Table 2. Protein domain with significant enrichment of cancer-related variations.
| No | Pfam | Name | Function | crVARs | p value |
|---|---|---|---|---|---|
| 1 | PF00870 | P53 | DNA binding, transcription factor activity | 1,024 | 2.06E-71 |
| 2 | PF00782 | DSPc | protein tyrosine/serine/threonine phosphatase activity | 240 | 2.63E-27 |
| 3 | PF01847 | VHL | protein ubiquitination | 213 | 3.25E-26 |
| 4 | PF00071 | Ras | 250 | 3.19E-25 | |
| 5 | PF02460 | Patched | hedgehog receptor activity | 155 | 1.13E-23 |
| 6 | PF08477 | Miro | GTP binding, small GTPase mediated signal transduction | 237 | 1.32E-23 |
| 7 | PF03166* | MH2 | regulation of transcription, DNA-dependent | 135 | 2.34E-20 |
| 8 | PF07710 | P53_tetramer | zinc ion binding, transcription factor activity, negative regulation of cell growth | 76 | 1.27E-10 |
| 9 | PF05053* | Menin | 162 | 1.21E-06 | |
| 10 | PF07714* | Pkinase_Tyr | protein-tyrosine kinase activity, ATP binding | 588 | 1.16E-05 |
| 11 | PF00023 | Ank | 45 | 1.79E-03 | |
| 12 | PF00853 | Runt | DNA binding, transcription factor activity | 32 | 2.03E-03 |
*
Pfam domains that are significantly over-represented in the proteins with cancer-related variations (crVARs).