Table 2.
Examples of functional important genes with core promoter mutation
| Items | Mutation | Co-promoter position | #Carrier | Expression |
|---|---|---|---|---|
| A. Pathways with core promoter mutated genes | ||||
| Deregulated metabolism | Somatic Germline | |||
| Differentiation | Somatic Germline | |||
| Sustained angiogenesis | Somatic Germline | |||
| Regulation of mitotic cell cycle phase transition | Somatic | |||
| Cellular response to peptide hormone stimulus | Somatic | |||
| Selective advantage | Somatic | |||
| Evading apoptosis | Germline | |||
| Evading the immune system | Germline | |||
| Tissue invasion and metastasis | Germline | |||
| DNA repair | Germline | |||
| B. Examples of cancer related genes | ||||
| TERT | Somatic | −66 | 3 | + 7.5 |
| PRKAR2B | Somatic | 93 | 2 | −6.2 |
| SMUG1 | Germline | 90 | 2 | + 2.1 |
| GAB2 | Germline | −60 | 3 | −2.3 |