Table 1 Summary of protein functions and cancers for the top mutated MutFam genes having some other supporting evidence. Genes in bold were also identified in either CGC or Miller.
General Function | Genes | Cancers |
|---|---|---|
Apoptosis | BCL6 | DLBC |
Chromatin SWI/SNF complex | ATRX, SMARCA4 | GLI, PAAD |
Chromatin other | CTCF | UCEC |
Genome integrity | TP53, CHEK2 | BLCA, BRCA, COAD, DLBC, ESCA, GBM, GLI, KIRC, LAML, LGG, LIHC, LUAD, LUSC, OV, PAAD, PRAD, READ, SKCM, STAD, UCEC, UCS |
MAPK signalling | BRAF, DUSP1, DUSP10, DUSP5, DUSP6, DUSP7, DUSP19 | COAD, GLI, LGG, LUAD, READ, SKCM, THCA |
Metabolism | IDH1, IDH2, MYH4, PGM5, POLE | GLI, LAML, LGG, SKCM, STAD, UCEC |
NFKB signalling | MYD88 | DLBC |
NOTCH signalling | NOTCH1, NOTCH2, NOTCH4 | GLI, LGG, LUAD |
PI3K signalling | AKT1, PIK3CA, PIK3CB, PIK3R1, PTEN | BLCA, BRCA, COAD, ESCA, GBM, GLI, KIRC, LGG, LIHC, LUAD, LUSC, READ, SKCM, UCEC |
RTK signalling | BMPR1A, EGFR, ERBB2, FGFR2, FLT3, KDR, KIT, MET, RET, BMPR2, EPHA7, EPHB1, EPHB3 | BLCA, BRCA, COAD, GBM, GLI, LAML, LUAD, OV, SKCM |
TGFB signalling | CBL, SMAD4, TGFBR2, ARHGEF18 | COAD, ESCA, PAAD, READ, SKCM, STAD |
TOR signalling | STK11 | LUAD |
Signalling including RAS | CDH1, FAT4, HRAS, KRAS, NRAS, PTPN11, RAC1, RAP2C, TSHR, CDH5, DCC, GRIK1, GRIK2, GRIK4, HLA-DQB1, ITSN1, KALRN, NET1, NGEF, OBSCN, PLEC, PLXNA1, PLXNA2, PLXNA4, RALA, RIT2, ROBO1, UNC5C, UNC5D, VAV2 | BLCA, BRCA, COAD, KIRC, LAML, LIHC, LUAD, PAAD, READ, SKCM, STAD, THCA, UCEC |
Cadherins | PCDHA7, PCDHA10, PCDHA11, PCDHB11, PCDHB15, PCDHB4, PCDHB5, PCDHB6, PCDHB7, PCDHGA12, PCDHA1, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHB10, PCDHB12, PCDHB14, PCDHB16, PCDHB2, PCDHB3, PCDHGA1, PCDHGA2, PCDHGA3, PCDHGA6, PCDHA6, PCDHA8, PCDHA9, PCDHB13, PCDHB8 | BLCA, BRCA, COAD, ESCA, GLI, LAML, LIHC, LUAD, LUSC, OV, PRAD, READ, SKCM, STAD, THCA |
Protein homeostasis/ubiquitination | BAP1, FBXW7, SPOP, VHL | BLCA, COAD, KIRC, LUSC, PRAD, READ, SKCM, STAD, UCEC, UCS |
Splicing | SF3B1 | BRCA, PAAD |
Transcription factors | CIC, EZH2, FOXA1, FOXJ1, FOXK1, FOXK2, FOXL2, HIF1A, LZTR1, WT1, ZNF107, ZNF189, ZNF333, ZNF560, CELSR2, DUSP22, ZNF100, ZNF138, ZNF267, ZNF429, ZNF43, ZNF430, ZNF431, ZNF479, ZNF492, ZNF506, ZNF585A, ZNF585B, ZNF676, ZNF708, ZNF714, ZNF83, ZNF98 | BLCA, BRCA, COAD, DLBC, GBM, GLI, LGG, LIHC, LUSC, READ, SKCM, THCA, UCEC |
Other | CSMD1, SEC. 24 C, DSP, EPPK1, SSH1, SSH3, TTN | BLCA, COAD, LIHC, LUAD, READ, SKCM, THCA |
