-- D281A, K120G, C275W, R248G, R248L, M243T, H178Y, K120D, C275R, R273H, H178L, D281S, C275T, R273P, D281G, G244E, C275K, N239M, G244D, H178P, K120N, K120Q, K120A, C275Y, H178N, G244V, R248P, W91S, K120E, N239Y, K120P, H178Q, K120H, H178D, R248C, G244C -> [local_interactions, long_range] +-- C242W, D281C -> [local_interactions, disulfide] +-- H178L, C242W, N239Y, N239M, H178P, S240Y, H178Q, S240F, H178D, S240W, M243T, H178Y, H178N -> [local_interactions, functional site] +-- C238Y, C238W, C238M, C238A, C238K, C238T, C242A, C238H, C238G, C242S, C238E, C238L, C124A, C238Q, G245C, C124G, C242G, W146C, C238F, C238R, V272C, K120C, Q144C, C238S, C238I, C124S, C238V, C238N, H179C -> [long_range, disulfide] +-- N239Q, C182E, H179P, M246G, H179M, C238W, P177L, M243H, L194E, E180F, C182I, R175V, H178F, C238K, C238H, R175G, N239F, C242S, G245N, R181V, C176R, R181S, H179D, C238E, M243F, L194A, P177K, M243R, E180N, L194G, P177W, G245I, R181N, H179F, R175T, H178R, H179G, H179A, E180Q, C238Q, N239R, C182G, M243K, R175S, M246T, H178V, E180M, H179E, H178N, P177V, C182H, E180G, M243Y, M246N, P177F, C176E, H179K, L194D, M243W, R181T, H178G, M246K, H178D, G245A, R175L, H179Y, G245W, L194S, R181Q, C238Y, C182A, R175E, C182Y, R175P, G245V, C176K, H178Y, G245H, G245Q, N239L, H179V, E180C, M243S, M246A, S240G, C176V, N239K, C176L, P177M, P177H, E180P, M243C, M246C, C176N, H178T, R181D, R175C, M243N, M243D, R175N, G245L, M246H, E180A, R181G, H179I, L194V, C176M, L194P, C176Q, E180D, N239E, M246Q, R181P, C238I, R175Q, C176F, H179C, R181F, M243E, C176S, P177R, C182M, M246V, C238M, H178S, M243Q, G245Y, C182W, C238A, M243T, R181W, C238T, R181E, C182F, N239I, C238L, L194T, G245P, C182L, C182R, G245C, C176T, R181C, G245K, H178E, H178K, H178P, C182V, M246W, C182N, R181A, H179T, P177I, N239Y, C238R, C176Y, E180W, C238V, M243A, G245S, H179Q, C238N, R175M, P177Q, H179R, E180Y, R175H, L194H, R181M, G245M, M246P, P177E, E180T, L194C, G245E, H178I, H178W, C176H, H178C, E180H, R181H, H179N, E180L, L194Q, C242A, M243P, M243V, G245T, H178A, C238G, C182K, R175D, M246R, H178L, M246D, C182T, R175A, C176A, L194N, M246F, G245R, E180K, H179L, E180I, E180R, N239V, H179S, C182Q, E180S, G245F, M246S, N239M, N239H, P177Y, C242G, R181Y, R175I, H178M, M243G, M246E, C176W, H179W, R181L, M246Y, C182S, C176G, C238F, H178Q, C238S, G245D, R181I, N239W, C176I -> [long_range, functional site] +-- T150Q, Y126T, S99D, S149D, Y126V, S185Q, S185G, T211M, S185E, S185I, S185H, T211G, S149H, S99Q, Y126E, S183G, T211R, T211K, S183K, S183E, S149P, S106G, Y126H, Y126S, S149Y, S183Q, T150G, S149E, T150S, Y126P, T211V, Y126N, T150W, S149N, S183M, T211F, S183D, S149F, S183F, S99V, S149L, S183Y, S185R, S183P, Y126Q, S185F, S149V, T211Q, S99K, Y126G, S149I, S99G, S99H, Y126A, T150L, T150C, S149M, S185M, S99R, S149W, T150V, S183H, S183V, T211H, T150M, S149K, S99L, S269G, S99W, S183W, S185L, T211W, S149T, S185Y, Y126K, Y220L, S99F, T150H, T211Y, S185C, S183L, T150Y, S183I, S185W, S99E, S215G, S183C, Y126D, S185V, T150E, Y220M, S185N, S99M, S149Q, Y126R, T150A, T150K, S185T, S99I, T150I, S183T, S185D, T211C, T150R, T150F, S185K, S99P, S99N, T211A, S149C, T211S, S183N, Y126C, T211I, S99C, T211E, S183R, T211L, S149R, S185P -> [long_range, ptm] +-- C238Y, C242V, C238W, C242D, C238D, C238M, C242E, C242Y, C238A, C238K, C238T, C242A, C238H, C238G, C242S, C242R, C242K, C238E, C238L, C242P, H179C, C242I, C238Q, G245C, C242T, C242G, C242L, C242H, C242Q, C242F, C242W, C238F, C238R, C238S, C238I, C238V, C242N, C238N, C242M, C238P -> [disulfide, functional site] +-- R248P, G244V, R273P -> [stability, local_interactions, long_range] -- C242W -> [stability, local_interactions, disulfide] --- C238F, C238N, C238I, C238K, C238R, C238L, C238T, C238Y, C238M, C238Q, C238G, C238V, G245C, C238H, C238A, C238W -> [stability, long_range, disulfide] --- C238F, C176H, L194T, C238Q, H179V, H179Y, C238H, C238W, R175D, C176F, M246N, E180P, C176K, H179T, G245R, R175H, M246F, C238A, R175G, G245Q, C176L, C238V, G245Y, C238K, G245H, C176S, H179M, C176W, C238G, H179G, C176M, L194E, M246K, G245W, M246R, G245T, H179N, M246H, H179I, H179L, G245A, H179K, C238Y, L194C, M246D, C176Q, G245K, M246W, H179A, G245M, H179P, L194D, H179F, L194N, G245C, G245D, G245L, C238M, L194S, G245V, G245P, C238I, L194G, C176R, N239E, H179Q, C176V, M246S, R175E, M246Y, C238L, H178E, C238T, R181P, C176T, C238N, C176G, H179R, L194A, G245N, M246G, G245F, H179W, C238R, C176A, C176Y, L194Q, G245S, C176I, H179S, G245I, G245E, C176N, L194P -> [stability, long_range, functional site] --- S185P, Y126Q, Y126R, Y126G, Y126C, Y126D, Y126K, Y126E, Y126S, S149P, Y126N, Y126T, Y126A, Y126P, Y126V -> [stability, long_range, ptm] --- C238F, C238K, C238L, C238T, C238Q, C238H, C238W, C238N, C238P, C242H, C238G, G245C, C238R, C238M, C238A, C242D, C238I, C238Y, C242Y, C242F, C238V, C242P, C242W -> [stability, disulfide, functional site] --- H178Q, N239M, H178P, M243T, H178L, H178N, H178D, N239Y, H178Y -> [local_interactions, long_range, functional site] +-- C238Y, C238G, C238W, C238Q, G245C, C238F, C238R, C238L, C238M, C238N, C238V, C238I, C238A, C238K, C238T, C238H -> [stability, long_range, disulfide] +-- H179P, M246G, H179M, C238W, L194E, C238K, C238H, R175G, G245N, C176R, L194A, L194G, G245I, H179F, H179G, H179A, C238Q, M246N, H179K, L194D, M246K, G245A, G245W, H179Y, L194S, C238Y, R175E, G245V, C176K, G245H, G245Q, H179V, C176V, C176L, E180P, C176N, G245L, M246H, H179I, C176M, L194P, C176Q, N239E, R181P, C238I, C176F, C176S, C238M, G245Y, C238A, C238T, C238L, L194T, G245P, G245C, C176T, G245K, M246W, H178E, H179T, C238R, C176Y, C238V, G245S, H179Q, C238N, H179R, R175H, G245M, L194C, G245E, C176H, G245T, H179N, L194Q, C238G, R175D, M246R, M246D, C176A, L194N, M246F, G245R, H179L, H179S, G245F, M246S, C176W, H179W, M246Y, C238F, C176G, G245D, C176I -> [stability, long_range, functional site] +-- Y126T, Y126Q, Y126C, Y126G, Y126R, Y126K, S149P, Y126A, Y126P, Y126S, Y126D, Y126N, Y126E, Y126V, S185P -> [stability, long_range, ptm] +-- C238Y, C238W, C242D, C238M, C242Y, C238A, C238K, C238T, C238H, C238G, C238L, C242P, C238Q, G245C, C242H, C242F, C242W, C238F, C238R, C238V, C238I, C238N, C238P -> [stability, disulfide, functional site] +-- H178L, N239Y, N239M, H178P, H178Q, H178D, M243T, H178Y, H178N -> [local_interactions, long_range, functional site] -- C242W -> [local_interactions, disulfide, functional site] --- C238E, C238F, C238K, C238L, C238T, C238Q, H179C, C238H, C238W, C238N, C242A, C238G, C238S, C242S, G245C, C238R, C238M, C242G, C238A, C238I, C238Y, C238V -> [long_range, disulfide, functional site] --- C238F, C238N, C238I, C238K, C238R, C238L, C238T, C238Y, C238M, C238Q, C238G, C238V, G245C, C238H, C238A, C238W -> [stability, long_range, disulfide, functional site] +-- C238Y, C238W, C238M, C238A, C238K, C238T, C242A, C238H, C238G, C242S, C238E, C238L, C238Q, G245C, C242G, C238F, C238R, C238S, C238I, C238V, C238N, H179C -> [long_range, disulfide, functional site] +-- C238Y, C238G, C238W, C238Q, G245C, C238F, C238R, C238L, C238M, C238N, C238V, C238I, C238A, C238K, C238T, C238H -> [stability, long_range, disulfide, functional site] - We aggregated all the variants that have at least one of the MAVISp modules with a predicted damaging effect (except for PTM.function) and retained only the ones with a REVEL score higher than 0.5 for a total of 687 variants which could be of interest for further investigation: -- ['W91R', 'P92A', 'P92S', 'L93V', 'S94L', 'S94P', 'S94T', 'S95F', 'S95T', 'S96P', 'S96Y', 'V97A', 'V97D', 'V97F', 'V97I', 'V97L', 'P98A', 'P98H', 'P98L', 'P98R', 'P98S', 'S99C', 'S99F', 'S99P', 'K101E', 'T102I', 'Y103C', 'Y103H', 'Y103N', 'Y103S', 'G105A', 'G105C', 'G105D', 'G105R', 'G105S', 'G105V', 'S106R', 'Y107C', 'Y107D', 'Y107H', 'Y107N', 'Y107S', 'G108C', 'G108D', 'G108S', 'G108V', 'F109C', 'F109I', 'F109S', 'F109V', 'R110G', 'R110H', 'R110L', 'R110P', 'R110S', 'L111P', 'L111Q', 'L111R', 'F113C', 'F113L', 'F113S', 'L114V', 'H115Y', 'S116C', 'S116F', 'G117A', 'G117E', 'G117R', 'G117V', 'G117W', 'T118A', 'A119G', 'K120E', 'K120M', 'K120N', 'K120Q', 'K120T', 'S121F', 'V122A', 'V122L', 'V122M', 'T123I', 'T123S', 'C124F', 'C124G', 'C124R', 'C124S', 'C124W', 'C124Y', 'T125A', 'T125K', 'T125M', 'T125P', 'T125R', 'T125S', 'Y126C', 'Y126D', 'Y126H', 'Y126N', 'Y126S', 'S127C', 'S127F', 'S127P', 'S127T', 'S127Y', 'P128L', 'P128R', 'P128S', 'A129D', 'L130F', 'L130H', 'L130P', 'L130R', 'L130V', 'N131H', 'N131I', 'N131K', 'N131S', 'N131Y', 'K132E', 'M133K', 'M133R', 'F134C', 'F134I', 'F134L', 'F134S', 'F134V', 'C135F', 'C135G', 'C135R', 'C135S', 'C135W', 'C135Y', 'Q136E', 'Q136H', 'Q136K', 'Q136L', 'Q136P', 'Q136R', 'L137P', 'L137Q', 'L137V', 'A138D', 'A138P', 'A138T', 'A138V', 'K139E', 'K139N', 'K139Q', 'K139T', 'T140A', 'T140I', 'T140S', 'C141F', 'C141G', 'C141R', 'C141S', 'C141W', 'C141Y', 'P142A', 'P142H', 'P142L', 'P142R', 'P142S', 'V143A', 'V143E', 'V143G', 'Q144H', 'Q144K', 'Q144L', 'Q144P', 'Q144R', 'L145P', 'L145R', 'W146C', 'W146G', 'W146S', 'V147F', 'V147G', 'V147I', 'D148V', 'D148Y', 'S149P', 'P151A', 'P151H', 'P151L', 'P151R', 'P151S', 'P152A', 'P152S', 'G154A', 'G154C', 'G154D', 'G154R', 'G154S', 'G154V', 'T155I', 'T155N', 'T155P', 'R156G', 'R156H', 'R156L', 'R156P', 'R156S', 'V157A', 'V157D', 'V157F', 'V157G', 'R158C', 'R158G', 'R158H', 'R158L', 'R158P', 'R158S', 'A159D', 'A159P', 'A159T', 'A159V', 'M160K', 'M160R', 'M160T', 'M160V', 'I162F', 'I162N', 'I162S', 'Y163C', 'Y163D', 'Y163H', 'Y163N', 'Y163S', 'K164E', 'K164M', 'K164N', 'K164Q', 'K164T', 'Q165E', 'Q165P', 'S166L', 'S166P', 'S166T', 'Q167H', 'Q167K', 'Q167L', 'Q167P', 'Q167R', 'H168D', 'H168L', 'H168N', 'H168P', 'H168Q', 'H168R', 'H168Y', 'M169T', 'M169V', 'T170A', 'T170K', 'T170M', 'T170R', 'T170S', 'E171A', 'E171D', 'E171G', 'V172A', 'V172D', 'V172F', 'V172G', 'V173A', 'V173E', 'V173G', 'V173M', 'R174G', 'R174M', 'R174S', 'R174T', 'R174W', 'R175C', 'R175G', 'R175H', 'R175L', 'R175P', 'R175S', 'C176F', 'C176G', 'C176R', 'C176S', 'C176W', 'C176Y', 'P177H', 'P177L', 'P177R', 'H178D', 'H178L', 'H178N', 'H178P', 'H178Q', 'H178R', 'H178Y', 'H179D', 'H179L', 'H179N', 'H179P', 'H179Q', 'H179R', 'H179Y', 'E180D', 'E180G', 'E180K', 'E180Q', 'R181C', 'R181G', 'R181H', 'R181L', 'R181P', 'R181S', 'C182G', 'C182R', 'C182W', 'C182Y', 'S183L', 'D184E', 'D184G', 'D184H', 'D184Y', 'S185R', 'D186E', 'D186G', 'D186H', 'D186V', 'G187A', 'G187C', 'G187D', 'G187R', 'G187S', 'G187V', 'L188P', 'L188Q', 'L188V', 'A189D', 'A189G', 'A189P', 'P190A', 'P190H', 'P190L', 'P190R', 'P190S', 'P190T', 'P191A', 'P191H', 'P191L', 'P191R', 'P191S', 'Q192E', 'Q192H', 'Q192K', 'Q192L', 'Q192P', 'Q192R', 'H193D', 'H193L', 'H193N', 'H193P', 'H193Q', 'H193R', 'H193Y', 'L194H', 'L194P', 'L194R', 'L194V', 'I195F', 'I195N', 'I195S', 'R196G', 'R196L', 'R196P', 'R196Q', 'V197A', 'V197E', 'V197G', 'V197L', 'V197M', 'E198D', 'E198G', 'E198K', 'E198Q', 'G199A', 'G199E', 'G199R', 'G199V', 'N200H', 'N200I', 'N200S', 'N200Y', 'L201S', 'R202H', 'R202L', 'R202P', 'V203A', 'V203E', 'V203L', 'V203M', 'E204A', 'E204G', 'E204K', 'Y205C', 'Y205D', 'Y205H', 'Y205N', 'Y205S', 'L206S', 'L206W', 'D207A', 'D207G', 'D207H', 'D207Y', 'D208A', 'D208E', 'D208G', 'D208H', 'D208V', 'D208Y', 'R209G', 'R209I', 'R209S', 'R209T', 'T211A', 'T211I', 'T211N', 'T211P', 'T211S', 'R213G', 'R213L', 'R213P', 'R213Q', 'H214L', 'H214R', 'H214Y', 'S215C', 'S215G', 'S215I', 'S215T', 'V216A', 'V216E', 'V216G', 'V217G', 'V217L', 'V218A', 'V218E', 'V218G', 'P219A', 'P219S', 'Y220C', 'Y220D', 'Y220H', 'Y220N', 'Y220S', 'E221A', 'E221D', 'E221G', 'E221K', 'P222L', 'P222Q', 'E224A', 'E224D', 'E224G', 'E224K', 'E224Q', 'V225D', 'V225F', 'V225G', 'G226A', 'G226C', 'G226D', 'G226S', 'G226V', 'S227P', 'D228A', 'D228G', 'D228H', 'D228V', 'D228Y', 'C229G', 'C229S', 'T230A', 'T230P', 'T230S', 'T231A', 'T231I', 'T231S', 'I232F', 'I232N', 'I232S', 'I232T', 'H233D', 'H233L', 'H233P', 'H233Q', 'H233R', 'H233Y', 'Y234C', 'Y234D', 'Y234H', 'Y234N', 'Y234S', 'N235H', 'N235I', 'N235K', 'N235S', 'N235Y', 'Y236C', 'Y236D', 'Y236H', 'Y236N', 'Y236S', 'M237K', 'M237R', 'M237T', 'M237V', 'C238F', 'C238G', 'C238R', 'C238S', 'C238W', 'C238Y', 'N239H', 'N239I', 'N239K', 'N239Y', 'S240G', 'S241P', 'C242F', 'C242G', 'C242R', 'C242S', 'C242W', 'C242Y', 'M243K', 'M243R', 'M243T', 'M243V', 'G244A', 'G244C', 'G244D', 'G244R', 'G244S', 'G244V', 'G245A', 'G245C', 'G245D', 'G245R', 'G245S', 'G245V', 'M246K', 'M246R', 'M246T', 'M246V', 'N247D', 'N247I', 'N247T', 'R248G', 'R248L', 'R248P', 'R248Q', 'R249G', 'R249M', 'R249S', 'R249T', 'R249W', 'P250A', 'P250S', 'I251F', 'I251N', 'I251S', 'I251T', 'I251V', 'L252H', 'L252P', 'T253P', 'I254S', 'I255F', 'I255N', 'I255S', 'I255T', 'I255V', 'L257P', 'L257Q', 'L257R', 'E258G', 'D259E', 'D259H', 'D259V', 'D259Y', 'S260C', 'S260F', 'S260P', 'S260T', 'S260Y', 'S261G', 'G262C', 'G262D', 'G262R', 'G262S', 'G262V', 'L264R', 'L265P', 'G266E', 'G266R', 'G266V', 'R267G', 'R267L', 'R267P', 'R267Q', 'R267W', 'S269G', 'S269I', 'S269N', 'S269R', 'S269T', 'F270C', 'F270I', 'F270L', 'F270S', 'F270V', 'V272A', 'V272E', 'V272G', 'R273C', 'R273G', 'R273H', 'R273L', 'R273P', 'R273S', 'V274D', 'V274F', 'V274G', 'C275F', 'C275G', 'C275R', 'C275S', 'C275W', 'C275Y', 'A276G', 'A276P', 'A276T', 'C277F', 'C277G', 'C277R', 'C277S', 'C277W', 'C277Y', 'P278A', 'P278H', 'P278L', 'P278R', 'P278S', 'P278T', 'G279A', 'G279E', 'G279R', 'G279V', 'G279W', 'R280G', 'R280I', 'R280K', 'R280S', 'R280T', 'D281A', 'D281G', 'D281V', 'D281Y', 'R282G', 'R282L', 'R282P', 'R282Q', 'R282W', 'R283P', 'T284I', 'T284P', 'T284R', 'E285A', 'E285D', 'E285G', 'E286A', 'E286D', 'E286G', 'E287A', 'E287G', 'L289P'] - We aggregated all the variants that have at least one of the MAVISp modules with a predicted damaging effect (except for PTM.function) and retained only the ones with a Demask delta fitness >= 0.25 or <= -0.25 for a total of 2044 variants which could be of interest for further investigation: diff --git a/dot_plot/examples_v2/new_entry_examples/oncogenicity/mechanistic_indicators_out.csv b/dot_plot/examples_v2/new_entry_examples/oncogenicity/mechanistic_indicators_out_oncogenicity.csv similarity index 100% rename from dot_plot/examples_v2/new_entry_examples/oncogenicity/mechanistic_indicators_out.csv rename to dot_plot/examples_v2/new_entry_examples/oncogenicity/mechanistic_indicators_out_oncogenicity.csv diff --git a/dot_plot/examples_v2/simple_mode/dot_plot.pdf b/dot_plot/examples_v2/simple_mode/dot_plot.pdf index 0b62e3a..f5852f3 100644 Binary files a/dot_plot/examples_v2/simple_mode/dot_plot.pdf and b/dot_plot/examples_v2/simple_mode/dot_plot.pdf differ diff --git a/dot_plot/examples_v2/simple_mode/log.txt b/dot_plot/examples_v2/simple_mode/log_aggregated.txt similarity index 93% rename from dot_plot/examples_v2/simple_mode/log.txt rename to dot_plot/examples_v2/simple_mode/log_aggregated.txt index 50f8e85..b506c59 100644 --- a/dot_plot/examples_v2/simple_mode/log.txt +++ b/dot_plot/examples_v2/simple_mode/log_aggregated.txt @@ -44,11 +44,11 @@ Summary of the effects. - 19 variants are damaging for Functional site ['active site'] module See csv file for details. - No classification for Long Range-PSN available yet. - Variants with multiple effects: --- F368E, G492P, P485M, V462P, Y545G, L262S, L262C, W211A, F386A, Y545Q, W437I, Y539E, S486H, G579K, F368S, S250P, I172G, Y442D, T488W, Y315E, Y545D, G218P, W246G, Y369T, L595W, L256S, Y448D, W354C, R591Y, H284P, W342N, F368C, H459W, F386G, L612H, F465D, F468D, T488M, P485Q, Y369H, Y344E, G218V, S509P, W437C, W437D, G492I, Y539R, I334G, W535S, E449P, H288P, L538N, W535R, Y448I, L394H, F468H, Y448R, L608D, W407C, Y448A, Y441K, W407R, G458E, L263S, K189P, W535P, F465T, L547T, L343T, W354V, L262G, C252W, I334P, D463W, G458F, G579D, C252R, L266S, L216P, Y315A, G458L, W211P, L263A, F386K, L263C, A243V, W354G, P330G, Q598W, L478D, F386C, Y539D, V512P, G458Q, W555K, S509N, Y344N, Y545N, L478E, F272G, S509H, W407H, D400S, L394D, P485E, Y315T, T488R, W393S, V318D, L263D, C252H, D463K, W535Q, F329P, F368N, F465C, P552G, W246T, G458V, Y315C, F457R, W393C, V318G, L343H, L309G, L262P, R476G, P401G, K578W, L343P, L343S, Q404P, Y442P, L394P, W211K, Y506D, F386E, Y441E, F468P, W354D, F386Q, G458K, L595Y, I178S, A243K, G579H, L343C, K307P, C252F, W393Q, W176P, Y442C, W354T, W535C, P485H, Y441C, Y369G, F468G, G458Y, H461I, Y369E, Y506A, S509W, L266G, Y369I, W407T, S486Q, M384E, M384D, R364P, A243W, F173I, Y448E, D463F, M274P, W176T, W176Q, T489H, Y441V, Y215D, D463Y, Y442K, F457K, A243Y, Y315D, Y315R, A243D, F457C, F468E, L262E, G218I, Y545P, F457T, W555T, W176H, F368I, C252E, L538D, Y215K, L262A, A243N, W354K, Y369K, F386T, R306P, V318S, R443P, Y374D, F368G, R231P, F386R, L547G, F272Q, W354A, T488K, W393G, G579V, S486D, H556P, L612E, Y369A, Y215G, F465R, L309S, G579Q, F272N, F272C, V286P, W393A, A243Q, A243P, Y545V, Y344G, F468T, R476P, R563P, L262H, Y545E, G458W, L612D, W393P, F329R, F368D, Y369D, W535D, L343G, Y539S, F468S, S509Y, Y442R, S509R, W211H, Y215P, R447P, A243L, L608G, S509K, W393D, G458M, T489W, W393T, I172D, L309P, L538W, W393E, L266N, F368K, D515H, Y506K, I365P, L371G, P485F, F465S, C252Y, L343A, W407N, S600P, Y369Q, W437K, W555C, T488E, Y539N, W407S, C252K, F386S, Y506Q, L612S, L263P, W437V, W535I, W555Q, Y506T, Y215E, Y215R, I172H, F368R, W211G, Y448Q, F329G, P221E, A243R, L538A, T489K, F368T, T488Y, A243M, Y344D, F468C, T489R, W176N, Y506H, Y448G, F465Q, Y539K, L309A, L538T, W437R, W555D, F272S, Y539V, F465A, T488L, F308D, W342C, L547S, T488H, W407D, L612G, Y215Q, L547A, L256G, S509F, F272P, F173T, W354R, L478G, V312P, Y441R, L568P, W176L, Y315G, W535N, L371E, Y506G, L395P, F272A, F272H, Y539P, S509D, F465E, L266P, W246E, W535V, W211R, S486F, W211E, Y441I, F468N, W407G, F173P, G492V, Y215S, Y344R, L394G, F272T, W535G, L227P, L180S, T488I, F457E, F329T, F272D, P581V, D463R, W176E, Y315P, W555R, Y448N, G579E, G458T, L538C, Y506P, Y441T, W407Q, I178D, Y539T, A243I, H459I, L547P, W354I, P429G, L538Y, E248P, G458D, F386P, Y315N, F386N, E517P, W535T, Y369S, Y539A, F386I, W342R, Y545S, W246I, F368Q, S261P, Y545T, S486Y, F465N, F368H, Y369C, Y442E, L309D, W535L, F329A, F329S, W437E, G458I, L595R, L343N, Y448S, F468R, L547N, W211T, T488F, F272K, P485R, S509E, Y506N, W246V, F457I, F329Q, Y545A, L227N, F457A, Y441D, S486L, L266H, F465G, L394E, A243F, F386D, Y506I, L538G, W555N, G579I, Y506E, L538P, Y441P, Y448C, W437G, W437H, W393R, L343D, W176V, F465K, W407E, L263G, F457V, F368A, Y369N, W555P, R447G, W211Q, W535A, W439P, G458N, S486R, L227H, W211N, W437A, W407P, P485K, D463Q, L266D, Y448T, G579P, Y441Q, W354E, S486E, Q404G, G579R, W407A, Y344Q, F457P, W211S, G508P, G579Y, L262T, F457N, W437N, L514P, Y441S, W535E, Y539Q, G579F, P430G, A243H, L547D, L547E, D463H, Y441A, L227D, W437T, F468Q, F457D, L262N, I178P, F457Q, L478P, L227G, T489E, W176G, Y442G, Y539C, F329K, Y539I, S250I, L478S, W437L, L371D, W342S, N383S, Y315S, F308P, F368V, Y369P, W211D, W342T, G508I, Y315Q, F457S, L612P, Y374P, S486K, Y539G, K578Y, W555A, Y441G, W437Q, G458P, W246P, I178Q, L180G, W555V, P485Y, W437S, F272R, L266E, W555S, L262D, R602D, S509L, W354P, F465P, L263N, I334S, A243E, L266A, S486V, G458C, Q404D, Y545C, A128P, Y506V, L309E, W555E, Y344C, W437P, G508V, W342H, Y441N, S475P, Y344P, W393N, W555G, H580P, Y369V, Y448P, F457G, M384S, W407V, L395G, W354S, I178H, L612N, L434P, W354N, T489F, Y506C, F386V, W176D, S486M, S486N, W342G, W393K, L538S, I172Y, F457L, F329E, L263T, W246D, T489Y, P581W, I178E, W555I, W393H, M384G, S486P, L538E, W246S, W354Q, W246A, F468A, W342A, D400G, Q289E, L538R, I178G, W535K, L371P, L227E, Y374G, D463E, G458H, W535H, Y506S, G458R, P485W, L343E, Y545R, F272E, Y344S, L263E, Y369R, F368P, S486W, L595F, N383G, F468K, Y448K, M274G, S486I -> [stability, long_range] --- T489R, T489H, T489W, T489Y, T489E, T489K, T489F -> [stability, functional site] --- T489R, T489H, T489L, T489W, T489I, T489M, T489Y, T489V, T489E, T489K, T489Q, T489F -> [long_range, functional site] --- S510H, S233G, S510F, S510W, S510Y -> [long_range, ptm] --- T489R, T489H, T489W, T489Y, T489E, T489K, T489F -> [stability, long_range, functional site] +-- Y506P, F465N, F468N, T488H, W437D, L538Y, L309A, W176D, W246D, W437H, A243F, L538A, L395G, H461I, Y506D, L263G, W354E, T488E, W407R, Y441N, A243R, L343D, I178E, Y369S, F368C, Y215K, P429G, F329R, F457A, Q598W, C252F, E248P, W211E, Y448N, P330G, T488L, F386N, I172H, W555E, S486N, A243N, W342N, G458H, V512P, Y441C, W437E, S486D, L538C, S509K, T488Y, P485W, W211T, M274G, A243V, W555P, D463W, L343N, W535D, G458R, Y506T, R563P, L309D, F468E, Y545P, G458F, M274P, Y441E, W354D, L343E, F329Q, Y448C, F368R, A243D, D463Y, L612E, W393K, Y539G, W246G, Y539N, C252H, T488W, W555S, T489R, G579K, Y539S, F457L, W393Q, S486I, W342A, F468K, Y369C, F272S, G458K, L538S, Y369G, Y545T, L343A, W535G, W555K, Y315C, G458V, L262T, L263E, T489F, Y545Q, G458E, Y344R, F368H, V318S, H556P, F468R, F173I, L309G, F468Q, P485R, R476G, H288P, F173P, L216P, Y545N, A243M, Y506E, Y539A, W393S, L547N, W176G, L538N, F468G, W437L, A243Y, W393G, L180S, L371G, L538E, F368K, F457I, W354G, W407A, W393D, Y441Q, A243K, W535Q, F368A, Y545D, V318G, A243H, T488I, G579D, Y448Q, W437T, F465G, W535K, Y448R, L371E, S475P, Y448S, W176Q, L266G, W176H, L262N, F457Q, W246E, W535I, W393P, Y448A, Y506V, W354Q, F457T, L514P, K578W, Y369A, L263N, Y506I, A243L, Y506G, W246P, W555D, Y344S, P552G, L395P, L309E, F465D, Y315N, L547D, T489E, D515H, F272A, G579R, W555G, F329E, F386R, F457C, T488M, R602D, F386I, L547E, Y215R, L227H, W535T, Y506Q, Y315T, Y374P, Y539R, D463F, S486K, Y448P, G458N, L612N, W354P, A243I, Y442P, G492V, Q289E, L538G, C252W, R447P, F465S, G508P, W211G, Y369H, G458D, F308P, P485H, F272D, G218I, S486F, F272K, L547A, Y441D, Y315A, Y369P, W246S, K189P, Y315P, L547P, W342S, W407Q, Y369R, F386G, Y369N, W407H, Y441K, R476P, S509W, F368V, Y539D, L262S, W437V, L343C, C252Y, G492I, Y344N, W246I, L595Y, W342C, L343S, Y441P, F368I, W393A, L608D, S486L, L262D, F468D, W437N, M384S, F468H, F272G, C252R, F386A, D400S, W437R, W407G, Y442C, G579F, L343G, Y344Q, E517P, L227D, D463Q, L266D, W535C, W393H, L227G, W211K, Y215E, W342H, Y545G, W342G, L394D, W407N, W342R, R443P, F465A, Y448K, Y545A, S486R, F386P, L262A, L538T, F468P, V286P, F457R, F368Q, F386S, L227E, W354A, Y369D, Y441T, Y215Q, R364P, C252E, M384E, Q404D, P401G, W211Q, W393C, T488K, F272H, V312P, W211A, G458L, L478S, W535N, R306P, L547G, F465Q, W555I, Y442G, F272N, P485K, L595F, Y344C, L478P, W555A, A243P, L180G, W246V, F329G, G458P, W211R, W176E, W535A, L263C, F272P, L309S, T489H, G218P, Y545S, L262G, W354I, S509F, F465P, W535S, F368G, S509P, Y215P, L343P, Y539I, P430G, R591Y, W555N, A243Q, Y442D, F386C, L538P, T489Y, Y448I, F386V, Q404P, L547S, W211N, S509R, W535V, Y448D, F368P, F465C, G458Y, Y539E, F465E, Y441V, L371P, G579I, I178H, S509E, W407V, F386D, Y545V, L262H, F457K, F386T, L263T, V462P, L266A, W354T, W439P, Y545C, S509D, T488F, Y344P, G508V, Y448E, Y539C, S509N, L595R, L227N, M384G, Y369V, I334G, T488R, G508I, R231P, L434P, I365P, Y448G, W535R, F465R, T489K, L394H, L547T, Y215G, F465T, Y369Q, L394G, W407S, S250I, P221E, S509H, Y506C, Y315Q, Y344D, N383G, P485F, L568P, L612P, I172Y, L262C, M384D, F386Q, W246T, L256G, W437P, W176N, Y545R, W354C, Y506H, F329S, I178G, H459I, Y315R, S486P, W535H, Y315G, W407P, W437C, G458I, L538R, Y448T, W437Q, F457D, L262E, W437A, F308D, W176P, Y442R, F386E, Y315S, F368S, G579Q, W211P, F368N, W535P, L266P, Y441R, F457P, W211S, F329T, I172D, L478G, S486V, L538W, F329K, Y315D, G458W, P485E, G579Y, Y441A, F457G, D400G, Y545E, I334S, A128P, P485Y, D463K, S486H, A243E, W407D, W555C, I334P, F272Q, S486Q, F368D, S486M, L263D, H580P, W407E, W176T, K307P, L266E, L343H, Y374G, L394P, F457N, Y539P, F457E, G458M, W176L, F329P, Y506A, F272C, S261P, W393E, I178S, W393R, L309P, Y539Q, A243W, D463H, L266H, W354R, G458C, L371D, W354V, Y369E, F457S, F272R, S509L, F272T, I172G, G579E, S486E, S486W, W407T, G458Q, Y344E, W535E, L266S, L394E, L612D, L227P, W211H, W354K, Y442K, Y441I, T489W, W176V, P581V, L612H, I178P, Y539T, L612G, L612S, Y215D, W407C, W354N, Y506N, N383S, F465K, Y441G, W535L, G579V, Y442E, W555R, F368E, L263P, G579H, Y315E, Y369T, W342T, F468T, W437G, L343T, F468S, Y506K, F329A, G579P, L595W, W437K, W555V, W437S, Y441S, Y215S, Y369K, Y539V, W555T, L478D, Y539K, S250P, I178D, L538D, F468C, P485Q, L478E, Y369I, L263S, P581W, Y344G, C252K, H284P, W393N, H459W, D463R, F272E, W437I, G492P, S600P, G458T, S509Y, W393T, R447G, L608G, E449P, W354S, D463E, F468A, F368T, G218V, W555Q, Q404G, F173T, I178Q, W246A, V318D, F386K, F457V, Y506S, L266N, P485M, L256S, L262P, S486Y, W211D, K578Y, Y374D, L263A -> [stability, long_range] +-- T489Y, T489F, T489R, T489E, T489K, T489H, T489W -> [stability, functional site] +-- T489Y, T489V, T489F, T489R, T489L, T489E, T489Q, T489I, T489K, T489M, T489H, T489W -> [long_range, functional site] +-- S510H, S510F, S233G, S510Y, S510W -> [long_range, ptm] +-- T489Y, T489F, T489R, T489E, T489K, T489H, T489W -> [stability, long_range, functional site] - We aggregated all the variants that have at least one of the MAVISp modules with a predicted damaging effect (except for PTM.function) and retained only the ones with a REVEL score higher than 0.5 for a total of 154 variants which could be of interest for further investigation: -- ['W86C', 'L97P', 'L105P', 'V114M', 'L121P', 'A128T', 'L139P', 'V152A', 'P155Q', 'P155R', 'L163P', 'G164V', 'G168E', 'G168R', 'G168V', 'W170G', 'W176R', 'I178N', 'L204H', 'W211C', 'W211R', 'L216P', 'G218V', 'C223G', 'C223S', 'C223Y', 'L227P', 'L227V', 'A243V', 'G244E', 'G247D', 'G247S', 'E248K', 'E248Q', 'S250R', 'C252R', 'D253E', 'D253H', 'L256P', 'T258P', 'E260Q', 'L266P', 'M274V', 'Y276C', 'Y276H', 'G279E', 'D280E', 'P282S', 'W287C', 'R291C', 'R291H', 'R291L', 'R291S', 'L298P', 'V314A', 'G319R', 'G319S', 'F329C', 'P330A', 'P331S', 'P332A', 'P332S', 'R341C', 'W342C', 'A359D', 'A359V', 'L363R', 'R364G', 'Y369C', 'Y369H', 'L371P', 'P373S', 'S381P', 'N383S', 'F386V', 'R389C', 'R389H', 'N391H', 'W393G', 'T399A', 'P401A', 'P401R', 'Q404R', 'V409G', 'E411D', 'E411G', 'H427R', 'P429L', 'P430A', 'P430S', 'C433R', 'C433W', 'S438R', 'R443L', 'R443P', 'I444N', 'Y448C', 'A453D', 'F457L', 'F457S', 'G458D', 'H459R', 'H459Y', 'E464K', 'F465L', 'F465S', 'V467F', 'Y469C', 'Y469S', 'D470N', 'R476G', 'R476L', 'R476Q', 'R476W', 'S486N', 'S486R', 'T488A', 'Y490N', 'G492R', 'L493F', 'N494I', 'N494K', 'R498P', 'Y500N', 'G504E', 'Y506C', 'S510F', 'S510P', 'H516L', 'H516Q', 'H516R', 'H516Y', 'Y519C', 'L521R', 'N522K', 'N522S', 'W535R', 'Y539C', 'P552S', 'L558P', 'V559E', 'D565Y', 'Q570H', 'Q570P', 'W573S', 'Y576D', 'H577R', 'G579D', 'G579S', 'P581L', 'C586R', 'C596R', 'R602C', 'R602H'] - We aggregated all the variants that have at least one of the MAVISp modules with a predicted damaging effect (except for PTM.function) and retained only the ones with a Demask delta fitness >= 0.25 or <= -0.25 for a total of 2291 variants which could be of interest for further investigation: diff --git a/dot_plot/examples_v2/simple_mode/mechanistic_indicators_out.csv b/dot_plot/examples_v2/simple_mode/mechanistic_indicators_out_aggregated.csv similarity index 100% rename from dot_plot/examples_v2/simple_mode/mechanistic_indicators_out.csv rename to dot_plot/examples_v2/simple_mode/mechanistic_indicators_out_aggregated.csv diff --git a/dot_plot/examples_v2/simple_mode2/dot_plot.pdf b/dot_plot/examples_v2/simple_mode2/dot_plot.pdf index 294c900..d3a0d9c 100644 Binary files a/dot_plot/examples_v2/simple_mode2/dot_plot.pdf and b/dot_plot/examples_v2/simple_mode2/dot_plot.pdf differ diff --git a/dot_plot/examples_v2/simple_mode2/log.txt b/dot_plot/examples_v2/simple_mode2/log_aggregated.txt similarity index 88% rename from dot_plot/examples_v2/simple_mode2/log.txt rename to dot_plot/examples_v2/simple_mode2/log_aggregated.txt index b1b56f4..3c0b07b 100644 --- a/dot_plot/examples_v2/simple_mode2/log.txt +++ b/dot_plot/examples_v2/simple_mode2/log_aggregated.txt @@ -38,27 +38,27 @@ Summary of the effects. - 323 variants are damaging for Functional site ['cofactor'] module See csv file for details. - No classification for Long Range-PSN available yet. - Variants with multiple effects: --- G279H, G244V, G279W, R273P, R248P -> [stability, local_interactions] --- S94Y, R175E, F270Q, G245M, P142H, C176L, F113D, F134S, R158P, V216P, F134T, F134P, V203P, S127K, I251Q, R249G, Y163T, F134R, S127R, Y126G, G245R, Y163K, C238R, E286P, A159D, Y163S, L111S, I232E, M246D, I251A, L130E, Y163R, I195W, V197K, L111R, G245Y, E198P, Y126P, F270N, L111C, Y220D, G244V, F113S, L194C, L111Y, R110P, F113V, Y236D, Y220G, L111G, G245W, R213D, I251S, G199I, G244I, Y126E, I232S, Y220E, L289P, Y234P, G245P, L111H, S94Q, I251H, L111A, Y220S, R248P, Y205I, V197F, F270T, F113Q, Y205S, E204P, V173D, Y107C, Y236T, Y107T, L194D, N235Y, Y236V, Y205C, S94R, Y234V, Y236I, I251N, Y163E, R267P, S127P, Y205R, I195Y, Y107P, Y205E, F134D, Y103P, M246S, K139P, F134E, V197R, C176K, A159H, Y126Q, Y205V, F270C, E180P, Y220V, C135K, V197W, S94K, V216S, G199P, G226I, Y236N, G245C, R196P, I232A, V143S, Y234S, C135R, G154P, Y234T, S94H, V122P, A159F, Y205T, F270R, V272P, L111P, Y126A, Y205K, L130G, F134G, V197G, Y163Q, Y107G, V197N, V203H, C238F, L111T, F113G, F134K, W146P, G262I, I195F, V272G, Y163C, R156P, Y236H, M160D, Y205Q, N200G, P151W, M160P, I255G, F113P, I255H, V197P, V217H, P151E, S127H, C135Y, C238W, Y163A, V216D, G245E, G245K, L194G, G154T, Y234D, H179G, F134A, Y205P, Y163G, C176Y, Y236C, V272S, V272N, Y234R, F113K, M246G, I232P, N131I, F113I, R175D, Y220A, R213P, I255N, F270E, A159Y, F134Q, Y126K, L194S, V197Y, Y234C, V203Y, V197H, G245N, Y126T, P151K, L111W, A138P, Y220N, I255A, Y234N, F134N, I255E, R158G, V216N, E285P, Y234G, N131V, F134H, G226P, G226V, Y236Q, L194E, F113N, Y220Q, E287P, G154V, G245D, F113R, Y236R, Y107A, V173N, Y220T, A159W, V203D, V173G, Y205A, G245F, M246R, F113T, Y126S, G245Q, G245L, V203W, S94E, G245A, F134C, I255T, F113E, Y107E, Y236G, Y205D, V203R, E286G, V143P, R282D, I232D, A159E, H179P, P151H, I251G, G262V, Y236K, S94W, G244P, I255P, R213G, V272D, I255D, Y234K, G154I, C238G, C238K, R249P, K164P, F270D, F270P, V203F, C135W, V218G, I255Q, L111N, L111D, G245V, Y236S, I232G, F270V, G112P, M160G, I195R, Y234A, V217R, F270K, C135E, Y234Q, F113A, Y126R, I255S, Y236P, Y126D, I255C, F113C, C176I, Y205N, P278G, F270A, S127W, Q136P, Y220P, C176R, S127Y, P151Y, L130D, V218P, V143N, L111E, V143G, V216G, C176W, V143D, M237P, F270S, L206P, F270G, V218D, I251E, G262P, V143A, C238Y, Y236A, R273P, Y107S, Y107D, S94N, G199V, Y205G, Y163D, I251D, Y234E, G245H, A159R, A159K, Y126C, L194A, Y236E, P151R, L111Q, V197S, R282P, G187P, H168P, Y220C, Y126N, L194N, V197D, R267D -> [stability, long_range] --- G245C, C238P, C141P, C141K, C238G, C238K, C141E, C238F, C238R, C141F, C242P, C238Y, C141R, C141W, C238W, C141G -> [stability, disulfide] --- G245C, V274H, R175E, C238P, G245F, R175Y, M246D, M246R, G245W, V274W, C242P, G245M, M246S, C176I, C238W, V274E, G245H, C176L, G245E, L194G, G245K, G245L, G245Q, V274Q, C238G, C238K, L194K, C238F, C176P, C176W, G245A, G245Y, C176K, L194S, S240P, H179G, V274Y, V274K, C176Y, L194A, L194E, E180P, L194D, C182P, V274D, V274F, G245P, M246G, C238Y, H179P, V274G, G245R, C238R, G245D, R175W, L194C, L194R, G245N, L194N, C176R, V274R, V274S, R175D, G245V -> [stability, functional site] --- Y126D, Y126C, Y126P, Y126Q, Y126G, Y126E, Y126R, Y126K, Y126A, Y126N, Y126T, Y126S -> [stability, ptm] --- K120G, K120Q, C275K, N239Y, N239M, D281G, K120A, K120N, G244D, G244C, H178L, K120H, H178Y, R248C, C275R, C275W, D281S, K120D, H178P, R273H, M243T, K120E, K120P, G244E, H178Q, R248G, C275T, C275Y, H178D, W91S, G244V, R248L, R273P, H178N, D281A, R248P -> [local_interactions, long_range] +-- G279H, R248P, G279W, G244V, R273P -> [stability, local_interactions] +-- F113V, S94R, L130E, C135R, G245C, A159Y, V203H, Y220N, G187P, I255S, V217R, F113G, F113S, Y205I, K139P, Y126A, C176L, F113T, Y163K, I195Y, Y220P, R175D, F270Q, I255A, I255D, Y163T, S94Y, I255Q, H168P, Y220E, G262V, S127W, C176R, L194G, V143P, Y107E, M160D, Y234K, V197N, I251G, Y205G, I251H, R175E, F134D, L111D, I232G, S94N, V143N, Y163D, Y205P, C135W, C238Y, Y126E, L111C, V272N, V272D, F113P, Y163G, P151W, R267D, E180P, P151H, Y107C, V197H, F134T, G226V, Y107D, I232A, R267P, L194S, Y205S, V197W, F270P, G245E, V173N, A159R, I255G, M246R, Y220G, G245Q, Y234D, I255N, I232E, Y236Q, F134K, Y205K, G199V, M246D, L111H, Y236A, V197P, R158G, V197G, P142H, V197D, R282D, Y107A, Y236R, Y234E, I251N, I232D, Y220D, C176Y, V197K, Y234V, G112P, F270N, S127P, L206P, S127H, V272P, V173D, Y234T, Y126D, F270C, Y220S, G245H, Y234S, F113K, Y220C, G245K, A159F, G154V, Y126K, F113Q, G199I, I232P, Y126C, V143S, R249G, V173G, S94E, G262I, Y220T, V216S, V216G, L111N, V216P, F134C, Y236D, A159E, L111G, V122P, L111Q, V217H, N235Y, Y234A, R196P, Y126R, Y236E, M246S, L194D, I255T, A159D, I255E, F134E, M246G, G245F, Y205E, C176W, M160P, V218D, C135E, L130D, V272G, R213G, V203F, V143G, C176I, N200G, Y236I, I255P, F270R, Y234Q, I255C, L111Y, P151K, S127R, L111E, F270S, F134N, Q136P, V218G, F134A, R273P, E198P, V197R, H179P, V203R, Y220Q, I251D, C238G, Y163S, G199P, Y234G, V143A, Y205T, Y234N, G245M, Y236G, L289P, Y107S, V203P, F134R, R282P, A159K, A159H, S94W, V218P, Y234R, Y205A, L111A, L111T, F113D, L194A, C238R, Y163R, E286P, V203D, G244P, I251Q, Y107T, M160G, F270V, Y205D, G245D, R249P, V197S, Y163A, I232S, R213P, E204P, F113C, Y220V, F270A, Y234P, I251S, I251E, Y205V, F270G, C238K, V272S, A138P, Y107P, L111S, Y163Q, F270E, G244I, P278G, S94Q, Y236H, F270T, G245A, Y236S, F134P, G245N, M237P, V197F, R158P, V197Y, F134G, F113N, L130G, Y126T, Y126Q, G154I, Y163C, G245Y, Y163E, N131V, K164P, G154P, G226I, G154T, G226P, R213D, Y126N, C176K, C135Y, E285P, L111R, Y236K, Y236V, L194E, Y107G, P151Y, W146P, C238W, V203Y, Y236N, H179G, G245W, V203W, Y205Q, Y236P, C135K, G245V, S127K, P151R, Y236C, L194N, L194C, G245R, G245P, V143D, F113A, V216N, Y126P, A159W, Y205N, I195W, F113E, G244V, I255H, Y205C, S94K, R156P, F270K, Y103P, L111W, N131I, Y126S, Y234C, G245L, F134Q, R110P, F134S, Y220A, Y126G, S127Y, F134H, F270D, S94H, P151E, Y205R, V216D, R248P, C238F, I195F, L111P, F113R, I251A, E287P, E286G, G262P, I195R, Y236T, F113I -> [stability, long_range] +-- C141W, C238K, C238Y, C141E, C141F, C238W, C141R, C238G, C141G, C238F, G245C, C238P, C238R, C242P, C141P, C141K -> [stability, disulfide] +-- C238K, G245W, G245C, G245Y, V274W, L194D, M246S, S240P, V274E, G245D, C176R, L194G, L194S, G245F, M246G, C176L, C238Y, C238F, L194R, G245E, V274R, C176W, G245A, C176K, G245H, C182P, C238P, R175W, M246R, G245Q, G245V, V274Q, G245N, V274G, H179P, G245K, L194N, C176Y, L194C, G245M, V274F, V274H, R175D, L194A, L194E, C176I, V274S, E180P, R175Y, G245R, L194K, C238W, R175E, C238G, C176P, M246D, G245L, V274D, V274K, G245P, C238R, C242P, V274Y, H179G -> [stability, functional site] +-- Y126R, Y126A, Y126D, Y126E, Y126Q, Y126S, Y126G, Y126T, Y126N, Y126K, Y126P, Y126C -> [stability, ptm] +-- H178N, R248L, K120Q, K120H, H178Y, M243T, C275K, H178D, G244V, W91S, H178Q, R248G, C275T, R248P, C275W, G244E, R273P, R248C, D281G, C275R, H178P, K120E, K120P, K120G, G244D, H178L, K120A, K120D, N239Y, G244C, D281A, N239M, C275Y, K120N, R273H, D281S -> [local_interactions, long_range] -- C242W, D281C -> [local_interactions, disulfide] --- H178D, H178P, M243T, N239M, H178N, N239Y, S240Y, H178L, H178Y, C242W, S240F, H178Q, S240W -> [local_interactions, functional site] --- K120C, G245C, W146C, C238E, Q144C, C238L, C124S, C238M, C238W, C238H, C242S, C238G, C238K, C124A, C238F, C238A, C238T, C238N, C238Q, C124G, H179C, V272C, C242G, C238Y, C238V, C238R, C238S, C242A, C238I -> [long_range, disulfide] --- R175E, P177F, H179Y, E180F, R181I, C238L, G245M, C176N, M246S, E180N, N239M, C238H, R175M, C176L, C242S, C176K, H178W, L194S, C182L, C176E, M243H, L194T, R175H, E180W, M246F, C182S, C238Q, L194V, M246P, H178P, N239H, E180P, E180C, H179W, C176S, P177M, L194H, M243C, H178V, M243A, P177H, H179I, M246A, H178D, C238V, C176V, N239F, N239R, G245R, C238R, M243K, C182M, G245N, G245T, C182R, H179C, H178F, R175S, E180M, C238I, G245C, M246D, C176M, E180S, C238E, E180H, N239Y, C182E, H178S, C176I, H178M, C238M, M243R, N239W, R175L, H179N, E180D, M243S, N239Q, G245Y, R181C, H178Y, C182W, H179Q, G245I, H179A, C176T, R181N, P177W, H178T, R181A, L194E, E180Y, C182I, R181T, R181W, E180G, E180I, N239K, P177I, G245D, R181D, L194C, R175T, C238S, E180T, C176R, H179R, H178C, C176A, G245F, N239E, M243E, M246R, G245W, H178A, H178R, E180A, R181P, C182Q, M243N, C176Q, C176G, H178G, C176F, R175P, G245Q, C182V, G245L, M246N, C182A, H179V, R175V, H179T, C182N, C176W, H179M, R181M, L194P, R181V, C238F, C238T, G245A, P177R, N239V, M246K, P177K, R181G, R181F, M243D, M246V, M243V, H179S, G245P, M243F, R181S, C242G, C238Y, H179P, M246C, R181Q, N239I, M246H, R181Y, R175N, C176H, C242A, E180K, H179F, P177E, C182K, N239L, M243W, E180Q, C182G, M246T, E180R, E180L, C238W, G245H, M246W, C182H, G245E, L194G, G245K, H178K, C238G, C238K, M246E, C238A, H179D, H179K, M246Y, H178L, C238N, H179G, R181L, M243G, H179L, P177L, H179E, R181E, C176Y, H178I, L194A, M243Q, R175C, L194D, M243T, P177V, P177Y, H178Q, C182F, G245S, M246G, C182Y, R175I, L194Q, H178E, R181H, M243P, P177Q, R175A, M243Y, C182T, H178N, M246Q, L194N, S240G, R175Q, R175G, R175D, G245V -> [long_range, functional site] --- S99P, T150W, S183H, T150C, S183C, S99N, T150I, T211I, S149H, S99R, S149E, Y126K, S99E, S149C, T150H, S183T, S185Y, Y126Q, S149F, S185L, S183M, S185Q, T150A, T150S, S149M, Y126G, S183Y, S185N, Y126R, S185E, Y126T, Y126D, S183F, S185W, S185P, S99F, S149N, T150L, S183R, S99L, S185M, S99G, S149T, S185H, S149Y, S185K, Y126V, Y126P, S183D, Y126A, T211S, T211Y, S183L, T211G, S183P, S215G, S149D, S149V, S185R, S99V, T150G, S99M, T211A, S149W, S183G, S183Q, T211E, S183K, T211M, Y126S, S149K, S183E, Y126E, T211W, S106G, S185I, S183W, T150R, T211H, S185D, S149L, S183N, T211R, T150Y, S183I, T150F, T211V, S185F, S185V, S99H, S99D, S149Q, T150E, S149I, Y126H, T150K, S185C, S149R, Y220L, S99I, T150M, T150V, S185G, S99C, Y126C, S185T, Y220M, T211F, T211K, S99W, S99K, S149P, T211L, S269G, Y126N, S99Q, T211C, S183V, T211Q, T150Q -> [long_range, ptm] --- G245C, C238P, C238E, C242P, C238L, C242K, C238M, C238W, C242V, C238H, C238D, C242N, C242S, C238G, C238K, C242Q, C238F, C238A, C242L, C242D, C238T, C242Y, C238N, C242M, C242E, C238Q, C242A, C242R, C242H, C242F, C242G, C238Y, C242T, C238V, C242I, C238R, C238S, C242W, H179C, C238I -> [disulfide, functional site] --- R273P, G244V, R248P -> [stability, local_interactions, long_range] --- G245C, C238G, C238K, C238R, C238F, C238W, C238Y -> [stability, long_range, disulfide] --- G245C, R175E, G245F, M246D, M246R, G245W, G245M, M246S, C176I, C238W, G245H, C176L, G245E, L194G, G245K, G245L, G245Q, C238G, C238K, C238F, C176W, G245A, G245Y, C176K, L194S, H179G, C176Y, L194A, L194E, E180P, L194D, G245P, M246G, C238Y, H179P, G245R, C238R, G245D, L194C, G245N, L194N, C176R, R175D, G245V -> [stability, long_range, functional site] --- Y126D, Y126C, Y126P, Y126Q, Y126G, Y126E, Y126R, Y126K, Y126A, Y126N, Y126T, Y126S -> [stability, long_range, ptm] --- G245C, C238P, C238G, C238K, C238R, C238F, C242P, C238W, C238Y -> [stability, disulfide, functional site] --- H178D, H178P, M243T, N239M, H178N, N239Y, H178L, H178Y, H178Q -> [local_interactions, long_range, functional site] +-- H178N, H178P, H178Q, C242W, S240W, N239M, H178Y, M243T, S240F, H178L, H178D, S240Y, N239Y -> [local_interactions, functional site] +-- C238K, C124G, G245C, C238S, V272C, C238Y, Q144C, C238F, C124A, C238T, K120C, C242A, C242S, W146C, C242G, C238I, C238Q, C238N, H179C, C124S, C238A, C238V, C238W, C238G, C238L, C238R, C238E, C238M, C238H -> [long_range, disulfide] +-- H178N, H179D, M243K, G245C, G245Y, H179R, R181E, H178Y, C238S, R175S, H179L, C182Y, C176L, H179A, R181W, C176K, E180N, H178S, C182S, L194V, H179Y, C182W, L194T, N239R, H179P, M243D, H179E, H178I, P177E, C176Y, R181D, M243F, R175D, C176H, H178C, H178L, C182N, L194E, N239Y, H179C, E180S, M246N, M246Q, C238W, C182Q, C238G, N239I, R181Q, P177H, R181L, E180M, H178F, H179G, C238M, M243S, C238H, G245M, C176E, G245W, R175A, C182E, E180H, H179F, H179S, M243T, H178M, M243R, C176N, R181N, C176R, H178D, M243H, L194G, H178T, H179M, E180A, E180L, M246T, M246W, R175N, H179T, E180F, H178W, G245H, L194Q, C182L, E180D, H178V, S240G, G245V, R175M, M243G, M243C, R175Q, H178E, G245K, C242G, M243W, L194N, L194C, R181C, C182K, H179N, L194A, C238Q, C238N, H178G, E180Q, R181A, N239Q, G245R, C238V, R175E, N239M, C238L, G245P, M243V, C176V, C238R, C176G, P177W, P177R, C176Q, C182G, M243N, G245T, R181H, C176M, M246A, M246P, G245S, G245I, P177L, H179K, N239V, R181P, R175L, C182H, E180C, G245D, N239L, R181G, E180Y, E180G, C238Y, E180I, P177F, C176S, M243P, H179W, H178A, H178P, E180R, L194P, C182A, H178K, R175P, R181M, M246H, E180P, C238A, N239H, P177M, M246K, P177Q, C182V, G245L, C176F, C182I, C182T, C238E, N239E, P177V, R175I, R181S, C238K, C182R, N239F, M246V, P177I, R181T, C176A, R181F, L194D, M243E, M246S, M243Q, R175C, N239W, R175G, R181I, N239K, H179V, H178R, L194S, G245F, M246G, H178Q, R175V, C238F, C238T, R175H, M243A, C176W, R181Y, C182F, G245A, G245E, M243Y, P177K, H179Q, G245Q, M246C, M246R, L194H, G245N, H179I, C242A, C242S, C238I, C176I, C182M, C176T, E180W, M246Y, M246D, R175T, R181V, E180T, P177Y, M246F, M246E, E180K -> [long_range, functional site] +-- S183I, T211V, T150H, T150G, S185M, S185Q, S149Y, T211M, S185H, Y126A, S185R, Y126N, S183K, S99P, S149H, S149N, T211A, S149M, S183P, S183Q, T211C, S99H, T211R, T150I, S99N, T211Q, S185N, T150M, T150Q, S149L, S183R, S149C, S185L, Y126D, S99D, S185E, S149R, T150W, S183H, S99E, S99G, S99V, Y220L, S149I, Y126K, S149D, S185D, T211S, T150F, S185G, S183M, S106G, T150S, T211L, Y126P, S183W, Y126C, S99C, T211I, S183F, S149V, S149K, S149T, T211Y, Y126E, T211F, T150E, S185Y, S269G, S183T, S149W, S183N, S183G, S149E, Y126S, S185V, T150C, S185T, S185K, S99R, Y126R, Y126G, T211H, S149P, S183C, S183D, S149F, T150L, T211K, S215G, S183Y, Y126V, Y126Q, T211E, S99M, Y126H, S185W, T211G, T150A, T150Y, S183E, S99K, S99L, S183L, S183V, S99Q, S185I, S185P, T150K, T211W, T150V, S99I, S99W, S99F, S185C, S185F, T150R, Y220M, S149Q, Y126T -> [long_range, ptm] +-- C238K, C242L, C242Q, G245C, C238S, C242E, C238Y, C242H, C238F, C238T, C242V, C242N, C238P, C242M, C242Y, C242R, C242W, C242A, C242S, C242G, C238I, C238Q, C242D, C238N, H179C, C238A, C238V, C238W, C242I, C238G, C238D, C238L, C242T, C238R, C242P, C238E, C242K, C242F, C238M, C238H -> [disulfide, functional site] +-- R273P, R248P, G244V -> [stability, local_interactions, long_range] +-- C238K, C238Y, C238W, C238G, C238F, G245C, C238R -> [stability, long_range, disulfide] +-- C238K, G245W, G245C, G245Y, L194D, M246S, G245D, C176R, L194S, L194G, G245F, M246G, C176L, C238Y, C238F, G245E, C176W, G245A, C176K, G245H, M246R, G245Q, G245V, G245N, H179P, G245K, L194N, C176Y, L194C, G245M, R175D, L194A, L194E, C176I, E180P, G245R, C238W, R175E, C238G, M246D, G245L, G245P, C238R, H179G -> [stability, long_range, functional site] +-- Y126R, Y126A, Y126D, Y126E, Y126Q, Y126S, Y126G, Y126T, Y126N, Y126K, Y126P, Y126C -> [stability, long_range, ptm] +-- C238K, C238Y, C238W, C238G, C238F, G245C, C238R, C242P, C238P -> [stability, disulfide, functional site] +-- H178N, H178P, H178Q, N239M, H178Y, M243T, H178L, H178D, N239Y -> [local_interactions, long_range, functional site] -- C242W -> [local_interactions, disulfide, functional site] --- G245C, C238E, C238L, C238M, C238W, C238H, C242S, C238G, C238K, C238F, C238A, C238T, C238N, C238Q, H179C, C242G, C238Y, C238V, C238R, C238S, C242A, C238I -> [long_range, disulfide, functional site] --- G245C, C238G, C238K, C238R, C238F, C238W, C238Y -> [stability, long_range, disulfide, functional site] +-- C238K, G245C, C238S, C238Y, C238F, C238T, C242A, C242S, C242G, C238I, C238Q, C238N, H179C, C238A, C238V, C238W, C238G, C238L, C238R, C238E, C238M, C238H -> [long_range, disulfide, functional site] +-- C238K, C238Y, C238W, C238G, C238F, G245C, C238R -> [stability, long_range, disulfide, functional site] - We aggregated all the variants that have at least one of the MAVISp modules with a predicted damaging effect (except for PTM.function) and retained only the ones with a REVEL score higher than 0.5 for a total of 628 variants which could be of interest for further investigation: -- ['P92A', 'P92S', 'L93V', 'S94L', 'S94P', 'S94T', 'S95F', 'S96P', 'S96Y', 'V97A', 'V97D', 'V97F', 'V97I', 'P98H', 'P98L', 'P98S', 'S99F', 'S99P', 'T102I', 'Y103C', 'Y103H', 'G105A', 'G105C', 'G105D', 'G105R', 'G105S', 'G105V', 'S106R', 'Y107C', 'Y107D', 'Y107H', 'Y107S', 'G108D', 'G108V', 'F109C', 'F109S', 'F109V', 'R110G', 'R110H', 'R110L', 'R110P', 'R110S', 'L111P', 'L111Q', 'L111R', 'F113C', 'F113L', 'F113S', 'H115Y', 'S116C', 'S116F', 'G117A', 'G117E', 'G117R', 'G117V', 'T118A', 'A119G', 'K120E', 'K120M', 'K120N', 'K120Q', 'K120T', 'S121F', 'V122L', 'V122M', 'T123I', 'C124F', 'C124G', 'C124R', 'C124S', 'C124Y', 'T125A', 'T125K', 'T125P', 'T125R', 'Y126C', 'Y126D', 'Y126H', 'Y126N', 'Y126S', 'S127C', 'S127F', 'S127P', 'S127T', 'S127Y', 'P128L', 'P128S', 'A129D', 'L130F', 'L130H', 'L130P', 'L130R', 'L130V', 'N131H', 'N131I', 'N131K', 'N131S', 'N131Y', 'M133K', 'M133R', 'F134C', 'F134I', 'F134L', 'F134S', 'F134V', 'C135F', 'C135G', 'C135R', 'C135S', 'C135W', 'C135Y', 'Q136E', 'Q136H', 'Q136K', 'Q136L', 'Q136P', 'Q136R', 'L137P', 'L137Q', 'L137V', 'A138D', 'A138P', 'A138T', 'A138V', 'K139E', 'K139N', 'K139Q', 'K139T', 'T140A', 'T140I', 'C141F', 'C141G', 'C141R', 'C141S', 'C141W', 'C141Y', 'P142A', 'P142H', 'P142L', 'P142R', 'P142S', 'V143A', 'V143E', 'V143G', 'Q144H', 'Q144K', 'Q144L', 'Q144P', 'Q144R', 'L145P', 'L145R', 'W146C', 'W146G', 'W146S', 'V147F', 'V147I', 'D148V', 'D148Y', 'S149P', 'P151A', 'P151H', 'P151L', 'P151R', 'P151S', 'P152A', 'P152S', 'G154A', 'G154C', 'G154D', 'G154S', 'G154V', 'T155I', 'R156G', 'R156H', 'R156L', 'R156P', 'R156S', 'V157A', 'V157D', 'V157F', 'V157G', 'R158C', 'R158G', 'R158H', 'R158L', 'R158P', 'R158S', 'A159D', 'A159P', 'A159T', 'A159V', 'M160K', 'M160R', 'M160T', 'M160V', 'I162N', 'I162S', 'Y163C', 'Y163D', 'Y163H', 'Y163N', 'Y163S', 'K164E', 'K164M', 'K164N', 'K164Q', 'K164T', 'Q165E', 'Q165P', 'S166L', 'S166P', 'S166T', 'Q167H', 'Q167K', 'Q167L', 'Q167R', 'H168D', 'H168L', 'H168N', 'H168P', 'H168Q', 'H168R', 'H168Y', 'M169T', 'M169V', 'T170A', 'T170K', 'T170M', 'T170R', 'T170S', 'E171A', 'E171D', 'E171G', 'V172A', 'V172D', 'V172F', 'V172G', 'V173A', 'V173E', 'V173G', 'R174G', 'R174M', 'R174S', 'R174T', 'R174W', 'R175C', 'R175G', 'R175H', 'R175L', 'R175P', 'R175S', 'C176F', 'C176G', 'C176R', 'C176S', 'C176W', 'C176Y', 'P177H', 'P177L', 'P177R', 'H178D', 'H178L', 'H178N', 'H178P', 'H178Q', 'H178Y', 'H179D', 'H179L', 'H179N', 'H179P', 'H179Q', 'H179R', 'H179Y', 'E180D', 'E180G', 'E180K', 'E180Q', 'R181C', 'R181G', 'R181H', 'R181L', 'R181P', 'R181S', 'C182R', 'C182W', 'C182Y', 'S183L', 'D184E', 'D184G', 'D184H', 'D184Y', 'S185R', 'D186E', 'D186G', 'D186H', 'D186V', 'G187C', 'G187D', 'G187R', 'G187S', 'G187V', 'L188Q', 'L188V', 'A189G', 'P190A', 'P190H', 'P190L', 'P190R', 'P190S', 'P191A', 'P191H', 'P191L', 'P191R', 'P191S', 'Q192H', 'Q192K', 'Q192L', 'Q192R', 'H193D', 'H193L', 'H193N', 'H193P', 'H193Q', 'H193R', 'H193Y', 'L194H', 'L194P', 'L194R', 'L194V', 'I195F', 'I195N', 'I195S', 'R196G', 'R196L', 'R196P', 'R196Q', 'V197A', 'V197E', 'V197G', 'V197L', 'V197M', 'E198D', 'E198G', 'E198K', 'E198Q', 'G199A', 'G199E', 'G199R', 'G199V', 'N200I', 'N200S', 'N200Y', 'L201S', 'R202H', 'R202L', 'R202P', 'V203A', 'V203E', 'V203L', 'V203M', 'E204A', 'E204G', 'E204K', 'Y205C', 'Y205D', 'Y205H', 'Y205N', 'Y205S', 'D207A', 'D207G', 'D207Y', 'D208E', 'D208G', 'D208H', 'D208V', 'D208Y', 'R209G', 'R209I', 'R209S', 'R209T', 'T211A', 'T211I', 'T211N', 'T211P', 'T211S', 'R213G', 'R213L', 'R213P', 'R213Q', 'H214L', 'H214R', 'H214Y', 'S215C', 'S215G', 'S215I', 'S215T', 'V216A', 'V216E', 'V216G', 'V217G', 'V217L', 'V218A', 'V218G', 'P219S', 'Y220C', 'Y220D', 'Y220H', 'Y220N', 'Y220S', 'E221D', 'E221G', 'E221K', 'P222L', 'P222Q', 'E224A', 'E224D', 'E224G', 'E224K', 'E224Q', 'V225D', 'V225F', 'V225G', 'G226A', 'G226D', 'G226S', 'G226V', 'S227P', 'D228A', 'D228G', 'D228H', 'D228V', 'D228Y', 'C229G', 'C229S', 'T230A', 'T230S', 'T231A', 'T231I', 'T231S', 'I232F', 'I232N', 'I232S', 'I232T', 'H233D', 'H233L', 'H233P', 'H233Q', 'H233R', 'H233Y', 'Y234C', 'Y234D', 'Y234H', 'Y234N', 'Y234S', 'N235H', 'N235I', 'N235K', 'N235S', 'N235Y', 'Y236C', 'Y236D', 'Y236H', 'Y236N', 'Y236S', 'M237K', 'M237R', 'M237T', 'M237V', 'C238F', 'C238G', 'C238R', 'C238S', 'C238W', 'C238Y', 'N239H', 'N239I', 'N239K', 'N239Y', 'S240G', 'S241P', 'C242F', 'C242G', 'C242R', 'C242S', 'C242W', 'C242Y', 'M243K', 'M243R', 'M243T', 'M243V', 'G244A', 'G244C', 'G244D', 'G244R', 'G244S', 'G244V', 'G245A', 'G245C', 'G245D', 'G245R', 'G245S', 'G245V', 'M246K', 'M246R', 'M246T', 'M246V', 'N247D', 'N247T', 'R248G', 'R248L', 'R248P', 'R248Q', 'R249G', 'R249M', 'R249S', 'R249T', 'R249W', 'P250A', 'P250S', 'I251N', 'I251S', 'I251T', 'I251V', 'L252P', 'T253P', 'I254S', 'I255N', 'I255S', 'I255T', 'I255V', 'L257P', 'L257Q', 'L257R', 'E258G', 'D259H', 'D259V', 'S260C', 'S260F', 'S260P', 'S260T', 'S260Y', 'S261G', 'G262C', 'G262D', 'G262R', 'G262S', 'G262V', 'L264R', 'L265P', 'G266E', 'G266R', 'G266V', 'R267G', 'R267L', 'R267P', 'R267Q', 'S269G', 'S269I', 'S269N', 'S269R', 'S269T', 'F270C', 'F270I', 'F270L', 'F270S', 'F270V', 'V272A', 'V272E', 'V272G', 'R273C', 'R273G', 'R273H', 'R273L', 'R273P', 'R273S', 'V274D', 'V274F', 'V274G', 'C275F', 'C275G', 'C275R', 'C275S', 'C275W', 'C275Y', 'A276G', 'A276P', 'A276T', 'C277F', 'C277G', 'C277R', 'C277S', 'C277W', 'C277Y', 'P278A', 'P278H', 'P278L', 'P278R', 'P278S', 'P278T', 'G279A', 'G279E', 'G279R', 'G279V', 'G279W', 'R280G', 'R280I', 'R280K', 'R280S', 'R280T', 'D281A', 'D281G', 'D281V', 'D281Y', 'R282G', 'R282L', 'R282P', 'R282Q', 'T284I', 'T284P', 'E285A', 'E285D', 'E285G', 'E286A', 'E286D', 'E286G', 'E287A', 'E287G', 'L289P'] - We aggregated all the variants that have at least one of the MAVISp modules with a predicted damaging effect (except for PTM.function) and retained only the ones with a Demask delta fitness >= 0.25 or <= -0.25 for a total of 1963 variants which could be of interest for further investigation: diff --git a/dot_plot/examples_v2/simple_mode2/mechanistic_indicators_out.csv b/dot_plot/examples_v2/simple_mode2/mechanistic_indicators_out_aggregated.csv similarity index 100% rename from dot_plot/examples_v2/simple_mode2/mechanistic_indicators_out.csv rename to dot_plot/examples_v2/simple_mode2/mechanistic_indicators_out_aggregated.csv diff --git a/dot_plot/examples_v2/simple_mode_foldetta/dot_plot.pdf b/dot_plot/examples_v2/simple_mode_foldetta/dot_plot.pdf index 47aa772..f9b7e66 100644 Binary files a/dot_plot/examples_v2/simple_mode_foldetta/dot_plot.pdf and b/dot_plot/examples_v2/simple_mode_foldetta/dot_plot.pdf differ diff --git a/dot_plot/examples_v2/simple_mode_foldetta/log.txt b/dot_plot/examples_v2/simple_mode_foldetta/log_aggregated.txt similarity index 86% rename from dot_plot/examples_v2/simple_mode_foldetta/log.txt rename to dot_plot/examples_v2/simple_mode_foldetta/log_aggregated.txt index 1010e1b..cf0523d 100644 --- a/dot_plot/examples_v2/simple_mode_foldetta/log.txt +++ b/dot_plot/examples_v2/simple_mode_foldetta/log_aggregated.txt @@ -46,28 +46,28 @@ Summary of the effects. - 323 variants are damaging for Functional site ['cofactor'] module See csv file for details. - No classification for Long Range-PSN available yet. - Variants with multiple effects: --- C242W, D281P, G244V, G279W, R248P, R273P, G279H -> [stability, local_interactions] --- K132W, H179L, L111W, V147K, Y234V, P278S, S149P, I232P, Y126L, Y220C, Y236R, R248V, A159H, A159W, Y220K, P151I, R213P, L206P, V203F, R181P, L130E, E286G, Y220E, F134D, V218D, P151H, V217W, F113P, L111G, Y236S, P151K, C176S, L188P, R158Y, E171P, R249G, R213G, F270E, L194A, Y126K, E204P, Y236V, F113S, H179V, M246N, I251G, S127R, S94F, C176R, C238N, G245M, Y107G, Y220G, L289P, V216S, V218G, W146D, Y234A, M246D, G244V, M246K, Y236C, M246F, K132F, F113D, M237Y, M246W, V197W, L194P, F134R, F134T, F113G, Y107E, C238R, V197R, C176N, M160Y, S94L, Y205Q, Y236Q, M133R, N235F, F134V, C238V, V203D, C176W, Y103P, V173D, Y234E, C135R, L194D, L111S, F113E, V197H, L111T, V216N, Y205S, C135Y, C176H, R175D, G226C, Y220D, C176K, C238F, V216D, Y126Q, C238M, Y126R, E198P, L137G, R196P, V197G, Y236P, G245L, F270D, S94W, R282D, F134C, I195F, G244P, F270S, R158W, F113C, F134E, Y234D, C176T, Y205V, I255H, P151G, L111C, C135E, V197K, Y220N, R282P, I255P, C176Q, M160G, Y107S, G245D, C135H, K139P, V272N, F270A, Y107A, P151R, H193P, E287P, Y163N, R175G, R158H, C238T, Y205N, Y126C, R213S, H168P, G226I, I255N, Y163G, F270N, L130G, V203K, F270H, E180P, M169P, G244T, F113K, G226V, N131V, K132Y, S94H, S94M, V272G, V143N, K164P, C238A, Y126G, L111P, Y205G, C238H, V216P, M246S, I251S, V217H, V143S, L130P, C176A, V203G, V272P, Y107N, Y126E, V197N, G199I, S94R, F270R, Y126T, Y163P, Y205A, I232D, I232G, H179Q, I255S, Y107T, V218S, V203R, R249P, Y205W, Y234T, Y103G, M160P, H178E, F270K, Y126N, G244I, M246R, A159D, V203N, R282G, S185P, I251N, V122P, R158N, G154I, I251H, Y163E, Y126S, S94D, F134G, P142H, G245Y, V217R, C176M, P151E, Y107P, V218P, F134Q, I251C, I255G, F134S, F270P, N235Y, H193W, I251A, H179F, C238K, F113I, G262I, F113N, Y126D, Y220P, V197A, M246G, D208G, R267D, L194C, R248I, F134H, Y163C, F270V, G245P, R158F, G245A, I255A, P278G, V272A, V143A, C238Y, I195R, N200G, Y236A, V203Y, Y107K, Y163R, H179T, Y107D, S94N, L111A, Y236E, H179I, L111E, G226A, Y234N, G154T, G245Q, I251P, V217F, Y163Q, G245R, Q136P, L111Y, Y234P, G112P, I195Y, Y236D, Y220S, S127Y, I255C, L130D, P190G, Y107C, R267P, S127W, A159Q, L194G, L111F, I232E, F270Q, E286P, G262V, P142G, V216G, G187I, C238I, G245N, L111R, P151Y, H193R, G245I, G154V, M246Y, R158P, M237P, I251E, V197Y, V197D, V173S, V173P, V203W, C238G, L111N, R158E, S94K, G226P, G226T, L194S, V217K, H179Y, V143P, V218N, P151F, A159E, Y205P, W146P, Y236T, Y234K, I255T, Y205C, A138P, Y220T, F134A, G245W, V203H, C176G, G187V, R175E, G245E, H179A, N239E, Y234S, C238L, G199P, N131I, Y126V, H179M, G245H, L194T, C238W, Y234R, V197P, G245K, F113R, W146G, V143D, I251D, C176V, F270T, C135F, C176F, S94E, Y163D, G187P, Y234Q, H179N, H179K, F134N, I255D, F113Q, L194N, C176Y, V272S, F113V, R110P, Y163S, R248P, P151Q, M246H, G154S, I255E, Y107R, R158D, H179R, Y236N, Y126P, R196D, A159Y, Y126A, G245V, Y234G, A159P, C238Q, R273P, I232A, G199V, S127K, A159R, L111H, F134K, V272D, Y163A, V173G, I251Q, F270G, R156P, V197S, Y205T, F113A, A159K, L111D, Y236K, G262P, A159F, G245F, Y163T, Y205I, R213D, G154P, Y205D, F134P, Y107Q, R158G, Y236H, C135K, R282H, V143G, Y205E, Y236I, Y220A, G245C, I232S, Y220Q, Y205K, S96P, Y220V, Y234C, L194E, H179P, L111Q, S127P, S127I, R175H, H179S, H179W, E285P, H179G, F113T, S94Q, V147W, F270C, C135W, C176I, I255Q, S127Q, I195W, G245T, P151W, G245S, V173N, V197F, Y236G, S127H, V203P, M160D, L194Q, Y163K, C176L, M160W, V217Y, Y205R, S94Y -> [stability, long_range] --- C242D, C242Y, C141F, C141K, C124P, C238M, C238Q, C141G, C141R, C238I, C238N, C141W, C238V, C238A, C242F, C141E, C242H, C238Y, G245C, C242P, C238H, C242W, C238T, C141Q, C141Y, C238G, C141H, C238L, C238K, C238W, C141P, C238R, C238F, C238P -> [stability, disulfide] --- V274W, L194C, H179L, C242D, C176Q, C176V, G245D, G245P, V274P, C176F, G245A, V274Q, C242F, L194K, V274S, C238Y, R175G, H179K, H179N, C242P, R181P, C238T, L194N, C176Y, C176P, H179T, M246H, V274E, C176S, H179R, E180P, H179I, S240P, G245V, G245Q, C238Q, L194A, C176R, H179V, C238N, G245M, M246N, G245R, R175W, C238A, C238H, C242W, M246D, M246S, M246K, C182P, M246F, V274R, M246W, C176A, L194P, L194Y, L194G, C238R, G245F, C238P, C176N, L194R, H179Q, V274H, C238I, G245N, R175F, G245I, C238V, C176W, R175Y, M246Y, G245C, L194D, H178E, C238G, L194E, H179P, M246R, C176H, V274D, R175H, R175D, L194S, H179S, H179W, C176K, H179Y, C238F, H179G, V274F, C242Y, L194W, C238M, C176I, G245Y, C176M, G245T, V274G, G245S, G245W, C242H, G245L, C176G, V274K, R175E, G245E, H179A, N239E, C238L, L194Q, H179F, C238K, C176T, H179M, G245H, C176L, L194T, C238W, M246G, G245K, V274Y -> [stability, functional site] --- Y126A, S185P, Y126Q, Y126C, Y126S, Y126T, Y126V, T284P, Y126N, Y126D, Y126R, Y126G, Y126P, Y126K, S149P, T211P, Y126E -> [stability, ptm] --- D281S, H178L, K120N, D281G, R273P, K120E, M243T, N239Y, K120A, R248C, H178N, C275T, H178Y, K120P, C275R, G244D, K120H, K120G, G244V, H178Q, K120Q, R248P, C275W, R273H, D281A, N239M, C275K, C275Y, K120D, R248G, R248L, W91S, G244C, G244E, H178D, H178P -> [local_interactions, long_range] --- C242W, D281C -> [local_interactions, disulfide] --- C242W, H178N, N239M, H178Y, H178L, H178Q, S240W, S240Y, S240F, H178D, N239Y, M243T, H178P -> [local_interactions, functional site] --- K120C, C238M, C124A, C238Q, C238S, C238N, C238I, C242S, H179C, C238V, C238A, C238Y, G245C, C124G, C238H, V272C, C238T, C238E, C238G, Q144C, C238L, C124S, C238K, W146C, C238W, C242G, C238R, C242A, C238F -> [long_range, disulfide] --- L194C, H179L, R181D, H179D, R175M, C176Q, C182K, H178S, C176V, G245D, C238S, G245P, N239W, C182S, C176F, G245A, H178N, R175P, M243W, R181V, R181Q, E180Q, C238Y, R175A, R175G, C182W, H179K, H179N, L194V, E180K, C176E, R175N, R181P, C238T, M243V, M246P, L194N, C176Y, H178I, E180R, H179T, M243R, M243C, M246H, N239L, C182G, H178K, R181M, C182H, C176S, N239R, H179R, C182I, E180P, H179I, R181I, N239I, M243G, G245V, G245Q, E180L, R181H, R175T, E180H, N239V, C238Q, L194A, M246A, C176R, H179E, H179V, C238N, P177K, M243H, G245M, M243K, M246N, R181Y, C182A, G245R, H178Y, E180C, C238A, L194H, C182L, P177E, E180A, H178C, H178R, C238H, M246C, H178A, M246D, M246S, R181G, C182F, M246K, R181S, M246F, M243E, E180T, M243N, P177F, H178F, M246W, C176A, P177M, L194P, C182N, N239H, L194G, C242G, C238R, C242A, G245F, R175Q, H178P, C176N, R181N, P177H, C182Y, H178L, E180G, N239Q, E180F, H179Q, N239Y, C238I, M243T, G245N, P177R, M246T, G245I, C238V, C176W, C182M, M246Y, R175I, R175S, G245C, E180S, L194D, M243D, H178E, R181F, H178V, R175C, M243S, C238G, P177Q, M246Q, P177I, R181T, L194E, H179P, M246R, H178W, H178M, H178T, E180N, R181W, C176H, M246V, R175H, R181C, R175D, L194S, N239F, N239M, H179S, H179W, M243A, C176K, H179Y, C238F, H179G, H178D, S240G, M243Q, N239K, C238M, M243F, C176I, P177L, M243P, G245Y, P177W, R175V, C176M, G245T, E180I, G245S, H179C, C242S, R175L, G245W, G245L, P177Y, E180W, C176G, R181L, R181E, R175E, C182Q, C238E, G245E, H179A, C182V, M243Y, H178Q, C182E, N239E, H178G, E180D, C238L, C182T, L194Q, M246E, H179F, C182R, C238K, C176T, H179M, G245H, C176L, L194T, C238W, M246G, R181A, G245K, E180M, P177V, E180Y -> [long_range, functional site] --- S149V, T211R, S149E, T211V, S149P, S183K, S149T, T150Q, T150W, T150K, S99N, Y126C, S149D, T150Y, T150F, S149W, S183F, S183P, Y126P, S149N, S183I, T211H, Y126A, T211Q, T211K, Y126K, S185D, S149Y, S149I, S99H, T211S, T211M, T150V, S183T, T211F, S183D, Y126G, S106G, S185Y, S185H, S183V, S149C, T150E, S183Y, Y126H, S99L, S183Q, T211L, S185N, T211E, S269G, T150I, S149Q, Y220M, S149H, T211C, Y126E, Y126T, S99M, S183L, S99K, S99C, S183R, T150R, S99D, T150S, S185V, S99F, S99G, S99I, S183M, S149F, S185M, S149K, Y126N, S149L, S185C, S183G, S185W, S183C, S183N, S185P, S185T, Y220L, T150G, S185G, T150L, T211A, S185F, S149M, Y126Q, Y126S, S185R, T211G, Y126R, S99P, S185I, S185E, T150M, S99R, S215G, S183E, S185K, T211W, S99W, S99Q, T150C, T150H, S185Q, S185L, S149R, T150A, T211I, Y126V, T211Y, S183W, S99V, Y126D, S183H, S99E -> [long_range, ptm] --- C242D, C242Y, C238M, C238Q, C238S, C238N, C238I, C242N, C242T, C242M, C242K, H179C, C242Q, C242S, C238D, C238V, C238A, C242F, C242H, C242V, C238Y, G245C, C242P, C238H, C242I, C242W, C238T, C238E, C238G, C242E, C238L, C242L, C238K, C242R, C238W, C242G, C238R, C242A, C238F, C238P -> [disulfide, functional site] +-- C242W, G279W, R273P, G279H, G244V, D281P, R248P -> [stability, local_interactions] +-- G245N, G226P, I251N, I195W, V203W, F134H, H179Q, L111E, P151H, K132F, N239E, V143G, L111R, V197K, V217Y, C176T, G262P, D208G, C238Y, Y220N, S94L, A159K, V272P, H179W, F270Q, L194D, E286P, G154I, N200G, N131I, G245L, G245A, I255H, Y163T, C238V, S185P, S94R, S94M, R282G, F270T, C238A, H179A, V218N, F113S, F113P, M160Y, Y236G, Y163Q, A159F, H179T, L194G, H179F, I251S, F134C, L289P, L130E, Y126N, E180P, P151F, S94E, I251E, M246F, Y126P, Y205C, A159H, S94H, F134T, H179R, G199P, C135K, V203N, V122P, G244T, F270P, A159E, Y205A, Y107A, Y220G, S94K, C176G, L111T, V203K, S94N, I251H, L137G, I255G, L194Q, V197G, I251C, I251A, H193R, K132Y, S127P, C176H, S96P, F134V, I255P, C176I, V197N, G262V, R213G, G199I, Y107E, G226V, Y234A, V218S, V218D, F270C, V218G, I255T, L111P, M169P, R213P, S127I, F134R, S94W, M160G, V173P, L194T, Y234P, E171P, H178E, H193P, L111N, I232E, C238Q, L111H, C135R, V216S, C238I, S127Y, P151I, G245K, V217W, Y236A, Y163D, F270N, Y236K, G245Q, V197S, F113C, C176Q, A159W, L194A, Y205Q, P151G, V272S, P151K, V203Y, V173N, Y103G, M160W, F134A, Y126S, G262I, Y234E, C176Y, S94D, R158F, G245Y, Y163A, C176V, Y220V, H179G, Y205P, G226T, F113A, Y220C, Y205E, I232P, Y234S, H179V, R267D, V203D, W146D, Y163N, C176L, Y220T, C176S, I232S, L188P, M246K, S127Q, F270H, C238L, Y236I, G154S, G245S, R158G, Y234N, V218P, Y107N, L194P, Y220S, I255D, H179P, Y234D, V197A, M246N, C135W, M160D, V272D, V217K, Y220Q, H179I, Y234V, M237Y, L111Y, G245E, G245I, P190G, Y220D, Y236T, R158P, R175G, P142H, V143P, F270E, P151Y, G226A, Y236H, H168P, I251G, R273P, F113R, Y107R, V216G, V203G, C238F, F134S, F270D, Y107D, L111D, M246Y, A138P, G187V, R213S, L206P, M160P, I255N, L111F, C176F, G154T, I255E, R248V, E286G, I232G, H179M, Y220P, Y163G, I255A, Y234T, R248P, P151R, Y234K, H179L, V143N, Y163K, Y126Q, H193W, F113V, M246H, L111Q, Y205D, V203P, Y234Q, P278S, L111W, V197D, V217F, G245T, I251P, V143A, Y236E, V173G, H179K, V173S, I251Q, R248I, R282P, Y205W, R213D, H179N, R156P, Y236S, S94F, W146P, I232D, R267P, F113K, K132W, Y163R, S127H, N131V, C176M, G245R, Y126K, M246D, A159Y, G244P, L111C, R196P, Y107C, Y205G, S127R, R175D, M133R, V272N, Y126R, S94Q, F134E, V216P, L194N, H179Y, A159R, Y220K, Y126L, V197P, G187I, G244V, F270A, P151W, R175H, K139P, V216N, F113Q, G244I, V217R, Y220A, I251D, Y236P, Y126G, G226C, E198P, Y163E, F134Q, Y107G, K164P, L194E, G199V, L194C, C176A, F134D, M237P, Y126C, Y205R, S127W, P142G, G245H, E204P, G245V, Y205N, R249G, R158D, R282H, Y236R, L111S, V197F, Y236Q, R249P, R196D, G245C, G245W, V173D, C238M, L130P, V203R, M246S, G187P, F134K, Y205V, V216D, Y107P, V147K, Y163C, R181P, Y234C, Y236N, F134N, N235Y, E287P, Q136P, G154V, N235F, Y205S, C176W, R158N, V197H, Y220E, F270V, Y205K, V143D, Y163P, I255Q, R158H, A159P, V203H, Y103P, F113N, Y126V, M246G, Y234G, F270K, Y107Q, R282D, Y236C, P278G, G154P, C135Y, G245M, F113I, S149P, F113E, C238R, F270G, C135H, V197W, Y205T, C238H, C238N, Y234R, I255C, C238T, F134P, R158E, Y126D, G226I, V203F, C176K, R158W, G245P, Y236D, A159D, V217H, I195Y, C238W, Y126E, M246W, V197Y, V143S, I255S, L111A, R110P, W146G, C135F, Y126T, C238K, F113G, C135E, F113T, Y163S, L130G, V147W, F270S, R158Y, Y107K, F270R, I195F, C176N, Y107S, V272A, L194S, M246R, G245D, P151Q, E285P, G245F, S94Y, C176R, P151E, C238G, Y126A, I195R, R175E, Y236V, A159Q, H179S, F134G, G112P, I232A, Y107T, V197R, L130D, L111G, F113D, V272G, Y205I, S127K -> [stability, long_range] +-- C141Q, C238L, C242H, C238W, C141K, C238V, C238R, C238G, C238Q, C238P, C238A, C141Y, C242P, C141W, C238F, C242F, C238I, C238H, C141R, C242W, C238N, C238K, C238T, C141E, C238Y, C141P, C141G, C242D, C242Y, G245C, C141H, C141F, C238M, C124P -> [stability, disulfide] +-- H179M, G245N, L194T, V274D, V274P, R181P, H178E, V274K, H179Q, H179L, N239E, L194R, C176W, C238Q, C238P, C238I, M246H, V274R, G245K, C176T, G245T, C238Y, R175Y, H179K, G245Q, M246G, H179W, C176Q, L194D, R175W, L194A, H179N, G245L, C182P, L194Y, G245A, R175F, G245M, C238V, C176Y, C238R, C238A, C176M, G245Y, H179A, C176V, C242P, G245R, H179G, C238H, V274S, M246D, C238N, C238T, V274G, H179T, L194G, L194K, H179F, R175D, H179V, C176K, C242D, E180P, V274E, M246F, L194N, C176L, H179Y, C176S, G245P, M246K, H179R, V274Y, C238L, G245S, V274F, C176P, C238W, L194P, H179P, V274Q, R175H, M246W, C242F, M246N, C238K, H179I, C176G, G245E, G245I, V274W, V274H, C242Y, R175G, L194Q, C176N, L194E, L194W, L194C, C176A, S240P, L194S, C176H, C242H, M246R, G245D, G245F, G245H, C176R, C238G, G245V, C176I, C238F, C242W, M246Y, R175E, H179S, G245C, G245W, C238M, C176F, M246S -> [stability, functional site] +-- Y126N, Y126E, Y126T, Y126R, S185P, Y126Q, T284P, Y126P, T211P, Y126C, Y126V, Y126G, Y126K, Y126D, Y126S, S149P, Y126A -> [stability, ptm] +-- H178P, G244E, K120G, H178N, G244V, R248P, K120H, K120A, C275K, R248L, R248C, K120D, D281G, C275W, W91S, C275R, R273P, G244C, H178D, C275Y, K120P, D281A, M243T, N239M, R273H, K120N, N239Y, C275T, R248G, D281S, H178Q, K120Q, H178L, K120E, H178Y, G244D -> [local_interactions, long_range] +-- D281C, C242W -> [local_interactions, disulfide] +-- H178P, C242W, S240F, S240W, H178Q, H178L, H178N, S240Y, M243T, N239M, H178Y, N239Y, H178D -> [local_interactions, functional site] +-- H179C, C238L, K120C, C238W, C238V, C124G, C238G, C238R, C238Q, C238A, Q144C, C238F, C238I, C238H, C238N, C238K, C238T, C242G, C124S, C238S, C238Y, V272C, W146C, C124A, C242S, G245C, C238M, C242A, C238E -> [long_range, disulfide] +-- H179M, G245N, L194T, R175C, P177E, H178E, R181E, R181P, C182I, H179Q, H179L, N239E, H178W, C176W, C238Q, S240G, E180Y, E180N, C182W, M243E, M246E, H179E, M246A, H178K, C238I, M246H, R181N, R181M, M243N, P177V, E180A, G245K, M246P, M243K, C176T, H178M, C242A, G245T, C238Y, H179D, C182R, C182N, H178R, H179K, G245Q, M246G, R175V, C176Q, H179W, L194D, P177R, L194A, P177Y, R175L, H178P, E180G, R175I, E180I, R181C, H179N, R181Y, G245L, H178N, H179C, P177I, H178I, G245A, G245M, R175S, C238V, C176Y, C238R, C182M, E180T, R175M, C238A, C176M, G245Y, H179A, C176V, G245R, H179G, H178A, C238H, M246D, C182Y, R181L, C182H, C238N, M243Y, L194V, C238T, R175Q, M246V, H179T, L194G, N239M, H179F, R181A, N239L, R175D, H179V, C176K, M243V, E180P, H178Q, H178L, M246F, M243Q, L194N, C176L, H179Y, M243G, C176S, M243D, H178Y, P177K, P177W, G245P, M246K, N239F, H179R, R181W, N239I, E180M, C238L, G245S, N239W, R175A, H178F, C238W, C182E, C182F, C182G, L194P, R181Q, H179P, R175H, C182A, C176E, M246W, M243S, N239Q, P177H, M246N, N239H, H178T, N239K, H178D, C182T, C238K, M243T, C242G, M243C, H179I, R175N, C176G, C182Q, N239Y, G245E, G245I, E180H, R175G, R181S, L194Q, N239V, E180L, E180R, R175T, E180S, P177L, C176N, L194E, P177M, C182S, L194C, C176A, M243W, R181V, L194S, C176H, P177F, E180D, M246T, M246R, E180Q, G245D, H178C, G245F, G245H, C176R, C238G, C182K, G245V, R181D, C182V, M243R, R181F, R175P, C176I, L194H, C238F, M243H, R181I, H178G, E180W, M246Y, H178V, R175E, M243A, H179S, C238S, M243P, E180C, R181T, E180F, N239R, M246C, C242S, G245C, P177Q, G245W, R181H, M243F, H178S, C238M, E180K, C238E, C176F, M246Q, R181G, C182L, M246S -> [long_range, functional site] +-- S185K, S149C, S183N, T211M, S215G, S149Y, S149H, S185T, T150C, S149R, Y126Q, S149I, S185F, S99E, T211Q, S183I, T150Q, S149W, T150G, S149E, S185V, S183P, T150I, S149N, S185W, Y126V, S185C, S99H, T211H, T211F, S183Y, S183G, S99P, S183Q, Y126S, S149P, S99D, S185P, T150V, Y220L, S269G, S183M, S149T, Y126K, T211Y, S99G, S185H, S185L, Y126D, T150F, T211E, S99L, S185M, T211G, T211W, Y126N, S99M, Y126R, Y126P, T211S, T150K, S185E, S183W, S185D, S185G, T150M, T211C, T150R, S185R, T150E, T211V, S149Q, S99C, T150Y, Y126E, Y126H, S183E, S183D, S183K, T211I, S99I, S99W, T211L, S99N, S149D, T150W, S149F, Y126T, S149L, Y126G, S183T, S106G, S183F, S149V, Y220M, S149M, S149K, T150S, S183V, S185Q, S185Y, S99K, S183C, T211K, T150H, Y126C, S99F, T150L, S183L, S183R, Y126A, S99R, T211A, T211R, S99V, S99Q, T150A, S185I, S185N, S183H -> [long_range, ptm] +-- C242R, C242L, H179C, C238L, C242H, C238W, C238V, C242E, C242M, C238R, C238G, C238Q, C238P, C242K, C238A, C242P, C242I, C238F, C242F, C238I, C238H, C242W, C238N, C238K, C242T, C238T, C242G, C238S, C238Y, C238D, C242D, C242S, C242Y, G245C, C242N, C238M, C242A, C242Q, C242V, C238E -> [disulfide, functional site] -- R273P, G244V, R248P -> [stability, local_interactions, long_range] -- C242W -> [stability, local_interactions, disulfide] --- C238T, C238K, C238N, C238G, C238M, C238V, C238A, G245C, C238Q, C238W, C238Y, C238R, C238F, C238I, C238L, C238H -> [stability, long_range, disulfide] --- L194C, H179L, C176Q, C176V, G245D, G245P, C176F, G245A, C238Y, R175G, H179K, H179N, R181P, C238T, L194N, C176Y, H179T, M246H, C176S, H179R, E180P, H179I, G245V, G245Q, C238Q, L194A, C176R, H179V, C238N, G245M, M246N, G245R, C238A, C238H, M246D, M246S, M246K, M246F, M246W, C176A, L194P, L194G, C238R, G245F, C176N, H179Q, C238I, G245N, G245I, C238V, C176W, M246Y, G245C, L194D, H178E, C238G, L194E, H179P, M246R, C176H, R175H, R175D, L194S, H179S, H179W, C176K, H179Y, C238F, H179G, C238M, C176I, G245Y, C176M, G245T, G245S, G245W, G245L, C176G, R175E, G245E, H179A, N239E, C238L, L194Q, H179F, C238K, C176T, H179M, G245H, C176L, L194T, C238W, M246G, G245K -> [stability, long_range, functional site] --- Y126A, S185P, Y126Q, Y126C, Y126S, Y126T, Y126V, Y126N, Y126D, Y126R, Y126G, Y126P, Y126K, S149P, Y126E -> [stability, long_range, ptm] --- C242D, C242Y, C238M, C238Q, C238N, C238I, C238V, C238A, C242F, C242H, C238Y, G245C, C242P, C238H, C242W, C238T, C238G, C238L, C238K, C238W, C238R, C238F, C238P -> [stability, disulfide, functional site] --- H178N, N239M, H178Y, H178L, H178Q, H178D, N239Y, M243T, H178P -> [local_interactions, long_range, functional site] +-- C238V, C238N, C238R, C238G, C238Q, C238K, G245C, C238T, C238A, C238L, C238M, C238F, C238W, C238I, C238H, C238Y -> [stability, long_range, disulfide] +-- H179M, G245N, L194T, R181P, H178E, H179Q, H179L, N239E, C176W, C238Q, C238I, M246H, G245K, C176T, G245T, C238Y, H179K, G245Q, M246G, H179W, C176Q, L194D, L194A, H179N, G245L, G245A, G245M, C238V, C176Y, C238R, C238A, C176M, G245Y, H179A, C176V, G245R, H179G, C238H, M246D, C238N, C238T, H179T, L194G, H179F, R175D, H179V, C176K, E180P, M246F, L194N, C176L, H179Y, C176S, G245P, M246K, H179R, C238L, G245S, C238W, L194P, H179P, R175H, M246W, M246N, C238K, H179I, C176G, G245E, G245I, R175G, L194Q, C176N, L194E, L194C, C176A, L194S, C176H, M246R, G245D, G245F, G245H, C176R, C238G, G245V, C176I, C238F, M246Y, R175E, H179S, G245C, G245W, C238M, C176F, M246S -> [stability, long_range, functional site] +-- Y126N, Y126E, Y126T, Y126R, S185P, Y126Q, Y126P, Y126C, Y126V, Y126G, Y126K, Y126D, Y126S, S149P, Y126A -> [stability, long_range, ptm] +-- C238L, C242H, C238W, C238V, C238R, C238G, C238Q, C238P, C238A, C242P, C238F, C242F, C238I, C238H, C242W, C238N, C238K, C238T, C238Y, C242D, C242Y, G245C, C238M -> [stability, disulfide, functional site] +-- H178P, H178Q, H178L, H178N, M243T, N239M, H178Y, N239Y, H178D -> [local_interactions, long_range, functional site] -- C242W -> [local_interactions, disulfide, functional site] --- C238M, C238Q, C238S, C238N, C238I, H179C, C242S, C238V, C238A, C238Y, G245C, C238H, C238T, C238E, C238G, C238L, C238K, C238W, C242G, C238R, C242A, C238F -> [long_range, disulfide, functional site] --- C238T, C238K, C238N, C238G, C238M, C238V, C238A, G245C, C238Q, C238W, C238Y, C238R, C238F, C238I, C238L, C238H -> [stability, long_range, disulfide, functional site] +-- H179C, C238L, C238W, C238V, C238R, C238G, C238Q, C238A, C238F, C238I, C238H, C238N, C238K, C238T, C242G, C238S, C238Y, C242S, G245C, C238M, C242A, C238E -> [long_range, disulfide, functional site] +-- C238V, C238N, C238R, C238G, C238Q, C238K, G245C, C238T, C238A, C238L, C238M, C238F, C238W, C238I, C238H, C238Y -> [stability, long_range, disulfide, functional site] - We aggregated all the variants that have at least one of the MAVISp modules with a predicted damaging effect (except for PTM.function) and retained only the ones with a REVEL score higher than 0.5 for a total of 652 variants which could be of interest for further investigation: -- ['P92A', 'P92S', 'L93V', 'S94L', 'S94P', 'S94T', 'S95F', 'S96P', 'S96Y', 'V97A', 'V97D', 'V97F', 'V97I', 'P98H', 'P98L', 'P98S', 'S99F', 'S99P', 'T102I', 'Y103C', 'Y103H', 'G105A', 'G105C', 'G105D', 'G105R', 'G105S', 'G105V', 'S106R', 'Y107C', 'Y107D', 'Y107H', 'Y107S', 'G108C', 'G108D', 'G108S', 'G108V', 'F109C', 'F109I', 'F109S', 'F109V', 'R110G', 'R110H', 'R110L', 'R110P', 'R110S', 'L111P', 'L111Q', 'L111R', 'F113C', 'F113L', 'F113S', 'H115Y', 'S116C', 'S116F', 'G117A', 'G117E', 'G117R', 'G117V', 'T118A', 'A119G', 'K120E', 'K120M', 'K120N', 'K120Q', 'K120T', 'S121F', 'V122L', 'V122M', 'T123I', 'C124F', 'C124G', 'C124R', 'C124S', 'C124Y', 'T125A', 'T125K', 'T125M', 'T125P', 'T125R', 'Y126C', 'Y126D', 'Y126H', 'Y126N', 'Y126S', 'S127C', 'S127F', 'S127P', 'S127T', 'S127Y', 'P128L', 'P128S', 'A129D', 'L130F', 'L130H', 'L130P', 'L130R', 'L130V', 'N131H', 'N131I', 'N131K', 'N131S', 'N131Y', 'K132E', 'M133K', 'M133R', 'F134C', 'F134I', 'F134L', 'F134S', 'F134V', 'C135F', 'C135G', 'C135R', 'C135S', 'C135W', 'C135Y', 'Q136E', 'Q136H', 'Q136K', 'Q136L', 'Q136P', 'Q136R', 'L137P', 'L137Q', 'L137V', 'A138D', 'A138P', 'A138T', 'A138V', 'K139E', 'K139N', 'K139Q', 'K139T', 'T140A', 'T140I', 'C141F', 'C141G', 'C141R', 'C141S', 'C141W', 'C141Y', 'P142A', 'P142H', 'P142L', 'P142R', 'P142S', 'V143A', 'V143E', 'V143G', 'Q144H', 'Q144K', 'Q144L', 'Q144P', 'Q144R', 'L145P', 'L145R', 'W146C', 'W146G', 'W146S', 'V147F', 'V147G', 'V147I', 'D148V', 'D148Y', 'S149P', 'P151A', 'P151H', 'P151L', 'P151R', 'P151S', 'P152A', 'P152S', 'G154A', 'G154C', 'G154D', 'G154S', 'G154V', 'T155I', 'T155N', 'T155P', 'R156G', 'R156H', 'R156L', 'R156P', 'R156S', 'V157A', 'V157D', 'V157F', 'V157G', 'R158C', 'R158G', 'R158H', 'R158L', 'R158P', 'R158S', 'A159D', 'A159P', 'A159T', 'A159V', 'M160K', 'M160R', 'M160T', 'M160V', 'I162F', 'I162N', 'I162S', 'Y163C', 'Y163D', 'Y163H', 'Y163N', 'Y163S', 'K164E', 'K164M', 'K164N', 'K164Q', 'K164T', 'Q165E', 'Q165P', 'S166L', 'S166P', 'S166T', 'Q167H', 'Q167K', 'Q167L', 'Q167R', 'H168D', 'H168L', 'H168N', 'H168P', 'H168Q', 'H168R', 'H168Y', 'M169T', 'M169V', 'T170A', 'T170K', 'T170M', 'T170R', 'T170S', 'E171A', 'E171D', 'E171G', 'V172A', 'V172D', 'V172F', 'V172G', 'V173A', 'V173E', 'V173G', 'V173M', 'R174G', 'R174M', 'R174S', 'R174T', 'R174W', 'R175C', 'R175G', 'R175H', 'R175L', 'R175P', 'R175S', 'C176F', 'C176G', 'C176R', 'C176S', 'C176W', 'C176Y', 'P177H', 'P177L', 'P177R', 'H178D', 'H178L', 'H178N', 'H178P', 'H178Q', 'H178Y', 'H179D', 'H179L', 'H179N', 'H179P', 'H179Q', 'H179R', 'H179Y', 'E180D', 'E180G', 'E180K', 'E180Q', 'R181C', 'R181G', 'R181H', 'R181L', 'R181P', 'R181S', 'C182R', 'C182W', 'C182Y', 'S183L', 'D184E', 'D184G', 'D184H', 'D184Y', 'S185R', 'D186E', 'D186G', 'D186H', 'D186V', 'G187C', 'G187D', 'G187R', 'G187S', 'G187V', 'L188Q', 'L188V', 'A189D', 'A189G', 'A189P', 'P190A', 'P190H', 'P190L', 'P190R', 'P190S', 'P190T', 'P191A', 'P191H', 'P191L', 'P191R', 'P191S', 'Q192H', 'Q192K', 'Q192L', 'Q192R', 'H193D', 'H193L', 'H193N', 'H193P', 'H193Q', 'H193R', 'H193Y', 'L194H', 'L194P', 'L194R', 'L194V', 'I195F', 'I195N', 'I195S', 'R196G', 'R196L', 'R196P', 'R196Q', 'V197A', 'V197E', 'V197G', 'V197L', 'V197M', 'E198D', 'E198G', 'E198K', 'E198Q', 'G199A', 'G199E', 'G199R', 'G199V', 'N200I', 'N200S', 'N200Y', 'L201S', 'R202H', 'R202L', 'R202P', 'V203A', 'V203E', 'V203L', 'V203M', 'E204A', 'E204G', 'E204K', 'Y205C', 'Y205D', 'Y205H', 'Y205N', 'Y205S', 'D207A', 'D207G', 'D207Y', 'D208E', 'D208G', 'D208H', 'D208V', 'D208Y', 'R209G', 'R209I', 'R209S', 'R209T', 'T211A', 'T211I', 'T211N', 'T211P', 'T211S', 'R213G', 'R213L', 'R213P', 'R213Q', 'H214L', 'H214R', 'H214Y', 'S215C', 'S215G', 'S215I', 'S215T', 'V216A', 'V216E', 'V216G', 'V217G', 'V217L', 'V218A', 'V218E', 'V218G', 'P219S', 'Y220C', 'Y220D', 'Y220H', 'Y220N', 'Y220S', 'E221D', 'E221G', 'E221K', 'P222L', 'P222Q', 'E224A', 'E224D', 'E224G', 'E224K', 'E224Q', 'V225D', 'V225F', 'V225G', 'G226A', 'G226D', 'G226S', 'G226V', 'S227P', 'D228A', 'D228G', 'D228H', 'D228V', 'D228Y', 'C229G', 'C229S', 'T230A', 'T230P', 'T230S', 'T231A', 'T231I', 'T231S', 'I232F', 'I232N', 'I232S', 'I232T', 'H233D', 'H233L', 'H233P', 'H233Q', 'H233R', 'H233Y', 'Y234C', 'Y234D', 'Y234H', 'Y234N', 'Y234S', 'N235H', 'N235I', 'N235K', 'N235S', 'N235Y', 'Y236C', 'Y236D', 'Y236H', 'Y236N', 'Y236S', 'M237K', 'M237R', 'M237T', 'M237V', 'C238F', 'C238G', 'C238R', 'C238S', 'C238W', 'C238Y', 'N239H', 'N239I', 'N239K', 'N239Y', 'S240G', 'S241P', 'C242F', 'C242G', 'C242R', 'C242S', 'C242W', 'C242Y', 'M243K', 'M243R', 'M243T', 'M243V', 'G244A', 'G244C', 'G244D', 'G244R', 'G244S', 'G244V', 'G245A', 'G245C', 'G245D', 'G245R', 'G245S', 'G245V', 'M246K', 'M246R', 'M246T', 'M246V', 'N247D', 'N247I', 'N247T', 'R248G', 'R248L', 'R248P', 'R248Q', 'R249G', 'R249M', 'R249S', 'R249T', 'R249W', 'P250A', 'P250S', 'I251F', 'I251N', 'I251S', 'I251T', 'I251V', 'L252H', 'L252P', 'T253P', 'I254S', 'I255F', 'I255N', 'I255S', 'I255T', 'I255V', 'L257P', 'L257Q', 'L257R', 'E258G', 'D259E', 'D259H', 'D259V', 'D259Y', 'S260C', 'S260F', 'S260P', 'S260T', 'S260Y', 'S261G', 'G262C', 'G262D', 'G262R', 'G262S', 'G262V', 'L264R', 'L265P', 'G266E', 'G266R', 'G266V', 'R267G', 'R267L', 'R267P', 'R267Q', 'R267W', 'S269G', 'S269I', 'S269N', 'S269R', 'S269T', 'F270C', 'F270I', 'F270L', 'F270S', 'F270V', 'V272A', 'V272E', 'V272G', 'R273C', 'R273G', 'R273H', 'R273L', 'R273P', 'R273S', 'V274D', 'V274F', 'V274G', 'C275F', 'C275G', 'C275R', 'C275S', 'C275W', 'C275Y', 'A276G', 'A276P', 'A276T', 'C277F', 'C277G', 'C277R', 'C277S', 'C277W', 'C277Y', 'P278A', 'P278H', 'P278L', 'P278R', 'P278S', 'P278T', 'G279A', 'G279E', 'G279R', 'G279V', 'G279W', 'R280G', 'R280I', 'R280K', 'R280S', 'R280T', 'D281A', 'D281G', 'D281V', 'D281Y', 'R282G', 'R282L', 'R282P', 'R282Q', 'R282W', 'R283P', 'T284I', 'T284P', 'E285A', 'E285D', 'E285G', 'E286A', 'E286D', 'E286G', 'E287A', 'E287G', 'L289P'] - We aggregated all the variants that have at least one of the MAVISp modules with a predicted damaging effect (except for PTM.function) and retained only the ones with a Demask delta fitness >= 0.25 or <= -0.25 for a total of 2044 variants which could be of interest for further investigation: diff --git a/dot_plot/examples_v2/simple_mode_foldetta/mechanistic_indicators_out.csv b/dot_plot/examples_v2/simple_mode_foldetta/mechanistic_indicators_out_aggregated.csv similarity index 100% rename from dot_plot/examples_v2/simple_mode_foldetta/mechanistic_indicators_out.csv rename to dot_plot/examples_v2/simple_mode_foldetta/mechanistic_indicators_out_aggregated.csv diff --git a/dot_plot/examples_v2/simple_mode_foldetta_thermompnn/dot_plot.pdf b/dot_plot/examples_v2/simple_mode_foldetta_thermompnn/dot_plot.pdf index 5343b4d..9d21584 100644 Binary files a/dot_plot/examples_v2/simple_mode_foldetta_thermompnn/dot_plot.pdf and b/dot_plot/examples_v2/simple_mode_foldetta_thermompnn/dot_plot.pdf differ diff --git a/dot_plot/examples_v2/simple_mode_foldetta_thermompnn/log.txt b/dot_plot/examples_v2/simple_mode_foldetta_thermompnn/log_germline.txt similarity index 86% rename from dot_plot/examples_v2/simple_mode_foldetta_thermompnn/log.txt rename to dot_plot/examples_v2/simple_mode_foldetta_thermompnn/log_germline.txt index ddbd262..9ed6528 100644 --- a/dot_plot/examples_v2/simple_mode_foldetta_thermompnn/log.txt +++ b/dot_plot/examples_v2/simple_mode_foldetta_thermompnn/log_germline.txt @@ -54,28 +54,28 @@ Summary of the effects. - 323 variants are damaging for Functional site ['cofactor'] module See csv file for details. - No classification for Long Range-PSN available yet. - Variants with multiple effects: --- G279H, G244V, R273P, G279W, D281P, C242W, R248P -> [stability, local_interactions] --- R158G, G245Q, Y205T, M160Y, F270H, V173G, Y234G, C176I, N235Y, R174P, I232E, V203W, V147H, H179L, P151E, P151I, Q144G, Y107L, Y163Q, Y220H, A159F, P278G, L130W, M160D, V218P, L194E, V218G, D208G, Y163H, L111R, I232S, V97G, Y205W, R248P, G244P, F270T, S94K, M133Y, V216N, L130T, Y236R, S127K, Y163G, I251A, Y163E, V216D, C176S, Y163S, F113C, P151F, P278S, L194A, M246N, Y236E, H179Q, G187V, G245F, V272P, H179T, I255D, R158N, V143P, L111H, C176Q, L194P, F113Q, Q136P, C135F, R174Q, G245E, L130A, Y126H, S94W, Y163R, F270V, Y107Q, Y107R, F134V, Y205D, V217Y, C176L, S127P, T211M, G245M, Y107S, R158E, Y236D, S94E, R181P, L130S, C176A, Y107A, Y107I, R110D, K132F, E286G, S94H, I255T, Y205Q, A159E, R273G, M246K, S94M, R249G, V143D, L111S, G245S, V203Y, G245L, V203N, A159D, M237R, M160P, C176T, Y107T, L130E, Y220Q, V216T, G245Y, Y163T, G245V, H179P, I255S, S185P, I195W, L194H, H179V, C176M, C238A, M160R, M246D, H179F, I232G, I232R, S127M, V203H, T211E, Y220I, Y234A, C176R, R156P, C238G, Y126K, P142H, R267D, F113A, Y220G, Y234E, Y107K, I232D, R158P, Y234C, C238H, I195Y, E204P, C238Y, G244I, T211R, C176G, V218N, S94R, L194N, D208K, V216G, V272N, V197H, S127W, L111G, Y126G, A159P, V173P, G187I, Y205R, R175E, R248V, L111Y, Y236K, L188P, A159R, Y236Q, Y220M, Y205N, F113S, A159Y, G199P, C135E, F113D, V147W, C135K, F270K, S127F, F270Q, F134G, S127G, V147R, S127I, L130P, R213G, L111A, H179W, H179A, M160W, I251D, C135R, C238M, P151Y, F270S, V218A, L194D, L111D, Y126E, V122P, T211K, M246G, S94D, S94L, C238V, Y126M, R175H, C238F, G226C, H179R, I255G, G245K, R249P, H168P, G112P, F113R, F134H, T211Q, R213D, Y126Q, G226T, S127Y, T211A, R156G, G154V, A159W, V197F, H179S, F113N, R174I, R174S, K139P, V203F, I255Q, Y205K, Y236G, F113V, H179N, A159Q, H193P, V143G, F134N, Y220V, G262P, G245A, Y126P, M246H, C176K, M246F, S94F, Y163D, V217F, V197G, F270P, I255H, V272D, Y163N, H179I, G245P, R110P, C238W, Y236T, L130N, T230G, C176N, V272G, Y205I, P142E, H179M, Y236N, V173S, Y234R, Y163M, R267G, F134P, L194S, R213S, G244V, Y234Q, M169P, Y220D, L289P, Y107E, M160N, I251H, L130Y, E286P, L137S, F134E, G245D, G154I, S127E, L111E, H178E, L194Q, H179G, K164P, V217R, F270N, T211G, G244T, K132Y, Y236V, E285P, F134R, L194T, Y126I, Y236A, M237P, R196P, F270D, C238L, Y163C, Y220C, Y236L, R156D, R158W, Y236C, V97D, H179K, R267N, Y205V, Y126A, Y220T, R273P, L111P, M237K, Y234V, R174A, Y107G, C176V, C176W, Y220K, I232H, F270R, L111F, V143N, P151G, P151S, I251C, F113K, G154T, F134T, V203K, R174D, M160G, Y205M, Y107P, F113P, V197R, Y126R, V203D, Q144P, Y107N, V203P, Y163K, Y205S, Y236P, V197W, Y236S, F134Q, R202P, Y126C, Y126L, K132W, V217K, G245N, C135N, R282H, F113G, Y234T, P151K, S94P, V197P, I255A, L137N, V203R, V197N, I251T, V197S, T211Y, L130R, A138P, M246R, R267E, Y126T, C238R, Q136D, V197Y, R158F, G187P, Y205L, G154S, R175G, V197K, R282G, G199V, L137G, Y103P, F134S, S94Q, H179Y, R267P, S127H, L130G, V217H, Y205E, V197A, I255C, G226A, N235F, Y205G, Y205C, V173D, C238I, V272S, Y236M, N200G, L130H, T211L, C238K, P151R, F270A, R282P, W146P, L111Q, G226I, P151Q, F270C, S94I, G262V, P278A, M246W, Y107D, V197T, V197D, L130D, I251G, R174N, I251P, F113I, R158H, M246S, I232A, Y126D, S94N, Y103G, Y107C, T211F, F134K, S127R, C176Y, F113T, V143A, V197M, V218S, E171P, T231G, A159H, V217W, E221P, V216P, Y220N, Y205A, T211I, M246Y, I255E, R174L, V172G, R213P, T211H, P142Q, R175D, C176H, Y236I, T211V, V147K, Y126N, C135Y, F270E, S127L, L111T, Y234P, Y126S, L137D, I251N, G154P, Y234D, I195F, L194G, Y163V, C238T, Y205P, C135H, L130Q, H193W, L111W, I232P, Y163L, M133R, M133K, I251E, H193R, S149P, E287P, R174E, A159K, S94Y, I255P, G245W, Y107V, P151W, F134L, V272A, G245R, V216S, M160K, Y220E, W146G, W146D, S127V, G226P, F270G, N131V, N239E, Y163A, L111C, I232Q, R174W, F134A, M237Y, Y220P, V143T, F134C, L111N, V143S, R158Y, E180P, Y163P, G245T, N131I, I232N, S127Q, G245H, Y220A, I255N, A159I, S96P, V203G, C238N, T211W, R156E, G262I, Y234N, C238Q, Y234S, I195R, Y220R, P151H, R196D, P190G, C135W, G245C, P142G, R174G, F134D, V173N, Y234K, E198P, V218D, R158D, R282D, F113H, Y126V, R248I, Y163I, I251Q, L206P, Y220S, C176F, I251S, I232T, G245I, G226V, F113E, Y236H, L194C, G199I -> [stability, long_range] --- C238H, C141K, C238Y, C238N, C124K, C141Q, C242F, C238Q, C238R, C141Y, C141P, C238A, C141D, G245C, C238M, C242P, C141W, C242H, C238W, C238V, C242W, C238I, C141R, C238T, C238G, C141H, C238F, C141E, C238K, C242Y, C124P, C238L, C242D, C141F, C141G, C238P -> [stability, disulfide] --- C238H, L194S, G245Q, C238Y, M246W, C176G, L194N, C176P, C176I, H179L, V274N, G245D, M246S, R175F, R175E, H178E, L194Q, H179G, C176Y, L194K, L194T, L194E, V274K, C238L, V274W, M246Y, H179K, C242F, C176S, C176H, R175D, H179W, H179A, R175Y, L194A, V274Y, M246N, V274D, H179Q, C238M, C176V, V274E, C176W, L194D, L194R, M246G, G245F, C238V, H179T, S240P, C242W, L194G, C238T, V274F, R175H, C176Q, L194P, C238F, G245E, H179R, C242Y, G245K, V274R, C176L, G245M, V274H, G245W, R181P, V274S, C176A, G245R, C242P, R175W, G245N, N239E, M246K, H179S, G245S, G245L, G245T, E180P, G245H, C182P, V274T, C176T, H179N, C242D, V274A, G245Y, C238P, L194Y, G245A, V274G, M246H, M246R, C238N, G245V, H179P, C176K, C238Q, C238R, M246F, L194H, C176M, H179V, V274Q, R175G, C238A, G245C, G245P, M246D, H179I, H179F, H179Y, V274P, C242H, L194W, C238W, C176N, C176R, C238I, C238G, C176F, H179M, G245I, C238K, L194C -> [stability, functional site] --- T211I, Y126P, T211M, Y126R, Y126A, T211R, T211W, S149P, Y126T, S185P, T211H, T211P, T211Q, T211V, Y126Q, Y126N, T211A, Y126G, Y126C, Y126S, Y126D, T284P, Y126E, T211K, T211E, T211G, Y126V, T211F, Y220M, Y126K, T211L, Y126H, T211Y -> [stability, ptm] --- K120H, N239M, G244V, C275W, R273P, C275Y, D281A, K120A, K120E, G244C, R273H, H178D, R248L, M243T, K120G, H178L, K120Q, C275R, K120P, W91S, R248G, G244D, K120N, G244E, H178P, C275T, K120D, H178Y, N239Y, D281S, H178Q, D281G, R248C, C275K, R248P, H178N -> [local_interactions, long_range] --- C242W, D281C -> [local_interactions, disulfide] --- H178Q, S240W, N239M, H178D, S240F, S240Y, H178P, H178Y, C242W, M243T, H178L, H178N, N239Y -> [local_interactions, functional site] --- C238H, C238Y, C124G, C238N, H179C, C238Q, C238R, Q144C, C242S, C242A, W146C, C238A, G245C, C238M, C124S, C242G, C238W, V272C, C238S, C238V, C124A, C238I, C238T, K120C, C238G, C238F, C238E, C238K, C238L -> [long_range, disulfide] --- C238H, E180M, L194S, G245Q, E180W, C238Y, M246W, C176G, P177M, E180A, L194N, C176I, M243P, S240G, C182G, H179L, M246Q, P177W, P177F, G245D, M246S, N239I, R175E, H178E, L194Q, H179G, H178F, H178G, R181W, C238S, N239L, R175C, H178I, M243A, H178C, C176Y, M243G, C182H, M243Q, L194T, C182N, H178Y, L194E, M243V, R181E, R175A, R175S, C238L, C176E, P177E, E180C, R181G, R181Y, P177K, N239H, E180D, M246Y, H179K, N239M, C182W, M243E, N239Q, H179C, P177R, C176S, R175D, C176H, H179W, H178T, H179A, H179E, R181M, C182S, L194A, C242S, M246N, H179Q, R181A, C238M, C176V, H178D, E180K, C182R, C176W, M246P, L194D, C182E, M246G, C182F, G245F, N239R, C238V, H179T, R181I, M243Y, M246T, L194G, C238T, R181L, R175H, C176Q, H178Q, L194P, C238F, G245E, H179R, R181D, M243R, G245K, C182M, N239F, N239V, C176L, H178S, C182I, G245M, C182T, C182A, R175Q, G245W, R181P, H178V, R181T, C182Q, C242A, C176A, E180S, C182K, P177V, G245R, R175V, M243D, R181V, P177L, H178K, P177H, R181N, M243W, N239E, G245N, M246K, H179D, H179S, L194V, E180H, G245S, H178P, G245L, N239W, E180N, P177Y, P177Q, R175I, N239Y, R181C, E180P, M243C, G245T, C238E, R181H, G245H, C182Y, R175P, C176T, H178A, H179N, R175T, E180R, C182L, E180F, N239K, H178N, G245Y, E180Q, R175L, R181F, G245A, R175M, M246H, M246R, C238N, G245V, H179P, C176K, E180T, C238Q, C182V, C238R, M246F, M246E, E180I, L194H, C176M, H179V, M246A, R175G, C238A, R175N, P177I, M243F, M243S, G245C, R181S, H179I, H179F, H179Y, G245P, M246D, C242G, M243T, H178L, E180Y, C238W, E180G, H178W, C176N, M243H, C176R, R181Q, C238I, M243K, E180L, M246C, H178M, C238G, C176F, H179M, G245I, C238K, L194C, M243N, M246V, H178R -> [long_range, functional site] --- T150G, S183V, S183G, T211R, T150K, S99M, T150V, S185K, S185W, Y126G, S99P, S149L, S149H, S185H, Y126D, S149N, T211G, S185F, T211F, Y220M, S149R, T150A, S149D, S269G, S99W, S99V, T150F, T211I, S185G, S185L, S99R, S183L, T150W, S183I, Y126A, S183R, T150Y, S149E, T211H, S149Q, S185M, T211V, S99H, S215G, Y126N, T150E, S99F, S183F, Y126S, T211C, S149F, T150M, Y126E, T211K, S183D, S149K, S99D, T150S, S183N, Y126H, S185R, S183M, S99G, S99N, S99C, S185D, S149C, S99E, T211M, T150R, S185T, Y126R, S185I, S149P, S183K, S149W, S185V, T211S, S149M, S99K, T211Q, Y126Q, T211A, T150I, S183H, Y126C, S149T, S183P, S183T, Y220L, S99I, S183Y, S149V, S183C, S183W, T211Y, T150C, S99Q, S185E, Y126P, S149I, T211W, S106G, T150Q, Y126T, S185P, S183Q, S149Y, T150H, S185Q, S185C, T211E, Y126V, S185Y, S99L, S185N, Y126K, T150L, T211L, S183E -> [long_range, ptm] --- C238H, C238Y, C238N, C242F, H179C, C238Q, C238R, C242S, C242A, C238A, C242V, G245C, C238M, C242N, C242P, C242L, C242G, C242H, C242T, C238W, C242R, C238S, C242Q, C238V, C242E, C242W, C238I, C238D, C238T, C238G, C238F, C242I, C238E, C242M, C242K, C238K, C242Y, C238L, C242D, C238P -> [disulfide, functional site] --- G244V, R248P, R273P -> [stability, local_interactions, long_range] +-- R248P, R273P, G244V, G279W, C242W, D281P, G279H -> [stability, local_interactions] +-- V272D, K132Y, C176S, V203K, C176Q, Y205K, Y205N, W146G, V173G, Y163E, L130Q, V203R, R174S, R282H, V272S, Y126M, P278A, N200G, Y205S, A159D, I251T, C135W, C238A, V143N, V217K, S94R, C176H, Y163H, M160W, C238R, L111W, M246Y, L130D, C176I, V122P, Y234E, P151E, Y236T, S94D, G226I, N131V, V173P, C135R, L130Y, Y205W, F134H, N239E, R156P, Y107T, H178E, E171P, V172G, D208G, Y126P, I251D, F270H, G154S, P151Y, S94L, Y236R, R158F, R174I, T211F, L130H, V216T, R156G, G244I, P151S, M237K, C238N, Y103P, F134R, F134E, Y126L, L194Q, M246K, Y205C, L111H, R174N, Y236D, F113H, Y236P, Y205E, R175G, G245H, R110P, T230G, Y220D, V272G, H179S, Y205A, V197Y, V217R, R174D, R158N, L111R, F113I, F270A, Y163N, F134G, R175D, I232G, L111F, R158D, V97D, I255N, G245N, C238G, V218N, C238M, F134K, C238Y, F134L, V216N, T211V, P142E, Q144G, L130S, R174Q, R213D, S94P, R273P, Y220I, L111Y, V272N, R158E, E198P, Y126A, A159W, L194A, Y126H, P151G, S94W, I232R, R181P, G262I, Y163I, Y163V, Y234R, R174W, V203H, A159R, V197K, G245S, T211H, V197R, V217W, G245M, R267E, Y163L, R213P, R175H, F134C, M246G, R174A, L194H, L111S, Y236N, Y236A, R174L, P151W, R267P, S96P, S127E, V147W, M246R, F134A, V217Y, F134T, L111P, F270K, C135F, E287P, H179K, M237Y, F134D, L137G, T211R, Y220A, R213S, R249G, C238V, S127Y, F113Q, V218S, M133R, R267D, S94Y, S127V, A159P, V97G, A159Q, G245W, F270R, L111C, L111G, G199I, Y126K, I232D, A159H, L111T, S127I, L289P, F270V, V173N, R156E, V203D, Y163M, S127L, V217H, L111A, M246S, F134S, C176W, F270E, G226A, Y220G, G245T, Y205R, S94I, I251C, R158W, V272A, G154P, L194N, G226P, C176R, F113D, T211A, L188P, C135K, M160P, Y234N, V147K, G199V, I195F, R196P, Y236M, H179T, I251S, A159E, C238W, Y163P, Y205G, F270G, L130P, G245V, I232Q, G245E, R110D, R196D, S94Q, E286G, Y107R, Y220P, V197W, Y163S, H168P, T211L, I255A, K164P, N235F, Y126S, I255T, V197F, H179F, T211G, M133Y, L206P, H179P, V216S, P278G, F270S, D208K, I251G, C176N, S127K, V218D, T211Q, F113P, Y234Q, C176K, C176G, I251P, Y205I, H179R, V216D, Y126T, V197N, C238F, C176V, Y107L, G226C, F270T, M160N, I232E, K132W, S94N, Y107G, C176T, P190G, Y163D, I255P, I232N, G112P, Y236K, V143P, S127H, P151K, R248V, S94F, I255D, G245R, M133K, Y236H, I251H, I232H, F270Q, T211Y, L111D, F113G, F113S, V143A, I232A, R282G, R249P, G244T, V218A, Y205M, R248I, V203N, Y205P, Y126I, C135N, G245D, R175E, E285P, F270P, F113C, P151Q, C238L, S94K, V143D, V203Y, I251A, H179L, V216P, V143S, Y163C, V143G, R248P, Y126R, Y107D, I232T, V173S, G154V, Y220R, P142H, W146P, A159I, Y126E, M246H, M160Y, L194E, F270N, Q136P, G262V, L194C, Y163T, G245F, G245Y, H179M, C238H, T211E, M246N, T211M, Y236S, C176M, G262P, Q136D, Y205D, Y220N, V218G, H179A, Y234K, W146D, R156D, S127M, M160G, V197T, R174E, R267N, V143T, Y126G, F113T, S149P, Y107Q, Y220E, G244P, V272P, P151F, Y163G, C238I, M246F, I255G, T211K, Y107V, C238Q, S127G, Y220K, V147H, Y163R, L130W, Y220V, R158G, G245P, H179Y, Y107I, Y234A, F134V, V203W, L130A, R158Y, Y234T, S127F, Y126D, S127Q, Y236E, L137N, R158H, R213G, G187P, Y234S, G245C, Y234C, Y126N, H193P, V217F, Y107N, L130E, I195Y, I255S, L194S, G154T, E180P, G245Q, A159F, C135Y, Y107E, I255Q, H193R, Y234P, Y107C, F134N, Y220M, Y234D, M246D, R174G, M160R, H179G, I251E, L194T, Y205T, R202P, P142G, V197A, Y236C, I195W, I232S, G245L, F113N, R273G, E204P, V197S, C176F, G245K, G154I, Y163K, S94M, K132F, G187I, F270C, M246W, A159K, Y126Q, M160D, H193W, L111Q, A159Y, S94H, V197G, L194P, Y220T, Y126C, P151R, C176L, M237P, F134P, G226V, T231G, G226T, I255H, H179I, C176Y, Y220H, Y163Q, F113R, V173D, F113E, C135H, V203G, V197M, I251N, T211W, Y220C, M237R, Q144P, Y107K, I255E, G245I, C176A, C135E, H179Q, Y107S, V218P, I232P, L111N, H179W, Y236L, Y236G, Y234G, R267G, V203P, V197P, Y107A, V203F, S127R, Y236I, Y220Q, L137D, L194D, I195R, Y236V, Y107P, M160K, H179N, Y236Q, L130G, I255C, I251Q, R158P, S94E, Y205L, L130N, L130T, Y234V, Y126V, V216G, Y205Q, G187V, F113V, R174P, E221P, N131I, F134Q, F270D, L137S, M169P, P278S, E286P, R282P, F113A, L130R, F113K, T211I, G244V, G199P, S127P, C238K, V197D, V197H, H179V, S185P, P151H, S127W, Y103G, L111E, K139P, N235Y, Y205V, P142Q, P151I, Y220S, G245A, A138P, R282D, L194G, V147R, C238T, Y163A -> [stability, long_range] +-- C141K, C242Y, C141F, C238W, C242F, C242D, C238K, C238V, C238A, C242H, G245C, C141Q, C141H, C238F, C141E, C141Y, C238N, C238G, C238P, C238R, C238M, C141W, C238I, C238Y, C124K, C238Q, C238H, C141R, C141G, C242W, C124P, C141P, C238T, C141D, C238L, C242P -> [stability, disulfide] +-- G245R, C176S, C182P, C176Q, M246R, M246D, V274N, H179G, L194T, H179K, C242F, C238V, C238A, G245L, C176H, C176F, G245K, L194K, C238R, M246Y, G245D, C176I, R175E, C176P, G245W, M246W, V274H, C238L, N239E, H178E, C242Y, H179L, V274P, L194P, M246S, C176L, R175F, C176W, V274G, M246H, L194E, G245T, R175W, C238N, L194C, G245F, H179I, G245Y, C176Y, H179M, C238H, M246N, L194Q, M246K, S240P, L194N, V274D, C176R, V274A, C176M, R175Y, R175G, G245I, C176A, C242P, H179Q, V274R, G245H, H179W, V274K, H179A, H179S, H179T, C238W, C242D, V274Y, L194D, R175D, G245V, H179N, G245E, G245N, C238G, C238M, C238I, C238Y, M246F, C238Q, G245P, H179F, H179Y, H179P, V274E, L194R, C176N, L194Y, V274S, L194A, C176K, R181P, V274F, C238K, C176G, V274T, C242H, H179V, G245C, H179R, G245S, C238F, C176V, C238P, G245M, L194S, C176T, E180P, V274Q, G245Q, R175H, G245A, M246G, L194H, C242W, L194G, V274W, C238T, L194W -> [stability, functional site] +-- T211A, Y126K, Y126Q, Y126P, Y220M, T211Y, T211Q, Y126A, Y126H, T211P, Y126R, Y126D, T211I, Y126C, T211R, T284P, Y126G, S149P, T211F, Y126T, S185P, T211H, Y126E, Y126N, T211K, T211E, T211L, Y126V, Y126S, T211V, T211M, T211G, T211W -> [stability, ptm] +-- K120H, K120P, K120A, R273P, H178L, C275T, K120E, C275W, M243T, G244C, R248P, R248L, H178Q, K120D, K120Q, G244V, D281S, K120N, R248G, D281A, W91S, H178Y, R273H, R248C, C275K, N239M, N239Y, G244E, H178D, K120G, C275Y, H178N, G244D, C275R, H178P, D281G -> [local_interactions, long_range] +-- D281C, C242W -> [local_interactions, disulfide] +-- S240F, H178N, H178Q, H178Y, H178L, H178P, C242W, N239M, N239Y, S240W, H178D, S240Y, M243T -> [local_interactions, functional site] +-- C124S, W146C, H179C, C238S, C124A, C238W, C242S, C238K, C238V, C238A, Q144C, C238E, K120C, G245C, C238F, C242G, C238N, C238G, C238R, V272C, C238M, C238I, C238Y, C238Q, C238H, C242A, C124G, C238T, C238L -> [long_range, disulfide] +-- G245R, C176S, C182K, R181V, H178L, R175Q, R175C, C176Q, C182Y, M246R, M246D, R175I, N239I, H179G, L194T, R181E, H178Q, H179K, M246A, N239L, M243W, C238V, C238A, M246T, P177M, C238E, G245L, R181M, M243S, C176H, C176F, H178Y, C176E, G245K, N239R, P177L, C238R, E180G, H178D, M246Y, G245D, C182T, R175E, C176I, H178T, M243Q, N239H, N239V, N239F, M243E, G245W, H178K, E180F, C182R, P177H, E180W, M246W, M243P, C238L, R175V, N239E, E180L, E180S, C182S, M243D, H178E, M246C, H179C, P177Y, H179L, E180Y, H178R, C182L, E180H, C182F, L194P, R181Q, R175P, P177W, P177F, M246S, R175T, C176L, P177E, H178W, R175S, C176W, H178M, R181F, H178F, M246H, H178A, H178C, L194E, G245T, E180A, C238N, N239M, L194C, G245F, H179I, H178V, R181W, C176Y, H179M, C182V, C238H, S240G, G245Y, M246N, L194Q, C182G, C182H, M246K, H178N, L194N, C176R, R175N, R181I, H178S, E180T, R181C, C176M, R175G, R181Y, C176A, G245I, H179Q, C182A, G245H, P177Q, M246Q, H179W, R181S, H178G, H179A, E180M, H179S, M243R, C238S, M246E, H179T, E180R, C238W, C242S, P177I, N239K, L194D, R175D, M243A, G245V, H179N, M243C, G245E, E180K, G245N, C238G, C238M, R181T, C238I, C238Y, R181D, R181N, N239Y, C238Q, E180N, M246F, M246P, C242A, M243F, R181L, R175A, G245P, H179F, M243G, H179Y, C182W, R181G, H179P, C182Q, P177K, M243Y, E180C, R175L, C176N, M243K, H179D, L194A, M243N, M243T, P177V, R181A, C176K, R181P, E180D, C238K, C176G, N239Q, H179V, G245C, H179R, G245S, P177R, C238F, H179E, C176V, H178I, C242G, R175M, G245M, R181H, E180Q, C182N, C176T, C182E, L194S, M243H, M246V, M243V, E180P, G245Q, R175H, G245A, E180I, M246G, C182I, L194V, L194H, H178P, C182M, L194G, C238T, N239W -> [long_range, functional site] +-- S99L, Y220M, T211Y, S106G, S149W, S185Q, S99P, S149R, S149N, T211R, S185N, T211S, S183E, T150L, S185R, S99R, S99M, S149K, S99K, S183V, S185T, S149I, S183I, T150Y, S183K, Y220L, S149E, T150Q, T150H, S185Y, Y126K, S183H, Y126Q, Y126P, T150G, S99E, S99W, Y126R, T211C, Y126C, S149F, S183T, S149C, T211F, S183D, Y126E, S183N, S183R, S149M, S185K, T150C, T150F, S99H, T211E, S149L, T150A, T211M, T211W, S185E, S149Y, T150R, S183P, T211A, S185D, S149V, T150S, S99C, S149T, S185V, T150W, Y126G, T150I, S99G, S149P, S185C, S99N, S149D, T150E, S183M, S183Q, S149Q, S99Q, S185G, T211K, S99F, S99I, T211L, Y126V, Y126S, T211V, S99V, T211G, S185W, S99D, S185H, S185I, S183C, S149H, T211Q, Y126A, Y126H, Y126D, T211I, S183F, S183L, S183Y, S185L, S185F, Y126T, S185P, T211H, S183W, Y126N, S269G, S215G, T150K, S183G, S185M, T150M, T150V -> [long_range, ptm] +-- C242Y, H179C, C242L, C242T, C238S, C242V, C238D, C238W, C242S, C242F, C242D, C242R, C238K, C238V, C238A, C242H, C238E, G245C, C238F, C242E, C242G, C238N, C238G, C238P, C238R, C238M, C238I, C238Y, C238Q, C238H, C242A, C242N, C242Q, C242W, C242I, C242K, C238T, C238L, C242P, C242M -> [disulfide, functional site] +-- R248P, G244V, R273P -> [stability, local_interactions, long_range] -- C242W -> [stability, local_interactions, disulfide] --- C238G, C238H, C238F, C238W, C238A, C238R, C238N, C238Y, C238K, C238M, C238V, G245C, C238L, C238Q, C238I, C238T -> [stability, long_range, disulfide] --- C238H, L194S, G245Q, C238Y, M246W, C176G, L194N, C176I, H179L, G245D, M246S, R175E, H178E, L194Q, H179G, C176Y, L194T, L194E, C238L, M246Y, H179K, C176S, C176H, R175D, H179W, H179A, L194A, M246N, H179Q, C238M, C176V, C176W, L194D, M246G, G245F, C238V, H179T, L194G, C238T, R175H, C176Q, L194P, C238F, G245E, H179R, G245K, C176L, G245M, G245W, R181P, C176A, G245R, G245N, N239E, M246K, H179S, G245S, G245L, G245T, E180P, G245H, C176T, H179N, G245Y, G245A, M246H, M246R, C238N, G245V, H179P, C176K, C238Q, C238R, M246F, L194H, C176M, H179V, R175G, C238A, G245C, G245P, M246D, H179I, H179F, H179Y, C238W, C176N, C176R, C238I, C238G, C176F, H179M, G245I, C238K, L194C -> [stability, long_range, functional site] --- T211I, Y126P, T211M, Y126R, Y126A, T211R, T211W, S149P, Y126T, S185P, T211H, T211Q, T211V, Y126Q, Y126N, T211A, Y126G, Y126C, Y126S, Y126D, Y126E, T211K, T211E, T211G, Y126V, T211F, Y220M, Y126K, T211L, Y126H, T211Y -> [stability, long_range, ptm] --- C238H, C238Y, C238N, C242F, C238Q, C238R, C238A, G245C, C238M, C242P, C242H, C238W, C238V, C242W, C238I, C238T, C238G, C238F, C238K, C242Y, C238L, C242D, C238P -> [stability, disulfide, functional site] --- H178Q, N239M, H178D, H178P, H178Y, M243T, H178L, H178N, N239Y -> [local_interactions, long_range, functional site] +-- C238W, C238N, C238G, C238R, G245C, C238M, C238I, C238K, C238Y, C238V, C238A, C238Q, C238H, C238T, C238L, C238F -> [stability, long_range, disulfide] +-- G245R, C176S, C176Q, M246R, M246D, H179G, L194T, H179K, C238V, C238A, G245L, C176H, C176F, G245K, C238R, M246Y, G245D, C176I, R175E, G245W, M246W, C238L, N239E, H178E, H179L, L194P, M246S, C176L, C176W, M246H, L194E, G245T, C238N, L194C, G245F, H179I, G245Y, C176Y, H179M, C238H, M246N, L194Q, M246K, L194N, C176R, C176M, R175G, G245I, C176A, H179Q, G245H, H179W, H179A, H179S, H179T, C238W, L194D, R175D, G245V, H179N, G245E, G245N, C238G, C238M, C238I, C238Y, M246F, C238Q, G245P, H179F, H179Y, H179P, C176N, L194A, C176K, R181P, C238K, C176G, H179V, G245C, H179R, G245S, C238F, C176V, G245M, L194S, C176T, E180P, G245Q, R175H, G245A, M246G, L194H, L194G, C238T -> [stability, long_range, functional site] +-- T211A, Y126K, Y126Q, Y126P, Y220M, T211Y, T211Q, Y126A, Y126H, Y126R, Y126D, T211I, Y126C, T211R, Y126G, S149P, T211F, Y126T, S185P, T211H, Y126E, Y126N, T211K, T211E, T211L, Y126V, Y126S, T211V, T211M, T211G, T211W -> [stability, long_range, ptm] +-- C242Y, C238W, C242F, C242D, C238K, C238V, C238A, C242H, G245C, C238F, C238N, C238G, C238P, C238R, C238M, C238I, C238Y, C238Q, C238H, C242W, C238T, C238L, C242P -> [stability, disulfide, functional site] +-- H178N, H178Q, H178Y, H178L, H178P, N239M, N239Y, H178D, M243T -> [local_interactions, long_range, functional site] -- C242W -> [local_interactions, disulfide, functional site] --- C238H, C238Y, C238N, H179C, C238Q, C238R, C242S, C242A, C238A, G245C, C238M, C242G, C238W, C238S, C238V, C238I, C238T, C238G, C238F, C238E, C238K, C238L -> [long_range, disulfide, functional site] --- C238G, C238H, C238F, C238W, C238A, C238R, C238N, C238Y, C238K, C238M, C238V, G245C, C238L, C238Q, C238I, C238T -> [stability, long_range, disulfide, functional site] +-- H179C, C238S, C238W, C242S, C238K, C238V, C238A, C238E, G245C, C238F, C242G, C238N, C238G, C238R, C238M, C238I, C238Y, C238Q, C238H, C242A, C238T, C238L -> [long_range, disulfide, functional site] +-- C238W, C238N, C238G, C238R, G245C, C238M, C238I, C238K, C238Y, C238V, C238A, C238Q, C238H, C238T, C238L, C238F -> [stability, long_range, disulfide, functional site] - We aggregated all the variants that have at least one of the MAVISp modules with a predicted damaging effect (except for PTM.function) and retained only the ones with a REVEL score higher than 0.5 for a total of 710 variants which could be of interest for further investigation: -- ['W91R', 'P92A', 'P92S', 'L93V', 'S94L', 'S94P', 'S94T', 'S95F', 'S95T', 'S96P', 'S96Y', 'V97A', 'V97D', 'V97F', 'V97I', 'V97L', 'P98A', 'P98H', 'P98L', 'P98R', 'P98S', 'S99C', 'S99F', 'S99P', 'K101E', 'T102I', 'Y103C', 'Y103H', 'Y103N', 'Y103S', 'G105A', 'G105C', 'G105D', 'G105R', 'G105S', 'G105V', 'S106R', 'Y107C', 'Y107D', 'Y107H', 'Y107N', 'Y107S', 'G108C', 'G108D', 'G108S', 'G108V', 'F109C', 'F109I', 'F109S', 'F109V', 'F109Y', 'R110G', 'R110H', 'R110L', 'R110P', 'R110S', 'L111P', 'L111Q', 'L111R', 'F113C', 'F113L', 'F113S', 'L114V', 'H115Y', 'S116C', 'S116F', 'G117A', 'G117E', 'G117R', 'G117V', 'G117W', 'T118A', 'A119G', 'K120E', 'K120M', 'K120N', 'K120Q', 'K120T', 'S121F', 'V122A', 'V122L', 'V122M', 'T123I', 'T123S', 'C124F', 'C124G', 'C124R', 'C124S', 'C124W', 'C124Y', 'T125A', 'T125K', 'T125M', 'T125P', 'T125R', 'T125S', 'Y126C', 'Y126D', 'Y126H', 'Y126N', 'Y126S', 'S127C', 'S127F', 'S127P', 'S127T', 'S127Y', 'P128L', 'P128R', 'P128S', 'A129D', 'L130F', 'L130H', 'L130P', 'L130R', 'L130V', 'N131H', 'N131I', 'N131K', 'N131S', 'N131Y', 'K132E', 'M133K', 'M133R', 'M133T', 'F134C', 'F134I', 'F134L', 'F134S', 'F134V', 'C135F', 'C135G', 'C135R', 'C135S', 'C135W', 'C135Y', 'Q136E', 'Q136H', 'Q136K', 'Q136L', 'Q136P', 'Q136R', 'L137P', 'L137Q', 'L137V', 'A138D', 'A138P', 'A138T', 'A138V', 'K139E', 'K139N', 'K139Q', 'K139T', 'T140A', 'T140I', 'T140S', 'C141F', 'C141G', 'C141R', 'C141S', 'C141W', 'C141Y', 'P142A', 'P142H', 'P142L', 'P142R', 'P142S', 'V143A', 'V143E', 'V143G', 'Q144H', 'Q144K', 'Q144L', 'Q144P', 'Q144R', 'L145P', 'L145Q', 'L145R', 'W146C', 'W146G', 'W146S', 'V147D', 'V147F', 'V147G', 'V147I', 'D148V', 'D148Y', 'S149P', 'P151A', 'P151H', 'P151L', 'P151R', 'P151S', 'P151T', 'P152A', 'P152S', 'G154A', 'G154C', 'G154D', 'G154R', 'G154S', 'G154V', 'T155I', 'T155N', 'T155P', 'R156G', 'R156H', 'R156L', 'R156P', 'R156S', 'V157A', 'V157D', 'V157F', 'V157G', 'R158C', 'R158G', 'R158H', 'R158L', 'R158P', 'R158S', 'A159D', 'A159P', 'A159T', 'A159V', 'M160K', 'M160R', 'M160T', 'M160V', 'A161D', 'I162F', 'I162N', 'I162S', 'Y163C', 'Y163D', 'Y163H', 'Y163N', 'Y163S', 'K164E', 'K164M', 'K164N', 'K164Q', 'K164T', 'Q165E', 'Q165P', 'S166L', 'S166P', 'S166T', 'Q167H', 'Q167K', 'Q167L', 'Q167P', 'Q167R', 'H168D', 'H168L', 'H168N', 'H168P', 'H168Q', 'H168R', 'H168Y', 'M169T', 'M169V', 'T170A', 'T170K', 'T170M', 'T170R', 'T170S', 'E171A', 'E171D', 'E171G', 'V172A', 'V172D', 'V172F', 'V172G', 'V173A', 'V173E', 'V173G', 'V173M', 'R174G', 'R174M', 'R174S', 'R174T', 'R174W', 'R175C', 'R175G', 'R175H', 'R175L', 'R175P', 'R175S', 'C176F', 'C176G', 'C176R', 'C176S', 'C176W', 'C176Y', 'P177H', 'P177L', 'P177R', 'H178D', 'H178L', 'H178N', 'H178P', 'H178Q', 'H178R', 'H178Y', 'H179D', 'H179L', 'H179N', 'H179P', 'H179Q', 'H179R', 'H179Y', 'E180D', 'E180G', 'E180K', 'E180Q', 'R181C', 'R181G', 'R181H', 'R181L', 'R181P', 'R181S', 'C182G', 'C182R', 'C182W', 'C182Y', 'S183L', 'D184E', 'D184G', 'D184H', 'D184Y', 'S185R', 'D186E', 'D186G', 'D186H', 'D186V', 'G187A', 'G187C', 'G187D', 'G187R', 'G187S', 'G187V', 'L188P', 'L188Q', 'L188V', 'A189D', 'A189G', 'A189P', 'P190A', 'P190H', 'P190L', 'P190R', 'P190S', 'P190T', 'P191A', 'P191H', 'P191L', 'P191R', 'P191S', 'Q192E', 'Q192H', 'Q192K', 'Q192L', 'Q192P', 'Q192R', 'H193D', 'H193L', 'H193N', 'H193P', 'H193Q', 'H193R', 'H193Y', 'L194H', 'L194P', 'L194R', 'L194V', 'I195F', 'I195N', 'I195S', 'I195T', 'R196G', 'R196L', 'R196P', 'R196Q', 'V197A', 'V197E', 'V197G', 'V197L', 'V197M', 'E198D', 'E198G', 'E198K', 'E198Q', 'G199A', 'G199E', 'G199R', 'G199V', 'N200H', 'N200I', 'N200S', 'N200Y', 'L201S', 'R202H', 'R202L', 'R202P', 'V203A', 'V203E', 'V203L', 'V203M', 'E204A', 'E204G', 'E204K', 'Y205C', 'Y205D', 'Y205H', 'Y205N', 'Y205S', 'L206S', 'L206W', 'D207A', 'D207G', 'D207H', 'D207Y', 'D208A', 'D208E', 'D208G', 'D208H', 'D208V', 'D208Y', 'R209G', 'R209I', 'R209S', 'R209T', 'T211A', 'T211I', 'T211N', 'T211P', 'T211S', 'R213G', 'R213L', 'R213P', 'R213Q', 'H214L', 'H214R', 'H214Y', 'S215C', 'S215G', 'S215I', 'S215T', 'V216A', 'V216E', 'V216G', 'V216M', 'V217E', 'V217G', 'V217L', 'V218A', 'V218E', 'V218G', 'P219A', 'P219S', 'Y220C', 'Y220D', 'Y220H', 'Y220N', 'Y220S', 'E221A', 'E221D', 'E221G', 'E221K', 'P222L', 'P222Q', 'P223H', 'P223L', 'P223R', 'E224A', 'E224D', 'E224G', 'E224K', 'E224Q', 'V225D', 'V225F', 'V225G', 'G226A', 'G226C', 'G226D', 'G226S', 'G226V', 'S227P', 'D228A', 'D228G', 'D228H', 'D228V', 'D228Y', 'C229G', 'C229S', 'T230A', 'T230P', 'T230S', 'T231A', 'T231I', 'T231S', 'I232F', 'I232N', 'I232S', 'I232T', 'H233D', 'H233L', 'H233P', 'H233Q', 'H233R', 'H233Y', 'Y234C', 'Y234D', 'Y234H', 'Y234N', 'Y234S', 'N235H', 'N235I', 'N235K', 'N235S', 'N235Y', 'Y236C', 'Y236D', 'Y236H', 'Y236N', 'Y236S', 'M237K', 'M237R', 'M237T', 'M237V', 'C238F', 'C238G', 'C238R', 'C238S', 'C238W', 'C238Y', 'N239H', 'N239I', 'N239K', 'N239Y', 'S240G', 'S241P', 'C242F', 'C242G', 'C242R', 'C242S', 'C242W', 'C242Y', 'M243K', 'M243R', 'M243T', 'M243V', 'G244A', 'G244C', 'G244D', 'G244R', 'G244S', 'G244V', 'G245A', 'G245C', 'G245D', 'G245R', 'G245S', 'G245V', 'M246K', 'M246R', 'M246T', 'M246V', 'N247D', 'N247I', 'N247T', 'R248G', 'R248L', 'R248P', 'R248Q', 'R249G', 'R249M', 'R249S', 'R249T', 'R249W', 'P250A', 'P250S', 'I251F', 'I251N', 'I251S', 'I251T', 'I251V', 'L252H', 'L252P', 'T253N', 'T253P', 'I254N', 'I254S', 'I254T', 'I255F', 'I255N', 'I255S', 'I255T', 'I255V', 'T256P', 'L257P', 'L257Q', 'L257R', 'E258D', 'E258G', 'E258K', 'D259A', 'D259E', 'D259G', 'D259H', 'D259V', 'D259Y', 'S260C', 'S260F', 'S260P', 'S260T', 'S260Y', 'S261G', 'G262C', 'G262D', 'G262R', 'G262S', 'G262V', 'L264R', 'L265P', 'L265Q', 'L265R', 'G266E', 'G266R', 'G266V', 'R267G', 'R267L', 'R267P', 'R267Q', 'R267W', 'S269G', 'S269I', 'S269N', 'S269R', 'S269T', 'F270C', 'F270I', 'F270L', 'F270S', 'F270V', 'V272A', 'V272E', 'V272G', 'R273C', 'R273G', 'R273H', 'R273L', 'R273P', 'R273S', 'V274A', 'V274D', 'V274F', 'V274G', 'C275F', 'C275G', 'C275R', 'C275S', 'C275W', 'C275Y', 'A276G', 'A276P', 'A276T', 'C277F', 'C277G', 'C277R', 'C277S', 'C277W', 'C277Y', 'P278A', 'P278H', 'P278L', 'P278R', 'P278S', 'P278T', 'G279A', 'G279E', 'G279R', 'G279V', 'G279W', 'R280G', 'R280I', 'R280K', 'R280S', 'R280T', 'D281A', 'D281G', 'D281V', 'D281Y', 'R282G', 'R282L', 'R282P', 'R282Q', 'R282W', 'R283P', 'T284I', 'T284P', 'T284R', 'E285A', 'E285D', 'E285G', 'E286A', 'E286D', 'E286G', 'E287A', 'E287G', 'L289P'] - We aggregated all the variants that have at least one of the MAVISp modules with a predicted damaging effect (except for PTM.function) and retained only the ones with a Demask delta fitness >= 0.25 or <= -0.25 for a total of 2111 variants which could be of interest for further investigation: diff --git a/dot_plot/examples_v2/simple_mode_foldetta_thermompnn/mechanistic_indicators_out.csv b/dot_plot/examples_v2/simple_mode_foldetta_thermompnn/mechanistic_indicators_out_germline.csv similarity index 100% rename from dot_plot/examples_v2/simple_mode_foldetta_thermompnn/mechanistic_indicators_out.csv rename to dot_plot/examples_v2/simple_mode_foldetta_thermompnn/mechanistic_indicators_out_germline.csv diff --git a/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_cbioportal_v2/do.sh b/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_cbioportal_v2/do.sh index a6911a9..1d3c7d1 100755 --- a/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_cbioportal_v2/do.sh +++ b/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_cbioportal_v2/do.sh @@ -4,5 +4,5 @@ csv=$1 # suggested not to use more than 50, otherwise you need to chage the figuresize; # for more information about available options: python dot_plot.py -h python dot_plot_v2.py -i $csv -x 50 -pltD -pltR -pltS cbioportal -vep -lgof -cct germline -python lolliplot.py -i mechanistic_indicators_out.csv -x 50 -s -python filter_pLDDT.py -i $csv -m mechanistic_indicators_out.csv -t 70 +python lolliplot.py -i mechanistic_indicators_out_germline.csv -x 50 -s +python filter_pLDDT.py -i $csv -m mechanistic_indicators_out_germline.csv -t 70 diff --git a/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_cbioportal_v2/dot_plot_v2.py b/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_cbioportal_v2/dot_plot_v2.py index 3c6c43d..07855bb 100755 --- a/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_cbioportal_v2/dot_plot_v2.py +++ b/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_cbioportal_v2/dot_plot_v2.py @@ -2188,7 +2188,7 @@ def main(): ############################### SUMMARY ############################### # Write summary output file - with open('log.txt', 'w') as out: + with open(f'log_{args.clinvar_class_type}.txt', 'w') as out: summary, summary_df = generate_summary(data = dataframe, d_cutoff = args.demask_threshold, r_cutoff = args.revel_threshold, @@ -2232,7 +2232,7 @@ def main(): ################################# AM CSV ################################# filtered_am = filter_vep_summary(summary_df, classification_df, args.AMx, args.adf) - filtered_am.to_csv('mechanistic_indicators_out.csv', index=True) + filtered_am.to_csv(f'mechanistic_indicators_out_{args.clinvar_class_type}.csv', index=True) if __name__ == '__main__': main() diff --git a/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_cbioportal_v2/lolliplot.py b/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_cbioportal_v2/lolliplot.py index a7df629..c2f3a95 100755 --- a/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_cbioportal_v2/lolliplot.py +++ b/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_cbioportal_v2/lolliplot.py @@ -279,6 +279,11 @@ def main(): dest = "save_png", action = 'store_true', help = "Save individual plots as PNGs") + parser.add_argument('-o', + dest="output_prefix", + default="lolliplot", + type=str, + help="Output filename prefix. Default: lolliplot") args = parser.parse_args() # Logging configuration @@ -310,10 +315,10 @@ def main(): save_png = False # Save plots - with PdfPages("lolliplot.pdf") as pdf: + with PdfPages(f"{args.output_prefix}.pdf") as pdf: for i, figure in enumerate(figures): if save_png: - figure.savefig(f'lolliplot_{i}.png', + figure.savefig(f'{args.output_prefix}_{i}.png', dpi=300, bbox_inches='tight') figure.savefig(pdf, diff --git a/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_clinvar_v2/do.sh b/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_clinvar_v2/do.sh index a0f5ca4..41b87f8 100755 --- a/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_clinvar_v2/do.sh +++ b/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_clinvar_v2/do.sh @@ -6,24 +6,15 @@ csv=$1 # Germline classification results: python dot_plot_v2.py -i $csv -x 50 -pltD -pltR -pltC benign likely_benign pathogenic likely_pathogenic -vep none -cct germline -v dictionary.csv -o dot_plot_germline -mv mechanistic_indicators_out.csv mechanistic_indicators_out_germline.csv -mv log.txt log_germline.txt -python lolliplot.py -i mechanistic_indicators_out_germline.csv -x 50 -s -mv lolliplot.pdf lolliplot_germline.pdf +python lolliplot.py -i mechanistic_indicators_out_germline.csv -x 50 -s -o lolliplot_germline python filter_pLDDT.py -i $csv -m mechanistic_indicators_out_germline.csv -t 70 -o mech_plddt_germline # Oncogenicity classification results: python dot_plot_v2.py -i $csv -x 50 -pltD -pltR -pltC benign likely_benign oncogenic likely_oncogenic -vep none -cct oncogenicity -v oncodict.csv -o dot_plot_oncogenicity -mv mechanistic_indicators_out.csv mechanistic_indicators_out_oncogenicity.csv -mv log.txt log_oncogenicity.txt -python lolliplot.py -i mechanistic_indicators_out_oncogenicity.csv -x 50 -mv lolliplot.pdf lolliplot_oncogenicity.pdf +python lolliplot.py -i mechanistic_indicators_out_oncogenicity.csv -x 50 -s -o lolliplot_oncogenicity python filter_pLDDT.py -i $csv -m mechanistic_indicators_out_oncogenicity.csv -t 70 -o mech_plddt_oncogenicity # Clinical impact classification results: python dot_plot_v2.py -i $csv -x 50 -pltD -pltR -pltC benign potential strong -vep none -cct clinical_impact -v clinicaldict.csv -o dot_plot_clinical_impact -mv mechanistic_indicators_out.csv mechanistic_indicators_out_clinical_impact.csv -mv log.txt log_clinical_impact.txt -python lolliplot.py -i mechanistic_indicators_out_clinical_impact.csv -x 50 -mv lolliplot.pdf lolliplot_clinical_impact.pdf +python lolliplot.py -i mechanistic_indicators_out_clinical_impact.csv -x 50 -s -o lolliplot_clinical_impact python filter_pLDDT.py -i $csv -m mechanistic_indicators_out_clinical_impact.csv -t 70 -o mech_plddt_clinical_impact diff --git a/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_clinvar_v2/dot_plot_v2.py b/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_clinvar_v2/dot_plot_v2.py index 3c6c43d..07855bb 100755 --- a/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_clinvar_v2/dot_plot_v2.py +++ b/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_clinvar_v2/dot_plot_v2.py @@ -2188,7 +2188,7 @@ def main(): ############################### SUMMARY ############################### # Write summary output file - with open('log.txt', 'w') as out: + with open(f'log_{args.clinvar_class_type}.txt', 'w') as out: summary, summary_df = generate_summary(data = dataframe, d_cutoff = args.demask_threshold, r_cutoff = args.revel_threshold, @@ -2232,7 +2232,7 @@ def main(): ################################# AM CSV ################################# filtered_am = filter_vep_summary(summary_df, classification_df, args.AMx, args.adf) - filtered_am.to_csv('mechanistic_indicators_out.csv', index=True) + filtered_am.to_csv(f'mechanistic_indicators_out_{args.clinvar_class_type}.csv', index=True) if __name__ == '__main__': main() diff --git a/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_clinvar_v2/lolliplot.py b/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_clinvar_v2/lolliplot.py index a7df629..c2f3a95 100755 --- a/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_clinvar_v2/lolliplot.py +++ b/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_clinvar_v2/lolliplot.py @@ -279,6 +279,11 @@ def main(): dest = "save_png", action = 'store_true', help = "Save individual plots as PNGs") + parser.add_argument('-o', + dest="output_prefix", + default="lolliplot", + type=str, + help="Output filename prefix. Default: lolliplot") args = parser.parse_args() # Logging configuration @@ -310,10 +315,10 @@ def main(): save_png = False # Save plots - with PdfPages("lolliplot.pdf") as pdf: + with PdfPages(f"{args.output_prefix}.pdf") as pdf: for i, figure in enumerate(figures): if save_png: - figure.savefig(f'lolliplot_{i}.png', + figure.savefig(f'{args.output_prefix}_{i}.png', dpi=300, bbox_inches='tight') figure.savefig(pdf, diff --git a/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_cosmic_v2/do.sh b/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_cosmic_v2/do.sh index 076c539..cfa9ca6 100755 --- a/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_cosmic_v2/do.sh +++ b/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_cosmic_v2/do.sh @@ -4,5 +4,5 @@ csv=$1 # suggested not to use more than 50, otherwise you need to chage the figuresize; # for more information about available options: python dot_plot.py -h python dot_plot_v2.py -i $csv -x 50 -pltD -pltR -pltS cosmic -vep -lgof -cct germline -python lolliplot.py -i mechanistic_indicators_out.csv -x 50 -s -python filter_pLDDT.py -i $csv -m mechanistic_indicators_out.csv -t 70 +python lolliplot.py -i mechanistic_indicators_out_germline.csv -x 50 -s +python filter_pLDDT.py -i $csv -m mechanistic_indicators_out_germline.csv -t 70 diff --git a/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_cosmic_v2/dot_plot.pdf b/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_cosmic_v2/dot_plot.pdf deleted file mode 100644 index 6ff8652..0000000 Binary files a/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_cosmic_v2/dot_plot.pdf and /dev/null differ diff --git a/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_cosmic_v2/dot_plot_v2.py b/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_cosmic_v2/dot_plot_v2.py index 3c6c43d..07855bb 100755 --- a/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_cosmic_v2/dot_plot_v2.py +++ b/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_cosmic_v2/dot_plot_v2.py @@ -2188,7 +2188,7 @@ def main(): ############################### SUMMARY ############################### # Write summary output file - with open('log.txt', 'w') as out: + with open(f'log_{args.clinvar_class_type}.txt', 'w') as out: summary, summary_df = generate_summary(data = dataframe, d_cutoff = args.demask_threshold, r_cutoff = args.revel_threshold, @@ -2232,7 +2232,7 @@ def main(): ################################# AM CSV ################################# filtered_am = filter_vep_summary(summary_df, classification_df, args.AMx, args.adf) - filtered_am.to_csv('mechanistic_indicators_out.csv', index=True) + filtered_am.to_csv(f'mechanistic_indicators_out_{args.clinvar_class_type}.csv', index=True) if __name__ == '__main__': main() diff --git a/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_cosmic_v2/lolliplot.pdf b/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_cosmic_v2/lolliplot.pdf deleted file mode 100644 index 2449673..0000000 Binary files a/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_cosmic_v2/lolliplot.pdf and /dev/null differ diff --git a/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_cosmic_v2/lolliplot.py b/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_cosmic_v2/lolliplot.py index a7df629..c2f3a95 100755 --- a/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_cosmic_v2/lolliplot.py +++ b/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_cosmic_v2/lolliplot.py @@ -279,6 +279,11 @@ def main(): dest = "save_png", action = 'store_true', help = "Save individual plots as PNGs") + parser.add_argument('-o', + dest="output_prefix", + default="lolliplot", + type=str, + help="Output filename prefix. Default: lolliplot") args = parser.parse_args() # Logging configuration @@ -310,10 +315,10 @@ def main(): save_png = False # Save plots - with PdfPages("lolliplot.pdf") as pdf: + with PdfPages(f"{args.output_prefix}.pdf") as pdf: for i, figure in enumerate(figures): if save_png: - figure.savefig(f'lolliplot_{i}.png', + figure.savefig(f'{args.output_prefix}_{i}.png', dpi=300, bbox_inches='tight') figure.savefig(pdf, diff --git a/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_v2/do.sh b/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_v2/do.sh index 2c24066..ac6f095 100755 --- a/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_v2/do.sh +++ b/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_v2/do.sh @@ -6,15 +6,13 @@ csv=$1 # Germline classification dotplot python dot_plot_v2.py -i $csv -x 50 -pltD -pltR -colC -vep -lgof -cct germline -v dictionary.csv -o dot_plot_germline -mv log.txt log_germline.txt -python lolliplot.py -i mechanistic_indicators_out.csv -x 50 -s -python filter_pLDDT.py -i $csv -m mechanistic_indicators_out.csv -t 70 +python lolliplot.py -i mechanistic_indicators_out_germline.csv -x 50 -s +python filter_pLDDT.py -i $csv -m mechanistic_indicators_out_germline.csv -t 70 # Oncogenicity dotplot python dot_plot_v2.py -i $csv -x 50 -pltD -pltR -colC -vep -lgof -cct oncogenicity -v oncodict.csv -o dot_plot_oncogenicity -mv log.txt log_oncogenicity.txt # Clinical impact dotplot python dot_plot_v2.py -i $csv -x 50 -pltD -pltR -colC -vep -lgof -cct clinical_impact -v clinicaldict.csv -o dot_plot_clinical_impact -mv log.txt log_clinical_impact.txt + diff --git a/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_v2/dot_plot_v2.py b/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_v2/dot_plot_v2.py index 3c6c43d..07855bb 100755 --- a/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_v2/dot_plot_v2.py +++ b/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_v2/dot_plot_v2.py @@ -2188,7 +2188,7 @@ def main(): ############################### SUMMARY ############################### # Write summary output file - with open('log.txt', 'w') as out: + with open(f'log_{args.clinvar_class_type}.txt', 'w') as out: summary, summary_df = generate_summary(data = dataframe, d_cutoff = args.demask_threshold, r_cutoff = args.revel_threshold, @@ -2232,7 +2232,7 @@ def main(): ################################# AM CSV ################################# filtered_am = filter_vep_summary(summary_df, classification_df, args.AMx, args.adf) - filtered_am.to_csv('mechanistic_indicators_out.csv', index=True) + filtered_am.to_csv(f'mechanistic_indicators_out_{args.clinvar_class_type}.csv', index=True) if __name__ == '__main__': main() diff --git a/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_v2/lolliplot.py b/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_v2/lolliplot.py index a7df629..c2f3a95 100644 --- a/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_v2/lolliplot.py +++ b/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_v2/lolliplot.py @@ -279,6 +279,11 @@ def main(): dest = "save_png", action = 'store_true', help = "Save individual plots as PNGs") + parser.add_argument('-o', + dest="output_prefix", + default="lolliplot", + type=str, + help="Output filename prefix. Default: lolliplot") args = parser.parse_args() # Logging configuration @@ -310,10 +315,10 @@ def main(): save_png = False # Save plots - with PdfPages("lolliplot.pdf") as pdf: + with PdfPages(f"{args.output_prefix}.pdf") as pdf: for i, figure in enumerate(figures): if save_png: - figure.savefig(f'lolliplot_{i}.png', + figure.savefig(f'{args.output_prefix}_{i}.png', dpi=300, bbox_inches='tight') figure.savefig(pdf, diff --git a/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_vus_v2/do.sh b/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_vus_v2/do.sh index a7d716b..ff2d079 100755 --- a/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_vus_v2/do.sh +++ b/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_vus_v2/do.sh @@ -4,25 +4,16 @@ csv=$1 # suggested not to use more than 50, otherwise you need to chage the figuresize; # for more information about available options: python dot_plot.py -h # Germline VUS classification results: -python dot_plot_v2.py -i $csv -x 50 -pltD -pltR -pltC conflicting uncertain -vep -lgof -cct germline -v dictionary.csv -o dot_plot_vus_germline -mv mechanistic_indicators_out.csv mechanistic_indicators_out_vus_germline.csv -mv log.txt log_vus_germline.txt -python lolliplot.py -i mechanistic_indicators_out_vus_germline.csv -x 50 -s -mv lolliplot.pdf lolliplot_vus_germline.pdf -python filter_pLDDT.py -i $csv -m mechanistic_indicators_out_vus_germline.csv -t 70 -o mech_plddt_vus_germline +python dot_plot_v2.py -i $csv -x 50 -pltD -pltR -pltC conflicting uncertain -vep -lgof -cct germline -v dictionary.csv -o dot_plot_germline +python lolliplot.py -i mechanistic_indicators_out_germline.csv -x 50 -s -o lolliplot_germline +python filter_pLDDT.py -i $csv -m mechanistic_indicators_out_germline.csv -t 70 -o mech_plddt_germline # Oncogenicity VUS classification results: -python dot_plot_v2.py -i $csv -x 50 -pltD -pltR -pltC conflicting uncertain -vep -lgof -cct oncogenicity -v oncodict.csv -o dot_plot_vus_oncogenicity -mv mechanistic_indicators_out.csv mechanistic_indicators_out_vus_oncogenicity.csv -mv log.txt log_vus_oncogenicity.txt -python lolliplot.py -i mechanistic_indicators_out_vus_oncogenicity.csv -x 50 -mv lolliplot.pdf lolliplot_vus_oncogenicity.pdf -python filter_pLDDT.py -i $csv -m mechanistic_indicators_out_vus_oncogenicity.csv -t 70 -o mech_plddt_vus_oncogenicity +python dot_plot_v2.py -i $csv -x 50 -pltD -pltR -pltC conflicting uncertain -vep -lgof -cct oncogenicity -v oncodict.csv -o dot_plot_oncogenicity +python lolliplot.py -i mechanistic_indicators_out_oncogenicity.csv -x 50 -s -o lolliplot_oncogenicity +python filter_pLDDT.py -i $csv -m mechanistic_indicators_out_oncogenicity.csv -t 70 -o mech_plddt_oncogenicity # Clinical impact VUS classification results: -python dot_plot_v2.py -i $csv -x 50 -pltD -pltR -pltC conflicting unknown -vep -lgof -cct clinical_impact -v clinicaldict.csv -o dot_plot_vus_clinical_impact -mv mechanistic_indicators_out.csv mechanistic_indicators_out_vus_clinical_impact.csv -mv log.txt log_vus_clinical_impact.txt -python lolliplot.py -i mechanistic_indicators_out_vus_clinical_impact.csv -x 50 -mv lolliplot.pdf lolliplot_vus_clinical_impact.pdf -python filter_pLDDT.py -i $csv -m mechanistic_indicators_out_vus_clinical_impact.csv -t 70 -o mech_plddt_vus_clinical_impact \ No newline at end of file +python dot_plot_v2.py -i $csv -x 50 -pltD -pltR -pltC conflicting unknown -vep -lgof -cct clinical_impact -v clinicaldict.csv -o dot_plot_clinical_impact +python lolliplot.py -i mechanistic_indicators_out_clinical_impact.csv -x 50 -s -o lolliplot_clinical_impact +python filter_pLDDT.py -i $csv -m mechanistic_indicators_out_clinical_impact.csv -t 70 -o mech_plddt_clinical_impact \ No newline at end of file diff --git a/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_vus_v2/dot_plot_v2.py b/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_vus_v2/dot_plot_v2.py index 3c6c43d..07855bb 100755 --- a/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_vus_v2/dot_plot_v2.py +++ b/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_vus_v2/dot_plot_v2.py @@ -2188,7 +2188,7 @@ def main(): ############################### SUMMARY ############################### # Write summary output file - with open('log.txt', 'w') as out: + with open(f'log_{args.clinvar_class_type}.txt', 'w') as out: summary, summary_df = generate_summary(data = dataframe, d_cutoff = args.demask_threshold, r_cutoff = args.revel_threshold, @@ -2232,7 +2232,7 @@ def main(): ################################# AM CSV ################################# filtered_am = filter_vep_summary(summary_df, classification_df, args.AMx, args.adf) - filtered_am.to_csv('mechanistic_indicators_out.csv', index=True) + filtered_am.to_csv(f'mechanistic_indicators_out_{args.clinvar_class_type}.csv', index=True) if __name__ == '__main__': main() diff --git a/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_vus_v2/lolliplot.py b/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_vus_v2/lolliplot.py index a7df629..c2f3a95 100644 --- a/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_vus_v2/lolliplot.py +++ b/downstream_analysis_mavisp_templates/new_entry_templates/dotplot_vus_v2/lolliplot.py @@ -279,6 +279,11 @@ def main(): dest = "save_png", action = 'store_true', help = "Save individual plots as PNGs") + parser.add_argument('-o', + dest="output_prefix", + default="lolliplot", + type=str, + help="Output filename prefix. Default: lolliplot") args = parser.parse_args() # Logging configuration @@ -310,10 +315,10 @@ def main(): save_png = False # Save plots - with PdfPages("lolliplot.pdf") as pdf: + with PdfPages(f"{args.output_prefix}.pdf") as pdf: for i, figure in enumerate(figures): if save_png: - figure.savefig(f'lolliplot_{i}.png', + figure.savefig(f'{args.output_prefix}_{i}.png', dpi=300, bbox_inches='tight') figure.savefig(pdf, diff --git a/lollipop_plot/lolliplot.py b/lollipop_plot/lolliplot.py index a7df629..c2f3a95 100755 --- a/lollipop_plot/lolliplot.py +++ b/lollipop_plot/lolliplot.py @@ -279,6 +279,11 @@ def main(): dest = "save_png", action = 'store_true', help = "Save individual plots as PNGs") + parser.add_argument('-o', + dest="output_prefix", + default="lolliplot", + type=str, + help="Output filename prefix. Default: lolliplot") args = parser.parse_args() # Logging configuration @@ -310,10 +315,10 @@ def main(): save_png = False # Save plots - with PdfPages("lolliplot.pdf") as pdf: + with PdfPages(f"{args.output_prefix}.pdf") as pdf: for i, figure in enumerate(figures): if save_png: - figure.savefig(f'lolliplot_{i}.png', + figure.savefig(f'{args.output_prefix}_{i}.png', dpi=300, bbox_inches='tight') figure.savefig(pdf,