Table 2 Mutations of abnormally expressed driver genes
Mutation type | Driver gene | Fraction (%) of tumors with coding mutations | Fraction (%) of tumors with abnormal expressiona | Expression variation explainedb | Methylation-expression associations |
|---|---|---|---|---|---|
Regulatory | FBXW7 | 0 | 100 | Yes | Negative |
SMO | 0 | 95.8 | Yes | Both | |
SOX9 | 0 | 79.2 | Yes | Positive | |
FGFR2 | 0 | 79.2 | Yes | Negative | |
CASP8 | 0 | 70.8 | Yes | Positive | |
TNFAIP3 | 0 | 70.8 | Yes | Both | |
AR | 0 | 70.8 | Yes | Negative | |
CHEK2 | 0 | 66.7 | Yes | Negative | |
H3F3A | 0 | 54.2 | Yes | Both | |
ABL1 | 0 | 45.8 | Yes | Both | |
DAXX | 0 | 29.2 | Yes | Both | |
MSH6 | 0 | 29.2 | Yes | MSH6 | |
ZIC2 | 0 | 12.5 | Yes | Negative | |
JAK1 | 0 | 8.3 | Yes | Both | |
U2AF1 | 0 | 8.3 | Yes | Positive | |
CTNNB1 | 0 | 8.3 | Yes | Negative | |
MLH1 | 0 | 8.3 | Yes | Negative | |
SOCS1 | 0 | 4.2 | Yes | Both | |
SRSF2 | 0 | 4.2 | Yes | Both | |
SMAD2 | 0 | 4.2 | Yes | Negative | |
VHL | 0 | 4.2 | Yes | Negative | |
Regulatory and coding | CDKN2C | 5.3 | 100 | Yes | Negative |
BRCA1 | 21.1 | 83.3 | Yes | Both | |
TRAF7 | 5.3 | 41.7 | Yes | Positive | |
AKT1 | 5.3 | 20.8 | Yes | Positive | |
PBRM1 | 5.3 | 12.5 | Yes | Both | |
MSH2 | 10.5 | 8.3 | Yes | Both | |
FUBP1 | 5.3 | 8.3 | Yes | Negative | |
MEN1 | 5.3 | 4.2 | Yes | Both | |
CREBBP | 10.5 | 4.2 | Yes | Positive | |
PRDM1 | 10.5 | 0.8 | Yes | Both | |
Coding | TP53 | 47.0 | 100 | No | - |