Cancer genes with splicing mutations.
This table is a list of the cancer genes that are characterised by splicing mutations. Where an inversion/large deletion has been shown to result in a fusion protein these have been listed under translocations. The full version of this table can be downloaded here .This is part of Table 1 in Futreal et al.
| Symbol | Name | Entrez GeneID | Tumour Types (Somatic Mutations) | Tumour Types (Germline Mutations) | Cancer Syndrome | Synonyms |
|---|---|---|---|---|---|---|
| APC | adenomatous polyposis of the colon gene | 324 | colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS | colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS | Adenomatous polyposis coli; Turcot syndrome | 324, APC, CCDS4107.1, DP2, DP2_5, DP3, ENSG00000134982, FAP, FPC, GS, P25054 |
| ARID1A | AT rich interactive domain 1A (SWI-like) | 8289 | clear cell ovarian carcinoma, RCC | 8289, ARID1A, B120, BAF250, BAF250a, BM029, C1orf4, ENSG00000117713, P270, RP1-50O24_1, SMARCF1 | ||
| ARID2 | AT rich interactive domain 2 | 196528 | hepatocellular carcinoma | 196528, ARID2, BAF200, CCDS31783.1, DKFZp686G052, DKFZp779P0222, ENSG00000189079, FLJ30619, KIAA1557, Q15KG9, Q4G0S8, Q68CP9, Q8NBP1, Q8WV72, Q96DQ8, Q96SQ4, p200 | ||
| ATM | ataxia telangiectasia mutated | 472 | T-PLL | leukemia, lymphoma, medulloblastoma, glioma | Ataxia-telangiectasia | 472, AT1, ATA, ATC, ATD, ATDC, ATE, ATM, DKFZp781A0353, ENSG00000149311, MGC74674, Q13315, TEL1, TELO1 |
| BAP1 | BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) | 8314 | uveal melanoma, breast, NSCLC, RCC | mesothelioma, uveal melanoma | 8314, BAP1, CCDS2853.1, DKFZp686N04275, ENSG00000163930, FLJ35406, FLJ37180, HUCEP-13, KIAA0272, Q92560, hucep-6 | |
| BCOR | BCL6 corepressor | 54880 | retinoblastoma, AML, APL(translocation) | 54880, ANOP2, BCOR, CCDS14250.1, ENSG00000183337, FLJ20285, FLJ38041, KIAA1575, MAA2, MCOPS2, MGC131961, MGC71031 | ||
| BRCA1 | familial breast/ovarian cancer gene 1 | 672 | ovarian | breast, ovarian | Hereditary breast/ovarian cancer | 672, BRCA1, BRCAI, BRCC1, ENSG00000012048, IRIS, PSCP, RNF53 |
| BRCA2 | familial breast/ovarian cancer gene 2 | 675 | breast, ovarian, pancreatic | breast, ovarian, pancreatic, leukemia (FANCB, FANCD1) | Hereditary breast/ovarian cancer | 675, BRCA2, BRCC2, ENSG00000139618, FACD, FAD, FAD1, FANCB, FANCD, FANCD1, RP11-298P3_4 |
| BUB1B | BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast) | 701 | rhabdomyosarcoma | Mosaic variegated aneuploidy | 701, BUB1B, BUB1beta, BUBR1, Bub1A, CCDS10053.1, ENSG00000156970, MAD3L, O60566, SSK1, hBUBR1 | |
| CBL | Cas-Br-M (murine) ecotropic retroviral transforming | 867 | AML, JMML, MDS | 867, C-CBL, CBL, CBL2, CCDS8418.1, ENSG00000110395, RNF55 | ||
| CBLB | Cas-Br-M (murine) ecotropic retroviral transforming sequence b | 868 | AML | 868, CBLB, CCDS2948.1, DKFZp686J10223, DKFZp779A0729, DKFZp779F1443, ENSG00000114423, FLJ36865, FLJ41152, Nbla00127, RNF56 | ||
| CD79A | CD79a molecule, immunoglobulin-associated alpha | 973 | DLBCL | 973, CCDS12589.1, CD79A, ENSG00000105369, IGA, MB-1, P11912, Q53FB8 | ||
| CDH1 | cadherin 1, type 1, E-cadherin (epithelial) (ECAD) | 999 | lobular breast, gastric | gastric | Familial gastric carcinoma | 999, Arc-1, CCDS10869.1, CD324, CDH1, CDHE, ECAD, ENSG00000039068, LCAM, P12830, UVO, uvomorulin |
| CDKN2A | cyclin-dependent kinase inhibitor 2A (p16(INK4a)) gene | 1029 | melanoma, multiple other tumour types | melanoma, pancreatic | Familial malignant melanoma | 1029, ARF, CDK4I, CDKN2, CDKN2A, CMM2, ENSG00000147889, INK4, INK4a, MLM, MTS1, P42771, TP16, p14, p14ARF, p16, p16INK4, p16INK4a, p19 |
| CDKN2a(p14) | cyclin-dependent kinase inhibitor 2A-- p14ARF protein | 1029 | melanoma, multiple other tumour types | melanoma, pancreatic | Familial malignant melanoma | 1029, ARF, CCDS6511, CDK4I, CDKN2, CDKN2a(p14), CMM2, ENSG00000147889, INK4, INK4a, MLM, MTS1, Q5ZEY9, Q8N726, TP16, p14, p14ARF, p16, p16INK4, p16INK4a, p19 |
| CIC | capicua homolog | 23152 | oligodendroglioma | 23152, CCDS12601.1, CIC, ENSG00000079432, KIAA0306, Q96RK0 | ||
| CYLD | familial cylindromatosis gene | 1540 | cylindroma | cylindroma | Familial cylindromatosis | 1540, CDMT, CYLD, CYLD1, CYLDI, EAC, ENSG00000083799, FLJ20180, FLJ31664, HSPC057, KIAA0849, USPL2 |
| DNM2 | dynamin 2 | 1785 | ETP ALL | 1785, CCDS32907.1, CMTDI1, CMTDIB, DNM2, DYN2, DYNII, ENSG00000079805, Q9UPH5 | ||
| DNMT3A | DNA (cytosine-5-)-methyltransferase 3 alpha | 1788 | AML | 1788, CCDS33157.1, DNMT3A, DNMT3A2, ENSG00000119772, M_HsaIIIA, Q59HC6, Q6PJ37, Q86TE8, Q86XF5, Q8IZV0, Q8WVA9, Q9Y6K1 | ||
| ECT2L | epithelial cell transforming sequence 2 oncogene-like | 345930 | ETP ALL | 345930, C6orf91, CCDS43508.1, ECT2L, ENSG00000203734, LFDH, Q008S8, dJ509I19_2, dJ509I19_3 | ||
| ERCC2 | excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D) | 2068 | skin basal cell, skin squamous cell, melanoma | Xeroderma pigmentosum (D) | 2068, CCDS33049.1, COFS2, EM9, ENSG00000104884, ERCC2, MAG, MGC102762, MGC126218, MGC126219, P18074, Q2TB78, Q7KZU6, TTD, XPD | |
| ERCC3 | excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) | 2071 | skin basal cell, skin squamous cell, melanoma | Xeroderma pigmentosum (B) | 2071, BTF2, CCDS2144.1, ENSG00000163161, ERCC3, GTF2H, P19447, Q53HW5, Q53QM0, RAD25, TFIIH, XPB | |
| EXT1 | multiple exostoses type 1 gene | 2131 | exostoses, osteosarcoma | Multiple Exostoses Type 1 | 2131, CCDS6324.1, ENSG00000182197, EXT, EXT1, Q16394, ttv | |
| EXT2 | multiple exostoses type 2 gene | 2132 | exostoses, osteosarcoma | Multiple Exostoses Type 2 | 2132, CCDS7908.1, ENSG00000151348, EXT2, Q6NUL1, Q93063, SOTV | |
| FANCA | Fanconi anemia, complementation group A | 2175 | AML, leukemia | Fanconi anaemia A | 2175, ENSG00000187741, FA, FA-H, FA1, FAA, FACA, FAH, FANCA, FANCH, MGC75158 | |
| FANCC | Fanconi anemia, complementation group C | 2176 | AML, leukemia | Fanconi anaemia C | 2176, ENSG00000158169, FA3, FAC, FACC, FANCC, FLJ14675, RP11-80I15_2 | |
| FANCE | Fanconi anemia, complementation group E | 2178 | AML, leukemia | Fanconi anaemia E | 2178, CCDS4805.1, ENSG00000112039, FACE, FAE, FANCE | |
| FANCG | Fanconi anemia, complementation group G | 2189 | AML, leukemia | Fanconi anaemia G | 2189, CCDS6574.1, ENSG00000221829, FAG, FANCG, O15287, Q53XM5, XRCC9 | |
| GATA3 | GATA binding protein 3 | 2625 | breast | 2625, CCDS31143.1, ENSG00000107485, GATA3, HDR, MGC2346, MGC5199, MGC5445, Q5VWG7 | ||
| GPC3 | glypican 3 | 2719 | Wilms tumour | Simpson-Golabi-Behmel syndrome | 2719, AC002420_1, CCDS14638.1, DGSX, ENSG00000147257, GPC3, OCI-5, P51654, Q1MTS4, Q2L880, Q53H15, Q8IYG2, SDYS, SGB, SGBS, SGBS1 | |
| GRAF | GTPase regulator associated with focal adhesion kinase pp125(FAK) | 23092 | AML, MDS | 23092, ARHGAP26, ENSG00000145819, FLJ42530, GRAF, KIAA0621, OPHN1L, OPHN1L1 | ||
| KDM5C | lysine (K)-specific demethylase 5C (JARID1C) | 8242 | clear cell renal carcinoma | 8242, DXS1272E, ENSG00000126012, JARID1C, KDM5C, MRXJ, MRXSJ, RP11-258C19_2, SMCX, XE169 | ||
| KDM6A | lysine (K)-specific demethylase 6A, UTX | 7403 | renal, oesophageal SCC, MM | 7403, CCDS14265.1, DKFZp686A03225, ENSG00000147050, KDM6A, MGC141941, O15550, Q52LL9, Q590H7, Q59HG3, Q5JV43, Q68D33, Q6N053, RP13-886N14_3, UTX, bA386N14_2 | ||
| MED12 | mediator complex subunit 12 | 9968 | uterine leiomyoma | 9968, ARC240, CAGH45, CCDS43970, FGS1, HOPA, KIAA0192, MED12, MED12_ENST00000374080, OKS, OPA1, Q7Z2E0, Q7Z2F1, Q7Z2F4, Q93074, TNRC11, TRAP230 | ||
| MEN1 | multiple endocrine neoplasia type 1 gene | 4221 | parathyroid tumors, Pancreatic neuroendocrine tumors | parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid | Multiple Endocrine Neoplasia Type 1 | 4221, CCDS31600.1, ENSG00000133895, MEN1, Q9BUF0, Q9GZQ5, Q9UE24 |
| MLH1 | E.coli MutL homolog gene | 4292 | colorectal, endometrial, ovarian, CNS | colorectal, endometrial, ovarian, CNS | Hereditary non-polyposis colorectal cancer, Turcot syndrome | 4292, CCDS2663.1, COCA2, ENSG00000076242, FCC2, HNPCC, HNPCC2, MGC5172, MLH1, P40692, Q0ZAJ3, Q0ZAJ6, Q53GX1, Q5GJ64, Q64FK0, Q6VBB8, hMLH1 |
| MSH2 | mutS homolog 2 (E. coli) | 4436 | colorectal, endometrial, ovarian | colorectal, endometrial, ovarian | Hereditary non-polyposis colorectal cancer | 4436, CCDS1834.1, COCA1, ENSG00000095002, FCC1, HNPCC, HNPCC1, MSH2, P43246, Q0ZAI9, Q0ZAJ1, Q53FK0, Q53GS1, Q53RU4, Q6VBB7 |
| MSH6 | mutS homolog 6 (E. coli) | 2956 | colorectal | colorectal, endometrial, ovarian | Hereditary non-polyposis colorectal cancer | 2956, CCDS1836.1, ENSG00000116062, GTBP, HNPCC5, HSAP, MSH6, P52701, Q1L838, Q3SWU9 |
| NF1 | neurofibromatosis type 1 gene | 4763 | neurofibroma, glioma | neurofibroma, glioma | Neurofibromatosis type 1 | 4763, ENSG00000196712, NF1, NFNS, P21359, Q14931, Q4W6X4, Q7Z3J5, Q9UMU3 |
| NF2 | neurofibromatosis type 2 gene | 4771 | meningioma, acoustic neuroma, renal | meningioma, acoustic neuroma | Neurofibromatosis type 2 | 4771, ACN, BANF, CCDS13861.1, ENSG00000186575, Merlin, NF2, P35240, Q9NRW8, SCH |
| PAX5 | paired box gene 5 (B-cell lineage specific activator protein) | 5079 | NHL, ALL, B-ALL | 5079, BSAP, CCDS6607.1, ENSG00000196092, PAX5, Q02548, Q5VVI9 | ||
| PBRM1 | polybromo 1 | 55193 | clear cell renal carcinoma, breast | 55193, BAF180, C9J053, C9J409, C9J9L6, C9JCJ2, C9JPI5, C9JQF1, CCDS2860, MGC156155, MGC156156, PB1, PBRM1, Q6IRX1, Q9NUX9 | ||
| PHF6 | PHD finger protein 6 | 84295 | ETP ALL | 84295, BORJ, ENSG00000156531, MGC14797, PHF6 | ||
| PRDM1 | PR domain containing 1, with ZNF domain | 639 | DLBCL | 639, BLIMP1, CCDS5054, ENSG00000057657, MGC118922, MGC118923, MGC118924, MGC118925, O75626, PRDI-BF1, PRDM1, Q5T4E8, Q658W0, RP1-134E15_1 | ||
| PRKAR1A | protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1) | 5573 | papillary thyroid | myxoma, endocrine, papillary thyroid | Carney complex | 5573, CAR, CCDS11678.1, CNC, CNC1, DKFZp779L0468, ENSG00000108946, MGC17251, P10644, PKR1, PPNAD1, PRKAR1, PRKAR1A, Q68DQ4, Q96P62, TSE1 |
| PTCH | Homolog of Drosophila Patched gene | 5727 | skin basal cell , medulloblastoma | skin basal cell, medulloblastoma | Nevoid Basal Cell Carcinoma Syndrome | 5727, BCNS, CCDS6714.1, ENSG00000185920, FLJ26746, FLJ42602, HPE7, NBCCS, PTC, PTC1, PTCH, PTCH1, Q13635, Q59FG5, Q5R1U7, Q5R1V0, Q5VZC2, Q6TKP8, Q6TKP9, Q6TKQ0, Q86XG7, RP11-435O5_3 |
| PTEN | phosphatase and tensin homolog gene | 5728 | glioma, prostate, endometrial | harmartoma, glioma, prostate, endometrial | Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome | 5728, BZS, ENSG00000171862, MGC11227, MHAM, MMAC1, P60484, PTEN, PTEN1, TEP1 |
| RB1 | retinoblastoma gene | 5925 | retinoblastoma, sarcoma, breast, small cell lung | retinoblastoma, sarcoma, breast, small cell lung | Familial retinoblastoma | 5925, ENSG00000139687, OSRC, P06400, RB, RB1 |
| RECQL4 | RecQ protein-like 4 | 9401 | osteosarcoma, skin basal and sqamous cell | Rothmund-Thompson Syndrome | 9401, ENSG00000160957, RECQ4, RECQL4, RTS, RecQ4 | |
| SDHD | succinate dehydrogenase complex, subunit D, integral membrane protein | 6392 | paraganglioma, pheochromocytoma | Familial paraganglioma | 6392, CBT1, CCDS31678.1, ENSG00000204370, O14521, PGL, PGL1, Q53XW5, SDH4, SDHD | |
| SETD2 | SET domain containing 2 | 29072 | clear cell renal carcinoma | 29072, ENSG00000181555, SETD2 | ||
| SMARCB1 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 | 6598 | malignant rhabdoid | malignant rhabdoid | Rhabdoid predisposition syndrome | 6598, BAF47, CCDS13817.1, ENSG00000099956, INI1, Ini1, Q12824, RDT, SMARCB1, SNF5, SNF5L1, Sfh1p, Snr1, hSNFS |
| STK11 | serine/threonine kinase 11 gene (LKB1) | 6794 | NSCLC, pancreatic | jejunal harmartoma, ovarian, testicular, pancreatic | Peutz-Jeghers syndrome | 6794, ENSG00000118046, LKB1, PJS, Q15831, STK11 |
| SUFU | suppressor of fused homolog (Drosophila) | 51684 | medulloblastoma | medulloblastoma | Medulloblastoma predisposition | 51684, CCDS7537.1, ENSG00000121410, PRO1280, Q5JSM1, Q5JWB5, Q9UMX1, RP11-47A8_1, SUFU, SUFUH, SUFUXL |
| TSC1 | tuberous sclerosis 1 gene | 7248 | hamartoma, renal cell | Tuberous sclerosis 1 | 7248, ENSG00000165699, KIAA0243, LAM, MGC86987, TSC, TSC1, hamartin | |
| TSC2 | tuberous sclerosis 2 gene | 7249 | hamartoma, renal cell | Tuberous sclerosis 2 | 7249, CCDS10458.1, ENSG00000103197, FLJ43106, LAM, TSC2, TSC4, tuberin | |
| VHL | von Hippel-Lindau syndrome gene | 7428 | renal, hemangioma, pheochromocytoma | renal, hemangioma, pheochromocytoma | von Hippel-Lindau syndrome | 7428, A0PJF6, CCDS2597.1, ENSG00000134086, HRCA1, P40337, RCA1, VHL, VHL1 |
| WAS | Wiskott-Aldrich syndrome | 7454 | lymphoma | Wiskott-Aldrich syndrome | 7454, CCDS14303.1, ENSG00000015285, IMD2, P42768, THC, WAS, WASP | |
| WRN | Werner syndrome (RECQL2) | 7486 | osteosarcoma, meningioma, others | Werner Syndrome | 7486, A1KYY9, CCDS6082.1, ENSG00000165392, Q14191, Q59F09, RECQ3, RECQL2, WRN | |
| WT1 | Wilms tumour 1 gene | 7490 | Wilms, desmoplastic small round cell tumor | Wilms | Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor | 7490, ENSG00000184937, GUD, WAGR, WIT-2, WT1, WT33 |
| XPA | xeroderma pigmentosum, complementation group A | 7507 | skin basal cell, skin squamous cell, melanoma | Xeroderma pigmentosum (A) | 7507, CCDS6729.1, ENSG00000136936, P23025, Q5T1U9, Q6LD02, XP1, XPA, XPAC | |
| XPC | xeroderma pigmentosum, complementation group C | 7508 | skin basal cell, skin squamous cell, melanoma | Xeroderma pigmentosum (C) | 7508, ENSG00000154767, XP3, XPC, XPCC | |
| ZRSR2 | zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2 | 8233 | MDS, CLL | 8233, ENSG00000169249, MGC142014, MGC142040, U2AF1-RS2, U2AF1L2, U2AF1RS2, URP, ZRSR2 |
A, amplification; AEL, acute eosinophilic leukemia; AL, acute leukemia; ALCL, anaplastic large-cell lymphoma; ALL, acute lymphocytic leukemia; AML, acute myelogenous leukemia; AML*, acute myelogenous leukemia (primarily treatment associated); APL, acute promyelocytic leukemia; B-ALL, B-cell acute lymphocytic leukaemia; B-CLL, B-cell Lymphocytic leukemia; B-NHL, B-cell Non-Hodgkin Lymphoma; CLL, chronic lymphatic leukemia; CML, chronic myeloid leukemia; CMML, chronic myelomonocytic leukemia; CNS, central nervous system; D, large deletion; DFSP, dermatofibrosarcoma protuberans; DLBL, diffuse large B-cell lymphoma; DLCL, diffuse large-cell lymphoma; Dom, dominant; E, epithelial; F, frameshift; GIST, gastrointestinal stromal tumour; JMML, juvenile myelomonocytic leukemia; L, leukaemia/lymphoma; M, mesenchymal; MALT, mucosa-associated lymphoid tissue lymphoma; MDS, myelodysplastic syndrome; Mis, Missense; MLCLS, mediastinal large cell lymphoma with sclerosis; MM, multiple myeloma; MPD, Myeloproliferative disorder; N, nonsense; NHL, non-Hodgkin lymphoma; NK/T, natural killer T cell; NSCLC, non small cell lung cancer; O, other; PMBL, primary mediastinal B-cell lymphoma; pre-B All, pre-B-cell acute lymphoblastic leukaemia; Rec, recesive; S, splice site; T, translocation; T-ALL, T-cell acute lymphoblastic leukemia; T-CLL, T-cell chronic lymphocytic leukaemia; TGCT, testicular germ cell tumour; T-PLL, T cell prolymphocytic leukaemia;
