Table 5.
Function of mutation-damaged genes
| Genes | Function | Mutation type |
|---|---|---|
| ABLIM2 |
Actin binding |
nonsynonymous SNV |
| BPTF |
Transcriptional regulation |
nonsynonymous SNV |
| CACNB3 |
Calcium channel |
nonsynonymous SNV |
| CHCHD1 |
Nuclear protein |
nonsynonymous SNV |
| CLCN4 |
Chloride channel |
nonsynonymous SNV |
| CUL4B |
Polyubiquitination |
stop gain |
| FOXP1 |
Transcriptional regulation |
nonsynonymous SNV |
| GSTK1 |
Cellular detoxification |
nonsynonymous SNV |
| ITGA1 |
Cell-cell adhesion |
nonsynonymous SNV |
| KCTD8 |
Potassium channel |
nonsynonymous SNV |
| LACRT |
Lacrimal gland development |
nonsynonymous SNV |
| LAT |
TCR - and pre-TCR-mediated signaling |
nonsynonymous SNV |
| PAMR1 |
Muscle regeneration |
nonsynonymous SNV |
| PHKG2 |
Phosphorylase kinase for glycogenesis |
nonsynonymous SNV |
| SEMA3C |
Developmental regulation |
nonsynonymous SNV |
| SRA1 |
Nuclear and non-nuclear receptor Regulation |
nonsynonymous SNV |
| TBC1D22B |
Unknown |
nonsynonymous SNV |
| TMPRSS7 |
Serine protease for peptide hydrolyzes |
nonsynonymous SNV |
| TTN |
Structural protein for chromosomes |
stop gain |
| UEVLD |
Unknown |
nonsynonymous SNV |
| ZNF24 |
Transcriptional regulation |
nonsynonymous SNV |
| ZNF304 |
Transcriptional regulation |
nonsynonymous SNV |
| ZNF674 | Transcriptional regulation | nonsynonymous SNV |