Table 1.
Go Ontologies (from the top biological processes, molecular functions, cellular components) of the mutations with the highest FATHMM score >0.9; the last section shows the relative enrichment of the mutations with the highest FATHMM with respect to a background of low FATHMM score below 0.7
| GO term | Description | P-value | FDR q-value | Enrichment (N,B, n, b) |
|---|---|---|---|---|
| process | ||||
| GO:0090662 | ATP hydrolysis coupled transmembrane transport | 7.30E-68 | 1.07E-63 | 14.24 (16103,65,1079,62) |
| GO:0099131 | ATP hydrolysis coupled ion transmembrane transport | 5.08E-62 | 3.72E-58 | 14.18 (16103,60,1079,57) |
| GO:0044710 | single-organism metabolic process | 1.84E-56 | 8.97E-53 | 2.66 (16103,3086,507,258) |
| GO:0099132 | ATP hydrolysis coupled cation transmembrane transport | 5.61E-53 | 2.06E-49 | 14.61 (16103,48,1079,47) |
| GO:0044281 | small molecule metabolic process | 2.11E-47 | 6.20E-44 | 3.36 (16103,1526,549,175) |
| GO:0019752 | carboxylic acid metabolic process | 2.44E-42 | 5.95E-39 | 4.62 (16103,750,530,114) |
| GO:0006631 | fatty acid metabolic process | 3.57E-41 | 7.47E-38 | 15.96 (16103,262,181,47) |
| GO:0006637 | acyl-CoA metabolic process | 7.30E-40 | 1.34E-36 | 34.72 (16103,82,181,32) |
| GO:0035383 | thioester metabolic process | 7.30E-40 | 1.19E-36 | 34.72 (16103,82,181,32) |
| GO:0043436 | oxoacid metabolic process | 8.82E-39 | 1.29E-35 | 4.16 (16103,855,530,117) |
| GO:0006082 | organic acid metabolic process | 1.20E-38 | 1.59E-35 | 4.11 (16103,872,530,118) |
| GO:0032787 | monocarboxylic acid metabolic process | 2.28E-38 | 2.79E-35 | 5.85 (16103,437,529,84) |
| GO:0044255 | cellular lipid metabolic process | 7.30E-37 | 8.23E-34 | 4.11 (16103,873,507,113) |
| molecular | ||||
| GO:0043492 | ATPase activity, coupled to movement of substances | 1.30E-114 | 5.69E-111 | 14.04 (16121,111,1086,105) |
| GO:0016820 | hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances | 6.49E-102 | 1.42E-98 | 14.18 (16121,98,1079,93) |
| GO:0042626 | ATPase activity, coupled to transmembrane movement of substances | 1.51E-99 | 2.20E-96 | 14.16 (16121,96,1079,91) |
| GO:0015399 | primary active transmembrane transporter activity | 3.07E-97 | 3.37E-94 | 13.87 (16121,98,1079,91) |
| component | ||||
| GO:0044444 | cytoplasmic part | 1.16E-32 | 2.06E-29 | 1.33 (16121,7980,1311,866) |
| GO:0005581 | collagen trimer | 1.69E-26 | 1.50E-23 | 3.90 (16121,84,3100,63) |
| GO:0016469 | proton-transporting two-sector ATPase complex | 5.20E-22 | 3.09E-19 | 13.20 (16121,25,1075,22) |
| GO:0005891 | voltage-gated calcium channel complex | 4.81E-20 | 2.14E-17 | 6.14 (16121,37,2201,31) |
| GO:0034704 | calcium channel complex | 3.39E-18 | 1.21E-15 | 4.93 (16121,54,2241,37) |
| GO:0005759 | mitochondrial matrix | 6.33E-18 | 1.88E-15 | 5.21 (16121,303,470,46) |
| GO:0098533 | ATPase dependent transmembrane transport complex | 1.57E-17 | 4.00E-15 | 13.82 (16121,19,1044,17) |
| GO:1904949 | ATPase complex | 1.04E-16 | 2.31E-14 | 13.13 (16121,20,1044,17) |
| GO:0043190 | ATP-binding cassette (ABC) transporter complex | 1.09E-16 | 2.15E-14 | 240.61 (16121,7,67,7) |
| drivers vs non–drivers | ||||
| GO:0044238 | primary metabolic process | 2.63E-12 | 5.94E-09 | 1.03 (10465,5247,9049,4658) |
| GO:0044237 | cellular metabolic process | 2.85E-12 | 5.53E-09 | 1.03 (10465,5305,9049,4708) |
| GO:0071704 | organic substance metabolic process | 4.81E-12 | 8.16E-09 | 1.03 (10465,5488,9049,4865) |