Table 1 Some instances of overexpressed functional mutant alleles
From: MBASED: allele-specific expression detection in cancer tissues and cell lines
Gene | Mutations (sample) | Affected domain | CN | AI | ASE | Details | |
|---|---|---|---|---|---|---|---|
MAF | P-value (adj.) | ||||||
KRAS | G12C (NSCLC ind. 1) | GTP-binding | Gain | Yes | 0.87 | <1e-6 | Reported in COSMIC, known activating mutations |
G12C (H358) | GTP-binding | Gain | Yes | 0.73 | 1e-2 | ||
G12C (H23) | GTP-binding | Gain | Yes | 0.75 | <1e-6 | ||
G12A (H2009) | GTP-binding | Gain | Yes | 0.66 | 1e-1 | Falls short of significance cutoffs | |
EGFR | Q787K (NSCLC ind. 2) | Kinase | Gain | No | 0.74 | 2e-5 | Both mutations in same sample, on same haplotype. L858R is reported in COSMIC |
L858R (NSCLC ind. 2) | Kinase | Gain | No | 0.74 | 2e-5 | ||
RAD18 | Q59H (HCC ind. 1) | RING-type ZF | Gain | No | 0.75 | 6e-5 | Mutations in this motif results in hypersensitivity to mutagens |
EAF2 | S207F (HCC ind. 1) | Transactivation | Gain | No | 0.77 | 2e-5 | Tumor suppressor (inducer of apoptosis via p53) |
MTOR | V1801G (H522) | FAT | Gain | Yes | 0.88 | 5e-3 | Mutated domain is a binding site for MTOR inhibitor |
MYH9 | K1248N (NSCLC ind. 2) | Coiled coil | Neutral | No | 0.82 | <1e-6 | Outside of CN gain/loss or AI regions |
MYO18A | R426C (HCC ind. 1) | Unannotated | Neutral | No | 0.71 | 4e-2 | |
TIMP1 | R136H (HCC ind. 2) | NTR | Neutral | No | 0.89 | <1e-6 | |
FAS | T319I (HCC ind. 4) | Unannotated | Neutral | No | 0.87 | 7e-3 | |
CCDC50 | T459A (H650) | Unannotated | Neutral | No | 0.82 | <1e-6 | |