Cancer genes that have missense mutations.
This table is a list of the cancer genes that are characterised by missense mutations. 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 |
|---|---|---|---|---|---|---|
| ABL1 | v-abl Abelson murine leukemia viral oncogene homolog 1 | 25 | CML, ALL, T-ALL | 25, ABL, ABL1, ENSG00000097007, JTK7, P00519, bcr/abl, c-ABL, p150, v-abl | ||
| AKT1 | v-akt murine thymoma viral oncogene homolog 1 | 207 | breast, colorectal, ovarian, NSCLC | 207, AKT, AKT1, AKT1_NEW, B0LPE5, B2RAM5, B3KVH4, B3KXD7, B7Z5R1, CCDS9994, ENSG00000142208, MGC99656, P31749, PKB, PKB-ALPHA, PRKBA, Q9BV07, RAC, RAC-ALPHA | ||
| ALK | anaplastic lymphoma kinase (Ki-1) | 238 | ALCL, NSCLC, Neuroblastoma | neuroblastoma | Familial neuroblastoma | 238, ALK, CD246, ENSG00000171094, Q9UM73, TFG/ALK |
| 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 | ||
| ASXL1 | additional sex combs like 1 | 171023 | MDS, CMML | 171023, ASXL1, CCDS13201.1, ENSG00000171456, KIAA0978, MGC117280, MGC71111, Q498B9, Q6P1M8, Q8IXJ9 | ||
| 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 |
| ATRX | alpha thalassemia/mental retardation syndrome X-linked | 546 | Pancreatic neuroendocrine tumors, paediatric GBM | 546, A4LAA3, A8MTN6, ATR2, ATRX, ATRX_ENST00000373344, B4DHH8, B4DLE1, B4DLW1, B7Z1D8, CCDS14434, D3DTE2, MGC2094, MRXHF1, P46100, Q86U63, RAD54, RAD54L, SFM1, SHS, XH2, XNP, ZNF-HX | ||
| 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 | |
| BCL6 | B-cell CLL/lymphoma 6 | 604 | NHL, CLL | 604, BCL5, BCL6, BCL6A, CCDS3289.1, ENSG00000113916, LAZ3, P41182, ZBTB27, ZNF51 | ||
| BHD | folliculin, Birt-Hogg-Dube syndrome | 201163 | renal, fibrofolliculomas, trichodiscomas | Birt-Hogg-Dube syndrome | 201163, BHD, ENSG00000154803, FLCL, FLCN, MGC17998, MGC23445 | |
| BLM | Bloom Syndrome | 641 | leukemia, lymphoma, skin squamous cell , other cancers | Bloom Syndrome | 641, BLM, BS, CCDS10363.1, ENSG00000197299, MGC126616, MGC131618, MGC131620, RECQ2, RECQL2, RECQL3 | |
| BMPR1A | bone morphogenetic protein receptor, type IA | 657 | gastrointestinal polyps | Juvenile polyposis | 657, ACVRLK3, ALK3, BMPR1A, CCDS7378.1, CD292, ENSG00000107779, P36894 | |
| BRAF | v-raf murine sarcoma viral oncogene homolog B1 | 673 | melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma | 673, B-raf 1, B-raf1, BRAF, BRAF1, CCDS5863.1, ENSG00000157764, MGC126806, MGC138284, P15056, RAFB1 | ||
| 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 |
| BRIP1 | BRCA1 interacting protein C-terminal helicase 1 | 83990 | AML, leukemia, breast | Fanconi anaemia J, breast cancer susceptiblity | 83990, BACH1, BRIP1, CCDS11631.1, ENSG00000136492, FANCJ, FLJ90232, MGC126521, MGC126523, OF, Q9BX63 | |
| 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 | |
| CARD11 | caspase recruitment domain family, member 11 | 84433 | DLBCL | 84433, BIMP3, CARD11, CARMA1, CCDS5336.1, ENSG00000198286, MGC133069, Q9BXL7 | ||
| 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 | ||
| CD79B | CD79b molecule, immunoglobulin-associated beta | 974 | DLBCL | 974, B29, CCDS11655.1, CD79B, ENSG00000007312, IGB, P40259 | ||
| 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 |
| CDK12 | cyclin-dependent kinase 12 | 51755 | serous ovarian | 51755, CCDS11337.1, CDK12, CRK7, CRKR, CRKRS, ENSG00000167258, KIAA0904, Q9NYV4 | ||
| CDK4 | cyclin-dependent kinase 4 | 1019 | melanoma | Familial malignant melanoma | 1019, CCDS8953.1, CDK4, CMM3, ENSG00000135446, MGC14458, P11802, PSK-J3 | |
| 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 |
| CEBPA | CCAAT/enhancer binding protein (C/EBP), alpha | 1050 | AML, MDS | 1050, C/EBP-alpha, CEBP, CEBPA, P49715 | ||
| CIC | capicua homolog | 23152 | oligodendroglioma | 23152, CCDS12601.1, CIC, ENSG00000079432, KIAA0306, Q96RK0 | ||
| COPEB | core promoter element binding protein (KLF6) | 1316 | prostate, glioma | 1316, BCD1, CCDS7060.1, COPEB, CPBP, DKFZp686N0199, ENSG00000067082, GBF, KLF6, PAC1, RP11-184A2_1, ST12, ZF9, Zf9 | ||
| CREBBP | CREB binding protein (CBP) | 1387 | ALL, AML, DLBCL, B-NHL | 1387, CBP, CCDS10509.1, CREBBP, ENSG00000005339, RSTS, RTS | ||
| CRLF2 | cytokine receptor-like factor 2 | 64109 | B-ALL, Downs associated ALL | CRLF2, ENSG00000205755, Q4V300 | ||
| CTNNB1 | catenin (cadherin-associated protein), beta 1 | 1499 | colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma | 1499, CCDS2694.1, CTNNB, CTNNB1, ENSG00000168036, P35222 | ||
| CYLD | familial cylindromatosis gene | 1540 | cylindroma | cylindroma | Familial cylindromatosis | 1540, CDMT, CYLD, CYLD1, CYLDI, EAC, ENSG00000083799, FLJ20180, FLJ31664, HSPC057, KIAA0849, USPL2 |
| DAXX | death-domain associated protein | 1616 | Pancreatic neuroendocrine tumors. Paediatric GBM | 1616, A2AB94, BING2, CCDS4776.1, DAP6, DAQB-126H3_2, DAXX, ENSG00000206206, MGC126245, MGC126246, Q4VX54, Q53F85, Q59FG7, Q5STK9, Q5STR5, Q9UER7 | ||
| DDB2 | damage-specific DNA binding protein 2 | 1643 | skin basal cell, skin squamous cell, melanoma | Xeroderma pigmentosum (E) | 1643, CCDS7927.1, DDB2, ENSG00000134574, FLJ34321, Q92466 | |
| DICER1 | dicer 1, ribonuclease type III | 23405 | sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma | pleuropulmonary blastoma | Familial Pleuropulmonary Blastoma | 23405, CCDS9931.1, DICER1, Dicer, ENSG00000100697, HERNA, K12H4_8-LIKE, KIAA0928, Q5D0K4, Q5D0K5, Q9UFF3, Q9UPY3 |
| 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 | ||
| EGFR | epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian) | 1956 | glioma, NSCLC | NSCLC | Familial lung cancer | 1956, CCDS5514.1, EGFR, ENSG00000146648, ERBB, ERBB1, P00533, mENA |
| EP300 | 300 kd E1A-Binding protein gene | 2033 | colorectal, breast, pancreatic, AML, ALL, DLBCL | 2033, CCDS14010.1, ENSG00000100393, EP300, RP1-85F18_1, p300 | ||
| ERBB2 | v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) | 2064 | breast, ovarian, other tumour types, NSCLC, gastric | 2064, ENSG00000141736, ERBB2, HER-2, HER-2/neu, HER2, NEU, NGL, P04626, TKR1, c-erb B2, c-erbB2 | ||
| 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 | |
| ERCC4 | excision repair cross-complementing rodent repair deficiency, complementation group 4 | 2072 | skin basal cell, skin squamous cell, melanoma | Xeroderma pigmentosum (F) | 2072, A0PJA9, CCDS32390.1, ENSG00000175595, ERCC4, Q92889, RAD1, XPF | |
| ERCC5 | excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome)) | 2073 | skin basal cell, skin squamous cell, melanoma | Xeroderma pigmentosum (G) | 2073, COFS3, ENSG00000134899, ERCC5, ERCM2, RP11-484I6_5, UVDR, XPG, XPGC | |
| 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 | |
| EZH2 | enhancer of zeste homolog 2 | 2146 | DLBCL | 2146, B2RAQ1, B3KS30, CCDS5891.1, CCDS5892, ENSG00000106462, ENX-1, ENX1, EZH1, EZH2, EZH2_ENST00000350995, KMT6, MGC9169, Q15910, Q6R125, Q75MG3, Q75MP9, Q75MQ0, Q96FI6 | ||
| FAM46C | family with sequence similarity 46, member C | 54855 | MM | 54855, A3KMG2, CCDS896.1, ENSG00000183508, FAM46C, FLJ20202, Q5VWP2 | ||
| 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 | |
| FANCD2 | Fanconi anemia, complementation group D2 | 2177 | AML, leukemia | Fanconi anaemia D2 | 2177, CCDS2595.1, DKFZp762A223, ENSG00000144554, FA-D2, FA4, FACD, FAD, FAD2, FANCD, FANCD2, FLJ23826 | |
| FANCG | Fanconi anemia, complementation group G | 2189 | AML, leukemia | Fanconi anaemia G | 2189, CCDS6574.1, ENSG00000221829, FAG, FANCG, O15287, Q53XM5, XRCC9 | |
| FBXO11 | F-box protein 11 | 80204 | DLBCL | 80204, A1L491, CCDS1837.1, ENSG00000138081, FBX11, FBXO11, FLJ12673, MGC44383, PRMT9, Q53RT5, Q86XK2, UG063H01, VIT1 | ||
| FBXW7 | F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila) | 55294 | colorectal, endometrial, T-ALL | 55294, AGO, CCDS3777.1, CCDS3778.1, CDC4, DKFZp686F23254, ENSG00000109670, FBW7, FBX30, FBXW6, FBXW7, FBXW7_NM_018315_2, FLJ11071, SEL-10, SEL10 | ||
| FGFR2 | fibroblast growth factor receptor 2 | 2263 | gastric. NSCLC, endometrial | 2263, BEK, BFR-1, CD332, CEK3, CFD1, ECT1, ENSG00000066468, FGFR2, JWS, K-SAM, KGFR, TK14, TK25 | ||
| FGFR3 | fibroblast growth factor receptor 3 | 2261 | bladder, MM, T-cell lymphoma | 2261, ACH, CCDS3353.1, CD333, CEK2, ENSG00000068078, FGFR3, HSFGFR3EX, JTK4, P22607 | ||
| FH | fumarate hydratase | 2271 | lieomyomatosis, renal | hereditary leiomyomatosis and renal cell cancer | 2271, CCDS1617.1, ENSG00000091483, FH, HLRCC, LRCC, MCL, MCUL1, P07954, Q5SY06 | |
| FLT3 | fms-related tyrosine kinase 3 | 2322 | AML, ALL | 2322, CD135, ENSG00000122025, FLK2, FLT3, P36888, RP11-153M24_3, STK1 | ||
| FOXL2 | forkhead box L2 | 668 | granulosa-cell tumour of the ovary | 668, BPES, BPES1, CCDS3105.1, ENSG00000183770, FOXL2, P58012, PFRK, PINTO, POF3, Q05CX9, Q4JHB5, Q4JHB7, Q53ZD3 | ||
| GATA1 | GATA binding protein 1 (globin transcription factor 1) | 2623 | megakaryoblastic leukemia of Downs Syndrome | 2623, CCDS14305.1, ENSG00000102145, ERYF1, GATA1, GF1, NFE1, P15976 | ||
| GATA2 | GATA binding protein 2 | 2624 | AML(CML blast transformation) | 2624, CCDS3049.1, ENSG00000179348, GATA2, MGC2306, NFE1B, P23769, Q53YE0, Q96BH0, Q96BH8 | ||
| GNA11 | guanine nucleotide binding protein (G protein), alpha 11 (Gq class) | 2767 | uveal melanoma | 2767, CCDS12103.1, ENSG00000088256, GNA-11, GNA11 | ||
| GNAQ | guanine nucleotide binding protein (G protein), q polypeptide | 2776 | uveal melanoma | 2776, CCDS6658.1, ENSG00000156052, G-ALPHA-q, GAQ, GNAQ, P50148, Q5T8F3, Q6NT27, RP11-494N1_1 | ||
| GNAS | guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1 | 2778 | pituitary adenoma | 2778, AHO, C20orf45, CCDS13471.1, ENSG00000087460, GNAS, GNAS1, GNASXL, GNAS_NM_016592_1, GPSA, GSA, GSP, Gnas, MGC33735, NESP, NESP55, PHP1A, PHP1B, POH, RP4-543J19_4, SCG6, XL, XL2, XLalphas, dJ309F20_1_1, dJ806M20_3_3 | ||
| 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 | |
| H3F3A | H3 histone, family 3A | 3020 | glioma | 3020, CCDS1550.1, ENSG00000163041, H3F3, H3F3A, H3_3A, H3_3B, LOC347376, MGC87782, MGC87783, P84243, Q6TXQ4 | ||
| HRAS | v-Ha-ras Harvey rat sarcoma viral oncogene homolog | 3265 | infrequent sarcomas, rare other types | rhadomyosarcoma, ganglioneuroblastoma, bladder | Costello syndrome | 3265, CCDS7698.1, ENSG00000174775, HRAS, HRAS1, K-ras, N-ras, P01112, RASH1, c-bas/has |
| HRPT2 | hyperparathyroidism 2 | 3279 | parathyroid adenoma | parathyroid adenoma, mulitiple ossifying jaw fibroma | Hyperparathyroidism-jaw tumor syndrome | 79577, C1orf28, CCDS1382.1, CDC73, ENSG00000134371, FLJ23316, HPT-JT, HRPT2, Q6P1J9, Q6PHR8 |
| IDH1 | isocitrate dehydrogenase 1 (NADP+), soluble | 3417 | gliobastoma | 3417, CCDS2381.1, ENSG00000138413, IDH, IDH1, IDP, O75874, PICD, Q0QER2, Q567U4, Q6FHQ6, Q6FI37, Q6FIA4, Q7Z3V0 | ||
| IL7R | interleukin 7 receptor | 146661 | ALL, ETP ALL | 3575, CCDS3911.1, CD127, CDW127, ENSG00000168685, IL-7R-alpha, IL7R, P16871, Q05CU8, Q6NSP4, Q6NWM0, Q6NWM1, Q6NWM2, Q6NWM3 | ||
| JAK1 | Janus kinase 1 | 3716 | ALL | 3716, CCDS41346, ENSG00000162434, JAK1, JAK1A, JAK1B, JAK1_ENST00000342505, JTK3, P23458, Q0VGA4, Q4LDX3, Q6P669, Q8IV82 | ||
| JAK2 | Janus kinase 2 | 3717 | ALL, AML, MPD, CML | 3717, A8K910, A9QVL8, B4DYV1, CCDS6457, ENSG00000096968, JAK2, JAK2_ENST00000381652, JTK10, O60674, Q506Q0, Q52R86, Q8IXP2 | ||
| JAK3 | Janus kinase 3 | 3718 | acute megakaryocytic leukemia, ETP ALL | 3718, CCDS12366.1, ENSG00000105639, JAK-3, JAK3, JAK3_HUMAN, JAKL, L-JAK, LJAK, P52333 | ||
| KDR | vascular endothelial growth factor receptor 2 | 3791 | NSCLC, angiosarcoma | 3791, CCDS3497.1, CD309, ENSG00000128052, FLK1, KDR, P35968, VEGFR, VEGFR2 | ||
| KIT | v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog | 3815 | GIST, AML, TGCT, mastocytosis, mucosal melanoma | GIST, epithelioma | Familial gastrointestinal stromal tumour | 3815, C-Kit, CD117, ENSG00000157404, KIT, P10721, SCFR |
| KRAS | v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog | 3845 | pancreatic, colorectal, lung, thyroid, AML, others | 3845, C-K-RAS, CCDS8702.1, K-RAS2A, K-RAS2B, K-RAS4A, K-RAS4B, KI-RAS, KRAS, KRAS1, KRAS2, NS3, P01116, RASK2 | ||
| MADH4 | Homolog of Drosophila Mothers Against Decapentaplegic 4 gene | 4089 | colorectal, pancreatic, small intestine | gastrointestinal polyps | Juvenile polyposis | 4089, CCDS11950.1, DPC4, ENSG00000141646, JIP, MADH4, Q13485, Q9BYG6, SMAD4 |
| MAP2K4 | mitogen-activated protein kinase kinase 4 | 6416 | pancreatic, breast, colorectal | 6416, CCDS11162.1, ENSG00000065559, JNKK, JNKK1, MAP2K4, MAPKK4, MEK4, MKK4, P45985, PRKMK4, SEK1, SERK1 | ||
| 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 |
| MET | met proto-oncogene (hepatocyte growth factor receptor) | 4233 | papillary renal, head-neck squamous cell | papillary renal | Familial Papillary Renal Cancer | 4233, AUTS9, ENSG00000105976, HGFR, MET, P08581, RCCP2 |
| 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 |
| MLL2 | myeloid/lymphoid or mixed-lineage leukemia 2 | 8085 | medulloblastoma, renal | 8085, ENSG00000167548, MLL2 | ||
| MPL | myeloproliferative leukemia virus oncogene, thrombopoietin receptor | 4352 | MPD | MPD | Familial essential thrombocythemia | 4352, C-MPL, CCDS483.1, CD110, ENSG00000117400, MPL, MPLV, P40238, Q308M1, Q5JUZ0, RP1-92O14_1, TPOR |
| 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 |
| MUTYH | mutY homolog (E. coli) | 4595 | colorectal | Adenomatous polyposis coli | 4595, CCDS520.1, ENSG00000132781, MGC4416, MUTYH, MYH, MYHbeta, hMYH | |
| MYD88 | myeloid differentiation primary response gene (88) | 4615 | ABC-DLBCL | 4615, B4DKU4, B4DU08, B4E3D6, CCDS2674, MYD88, MYD88D, MYD88_ENST00000396334, Q99836 | ||
| NBS1 | Nijmegen breakage syndrome 1 (nibrin) | 4683 | NHL, glioma, medulloblastoma, rhabdomyosarcoma | Nijmegen breakage syndrome | 4683, AT-V1, AT-V2, ATV, CCDS6249.1, ENSG00000104320, FLJ10155, MGC87362, NBN, NBS, NBS1 | |
| 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 |
| NFE2L2 | nuclear factor (erythroid-derived 2)-like 2 (NRF2) | 4780 | NSCLC, HNSCC | 4780, CCDS42782.1, ENSG00000116044, NFE2L2, NRF2, Q16236, Q9BZF8 | ||
| NOTCH1 | Notch homolog 1, translocation-associated (Drosophila) (TAN1) | 4851 | T-ALL | 4851, ENSG00000148400, NOTCH1, P46531, Q59ED8, Q5SXM3, TAN1, hN1 | ||
| NOTCH2 | Notch homolog 2 | 4853 | marginal zone lymphoma, DLBCL | 4853, AGS2, CCDS908.1, ENSG00000134250, NOTCH2, Q04721, Q13560, Q5VTD0, Q6IQ50, Q96JU8, Q9UFD5, hN2 | ||
| NRAS | neuroblastoma RAS viral (v-ras) oncogene homolog | 4893 | melanoma, MM, AML, thyroid | 4893, ENSG00000213281, N-ras, NRAS, NRAS1, P01111 | ||
| PALB2 | partner and localizer of BRCA2 | 79728 | Wilms tumor, medulloblastoma, AML ,breast | Fanconi anaemia N, breast cancer susceptibility | 79728, ENSG00000083093, PALB2 | |
| 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 | ||
| PDGFRA | platelet-derived growth factor, alpha-receptor | 5156 | GIST, idiopathic hypereosinophilic syndrome, paediatric GBM | 5156, CCDS3495.1, CD140A, CD140a, ENSG00000134853, MGC74795, P16234, PDGFR2, PDGFRA, Rhe-PDGFRA | ||
| PHF6 | PHD finger protein 6 | 84295 | ETP ALL | 84295, BORJ, ENSG00000156531, MGC14797, PHF6 | ||
| PHOX2B | paired-like homeobox 2b | 8929 | neuroblastoma | neuroblastoma | familial neuroblastoma | 8929, PHOX2B |
| PIK3CA | phosphoinositide-3-kinase, catalytic, alpha polypeptide | 5290 | colorectal, gastric, gliobastoma, breast | 5290, ENSG00000121879, MGC142161, MGC142163, P42336, PI3K, PIK3CA, p110-alpha | ||
| PIK3R1 | phosphoinositide-3-kinase, regulatory subunit 1 (alpha) | 5295 | gliobastoma, ovarian, colorectal | 5295, CCDS3993.1, CCDS3995.1, ENSG00000145675, GRB1, P27986, PIK3R1, p85-ALPHA | ||
| PMS1 | PMS1 postmeiotic segregation increased 1 (S. cerevisiae) | 5378 | colorectal, endometrial, ovarian | Hereditary non-polyposis colorectal cancer | 5378, CCDS2302.1, DKFZp781M0253, ENSG00000064933, HNPCC3, PMS1, PMSL1, hPMS1 | |
| PMS2 | PMS2 postmeiotic segregation increased 2 (S. cerevisiae) | 5395 | colorectal, endometrial, ovarian, medulloblastoma, glioma | Hereditary non-polyposis colorectal cancer, Turcot syndrome | 5395, CCDS5343.1, ENSG00000122512, HNPCC4, H_DJ0042M02_9, PMS2, PMS2CL, PMSL2 | |
| PPP2R1A | protein phosphatase 2, regulatory subunit A, alpha | 5518 | clear cell ovarian carcinoma | 5518, CCDS12849.1, ENSG00000105568, MGC786, P30153, PPP2R1A, PR65A, Q6ICQ3, Q96DH3 | ||
| 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 |
| PTPN11 | protein tyrosine phosphatase, non-receptor type 11 | 5781 | JMML, AML, MDS | 5781, BPTP3, CCDS9163.1, CFC, ENSG00000179295, MGC14433, NS1, PTP-1D, PTP2C, PTPN11, Q06124, Q16344, SH-PTP2, SH-PTP3, SHP-2, SHP2 | ||
| RB1 | retinoblastoma gene | 5925 | retinoblastoma, sarcoma, breast, small cell lung | retinoblastoma, sarcoma, breast, small cell lung | Familial retinoblastoma | 5925, ENSG00000139687, OSRC, P06400, RB, RB1 |
| RET | ret proto-oncogene | 5979 | medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC | medullary thyroid, papillary thyroid, pheochromocytoma | Multiple endocrine neoplasia 2A/2B | 5979, CCDS7200.1, CDHF12, ENSG00000165731, HSCR1, MEN2A, MEN2B, MTC1, P07949, PTC, RET, RET-ELE1, RET51 |
| SDHB | succinate dehydrogenase complex, subunit B, iron sulfur (Ip) | 6390 | paraganglioma, pheochromocytoma | Familial paraganglioma | 6390, CCDS176.1, ENSG00000117118, IP, PGL4, SDH, SDH1, SDHB, SDHIP | |
| SDHC | succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa | 6391 | paraganglioma, pheochromocytoma | Familial paraganglioma | 6391, CYB560, CYBL, ENSG00000143252, PGL3, QPS1, SDH3, SDHC | |
| 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 | ||
| SF3B1 | splicing factor 3b, subunit 1, 155kDa | 23451 | myelodysplastic syndrome | 23451, A0JLT9, A0PJH5, CCDS33356.1, ENSG00000115524, O75533, PRP10, PRPF10, Q32Q20, Q7Z497, Q9NTB4, SAP155, SF3B1, SF3b155 | ||
| SMARCA4 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 | 6597 | NSCLC | 6597, BAF190, BRG1, CCDS12253.1, ENSG00000127616, FLJ39786, P51532, Q59FZ6, SMARCA4, SNF2, SNF2-BETA, SNF2L4, SNF2LB, SWI2, hSNF2b | ||
| SMO | smoothened homolog (Drosophila) | 6608 | skin basal cell | 6608, CCDS5811.1, ENSG00000128602, Gx, NP_005622, Q99835, Q9Y2Y5, SMO, SMOH | ||
| SRSF2 | serine/arginine-rich splicing factor 2 | 6427 | MDS, CLL | 6427, CCDS11749.1, Q01130, Q53FN0, SFRS2, SRSF2 | ||
| STK11 | serine/threonine kinase 11 gene (LKB1) | 6794 | NSCLC, pancreatic | jejunal harmartoma, ovarian, testicular, pancreatic | Peutz-Jeghers syndrome | 6794, ENSG00000118046, LKB1, PJS, Q15831, STK11 |
| TCF1 | transcription factor 1, hepatic (HNF1) | 6927 | hepatic adenoma, hepatocellular ca | hepatic adenoma, hepatocellular ca | Familial Hepatic Adenoma | 6927, CCDS9209.1, ENSG00000135100, HNF1, HNF1A, LFB1, MODY3, P20823, TCF1 |
| TET2 | tet oncogene family member 2 | 54790 | MDS | 54790, A7E237, B5MDU0, C3W8F4, ENSG00000168769, FLJ20032, KIAA1546, MGC125715, Q6N021, TET2, TET2-202 | ||
| TNFRSF14 | tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator) | 8764 | follicular lymphoma | 8764, ATAR, CCDS43.1, ENSG00000157873, HVEA, HVEM, LIGHTR, Q6IB95, Q8N634, Q92956, TNFRSF14, TR2 | ||
| TNFRSF6 | tumor necrosis factor receptor superfamily, member 6 (FAS) | 355 | TGCT, nasal NK/T lymphoma, skin squamous cell ca -burn scar-related | 355, ALPS1A, APO-1, APT1, CCDS7393.1, CD95, ENSG00000026103, FAS, FAS1, FASTM, P25445, Q5T9P1, Q6ICT6, Q8IUB6, Q8IUB7, TNFRSF6 | ||
| TP53 | tumor protein p53 | 7157 | breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types | breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types | Li-Fraumeni syndrome | 7157, CCDS11118.1, ENSG00000141510, LFS1, P04637, P53, TP53, TRP53, p53 |
| 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 | |
| TSHR | thyroid stimulating hormone receptor | 7253 | toxic thyroid adenoma | thyroid adenoma | 7253, CCDS9872.1, ENSG00000165409, LGR3, MGC75129, TSHR, hTSHR-I | |
| U2AF1 | U2 small nuclear RNA auxiliary factor 1 | 7307 | CLL, MDS | 7307, CCDS13694.1, DKFZp313J1712, ENSG00000160201, FP793, Q01081, Q71RF1, Q7Z780, RN, RNU2AF1, U2AF1, U2AF35, U2AFBP | ||
| 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 |
| WTX | family with sequence similarity 123B (FAM123B) | 139285 | Wilms tumour | 139285, CCDS14377.1, ENSG00000184675, FAM123B, FLJ39827, RP11-403E24_2, WTX | ||
| 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 | |
| XPO1 | exportin 1 (CRM1 homolog, yeast) | 7514 | CLL | 7514, CCDS33205.1, CRM1, DKFZp686B1823, ENSG00000082898, O14980, XPO1 | ||
| 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;
