Table 4. Recurrent de novo mutated genes.
| Gene symbol | No. of mutated samples (Sample name) | No. of NS mutations | GO Cellular component | GO Biologicalprocess | Previous reports in cancer [PubMed ID] |
| C4orf23 | 2 (Me04,Me05) | 2 | cytoplasm | tRNA processing | |
| PAICS | 2 (Me01,Me02) | 2 | cytoplasm | purine metabolism | ALL [PMID: 15142881], Lung squamous cell carcinoma [PMID: 15246564], Glioblastoma [PMID: 21649900] |
| CNST | 2 (Me01,Me12) | 2 | plasma membrane | Protein transport to membrane | |
| KIF23 | 2 (Me01,Me08) | 2 | nucleus | cytokinesis | Glioma [PMID: 21904957], Hepatocellular carcinoma [PMID: 21825042], NSCLC [PMID: 21412013], KIF20A in melanoma [PMID: 22854760] |
| MRPL1 | 2 (Me01,Me08) | 2 | mitochondrion | translation | |
| MUC19 | 2 (Me01,Me08) | 2 | extracellular region | cell adhesion | Salivary gland tumors [PMID: 21072847], Inflammation [PMID: 19533339, 21983784], MUC1 and MUC4 in lung [PMID: 19318547], breast [PMID: 21277939], prostate [PMID: 16302265], ovarian cancers [PMID: 20697346], melanoma [PMID: 19293191] |
| DCAKD | 2 (Me01,Me04) | 2 | mitochondrion | coenzyme A biosynthetic process | |
| MRPL53 | 2 (Me01,Me04) | 2 | mitochondrion | translation | |
| RBMXL1 | 2 (Me01,Me04) | 4 | nucleus | RNA splicing | Gastric cancer [PMID: 19802518], Breast cancer [PMID: 16552754] |
| ZNF66P | 3 (Me01,Me04, Me05) | 3 | nucleus | regulation of transcription |
Literature is indicated by PubMed ID code (PMID). References in italics concern other members of the same gene family involved in cancer and here reported to support a potential interest for the listed mutated genes.
Abbreviations: NS, non-synonymous; GO, Gene Ontology; ALL, acute lymphoblastic leukemia; NSCLC, non-small cell lung cancer.