Table 1. Somatic mutations in the components of MAP kinase, Wnt/β-catenin and NF-κB Signaling pathways in GBCs.
Genes | Mutation types | Allele change | Amino acid change | Case No. | Pathways |
---|---|---|---|---|---|
ADAM12 | Nonsynonymous | Exon16: c.1619-7G > C |
Splicing | T7 | MAP kinase |
KRAS | Nonsynonymous | Exon3: c.183A > T |
p.Q61H | T16 | MAP kinase |
MAPKBP1 | Nonsynonymous | Exon30: c.3722C > T |
p.P1241L | T9 | MAP kinase |
Nonsynonymous | Exon29: c.3704C > T |
p.P1235L | T9 | MAP kinase | |
MAX | Nonsynonymous | Exon3: c.202A > G |
p.K68E | T36 | MAP kinase |
Nonsynonymous | Exon4: c.229A > G |
p.K77E | T36 | MAP kinase | |
NF1 | Nonsynonymous | Exon14: c.1641+1G >A |
Splicing | T4,16,17 | MAP kinase |
Nonsynonymous | Exon52: c.7676-2A>T |
Splicing | T4,16,17 | MAP kinase | |
Nonsynonymous | Exon53: c.7739-2A>T |
Splicing | T4,16,17 | MAP kinase | |
Nonsynonymous | Exon15: c.1645C > G |
p.L549V | T4,16,17 | MAP kinase | |
PDGFRA | Nonsynonymous | Exon17: c.2381A > G |
p.D794G | T7 | MAP kinase |
RRAD | Nonsynonymous | Exon4: c.371-8C > T |
Splicing | T30 | MAP kinase |
APC | Frameshift deletion | Exon16: c.4385_4388del |
p.1462_1463del | T14 | Wnt/β-catenin |
Frameshift deletion | Exon14: c.4331_4334del |
p.1444_1445del | T14 | Wnt/β-catenin | |
Frameshift deletion | Exon17: c.4385_4388del |
p.1462_1463del | T14 | Wnt/β-catenin | |
CCND1 | Nonsynonymous | Exon4: c.718G > A |
p.D240N | T9 | Wnt/β-catenin |
CTNNA1 | Stopgain SNV | Exon3: c.265G > T |
p.E89X | T9 | Wnt/β-catenin |
CTNNB1 | Nonsynonymous | Exon3: c.134C > T |
p.S45F | T16,17 | Wnt/β-catenin |
CARD10 | Nonsynonymous | Exon20: c.3077G > A |
p.C1026Y | T7 | NF-κB |
CARD11 | Nonsynonymous | Exon25: c.3260+3A>G |
Splicing | T9 | NF-κB |
IRAK2 | Nonsynonymous | Exon12: c.1511G > A |
p.R504Q | T9 | NF-κB |
PDCD11 | Nonsynonymous | Exon18: c.2524G > A |
p.E842K | T16 | NF-κB |
RELA | Stopgain SNV | Exon3: c.115G > T |
p.E39X | T14 | NF-κB |