rbbt-phgx 0.1.0 → 0.2.0

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  1. data/lib/phgx.rb +2 -11
  2. data/lib/rbbt/mutation/fireDB.rb +11 -0
  3. data/lib/rbbt/mutation/polyphen.rb +172 -0
  4. data/lib/rbbt/mutation/sift.rb +112 -0
  5. data/lib/rbbt/mutation/snps_and_go.rb +61 -0
  6. data/lib/rbbt/sources/biogrid.rb +11 -0
  7. data/lib/rbbt/sources/cancer.rb +3 -8
  8. data/lib/rbbt/sources/dbsnp.rb +6 -0
  9. data/lib/rbbt/sources/hprd.rb +6 -0
  10. data/lib/rbbt/sources/kegg.rb +2 -5
  11. data/lib/rbbt/sources/matador.rb +2 -5
  12. data/lib/rbbt/sources/nci.rb +2 -5
  13. data/lib/rbbt/sources/pharmagkb.rb +2 -5
  14. data/lib/rbbt/sources/pina.rb +6 -0
  15. data/lib/rbbt/sources/reactome.rb +6 -0
  16. data/lib/rbbt/sources/sift.rb +5 -0
  17. data/lib/rbbt/sources/stitch.rb +2 -5
  18. data/lib/rbbt/sources/string.rb +2 -5
  19. data/share/Cancer/anais_annotations +7949 -0
  20. data/share/Cancer/anais_interactions +3402 -0
  21. data/share/Cancer/cancer_genes.tsv +428 -0
  22. data/share/install/Biogrid/Rakefile +20 -0
  23. data/share/install/DBSNP/Rakefile +50 -0
  24. data/share/install/HPRD/Rakefile +15 -0
  25. data/share/install/KEGG/Rakefile +3 -3
  26. data/share/install/Matador/Rakefile +2 -2
  27. data/share/install/NCI/Rakefile +2 -2
  28. data/share/install/PharmaGKB/Rakefile +17 -14
  29. data/share/install/Pina/Rakefile +16 -0
  30. data/share/install/Reactome/Rakefile +36 -0
  31. data/share/install/STITCH/Rakefile +5 -5
  32. data/share/install/STRING/Rakefile +2 -2
  33. data/test/rbbt/mutation/test_fireDB.rb +14 -0
  34. data/test/rbbt/mutation/test_polyphen.rb +20 -0
  35. data/test/rbbt/mutation/test_sift.rb +23 -0
  36. data/test/rbbt/mutation/test_snps_and_go.rb +32 -0
  37. data/test/rbbt/sources/test_cancer.rb +1 -1
  38. data/test/rbbt/sources/test_matador.rb +2 -3
  39. data/test/rbbt/sources/test_pharmagkb.rb +1 -1
  40. data/test/rbbt/sources/test_stitch.rb +3 -1
  41. metadata +47 -8
@@ -0,0 +1,428 @@
1
+ Symbol Name GeneID Chr Chr Band Cancer Somatic Mut Cancer Germline Mut Tumour Types (Somatic Mutations) Tumour Types (Germline Mutations) Cancer Syndrome Tissue Type Cancer Molecular Genetics Mutation Type Translocation Partner Other Germline Mut Other Syndrome/Disease
2
+ ABL1 v-abl Abelson murine leukemia viral oncogene homolog 1 25 9 9q34.1 yes CML, ALL, T-ALL L Dom T, Mis BCR, ETV6, NUP214
3
+ ABL2 v-abl Abelson murine leukemia viral oncogene homolog 2 27 1 1q24-q25 yes AML L Dom T ETV6
4
+ ACSL3 acyl-CoA synthetase long-chain family member 3 2181 2 2q36 yes prostate E Dom T ETV1
5
+ AF15Q14 AF15q14 protein 57082 15 15q14 yes AML L Dom T MLL
6
+ AF1Q ALL1-fused gene from chromosome 1q 10962 1 1q21 yes ALL L Dom T MLL
7
+ AF3p21 SH3 protein interacting with Nck, 90 kDa (ALL1 fused gene from 3p21) 51517 3 3p21 yes ALL L Dom T MLL
8
+ AF5q31 ALL1 fused gene from 5q31 27125 5 5q31 yes ALL L Dom T MLL
9
+ AKAP9 A kinase (PRKA) anchor protein (yotiao) 9 10142   7 7q21-q22 yes papillary thyroid E Dom T BRAF
10
+ AKT1 v-akt murine thymoma viral oncogene homolog 1 207 14 14q32.32 yes breast, colorectal, ovarian, NSCLC E Dom Mis
11
+ AKT2 v-akt murine thymoma viral oncogene homolog 2 208 19 19q13.1-q13.2 yes ovarian, pancreatic E Dom A
12
+ ALK anaplastic lymphoma kinase (Ki-1) 238 2 2p23 yes yes ALCL, NSCLC, Neuroblastoma neuroblastoma Familial neuroblastoma L, E, M Dom T, Mis, A NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4
13
+ ALO17 KIAA1618 protein 57714 17 17q25.3 yes ALCL L Dom T ALK
14
+ APC adenomatous polyposis of the colon gene 324 5 5q21 yes yes colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS Adenomatous polyposis coli; Turcot syndrome E, M, O Rec D, Mis, N, F, S
15
+ ARHGEF12 RHO guanine nucleotide exchange factor (GEF) 12 (LARG) 23365 11 11q23.3 yes AML L Dom T MLL
16
+ ARHH RAS homolog gene family, member H (TTF) 399 4 4p13 yes NHL L Dom T BCL6
17
+ ARNT aryl hydrocarbon receptor nuclear translocator 405 1 1q21 yes AML L Dom T ETV6
18
+ ASPSCR1 alveolar soft part sarcoma chromosome region, candidate 1 79058 17 17q25 yes alveolar soft part sarcoma M Dom T TFE3
19
+ ASXL1 additional sex combs like 1 171023 20 20q11.1 yes MDS, CMML L Rec F, N, Mis
20
+ ATF1 activating transcription factor 1 466 12 12q13 yes malignant melanoma of soft parts , angiomatoid fibrous histiocytoma E, M Dom T EWSR1, FUS
21
+ ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase 471 2 2q35 yes ALCL L Dom T ALK
22
+ ATM ataxia telangiectasia mutated 472 11 11q22.3 yes yes T-PLL leukemia, lymphoma, medulloblastoma, glioma Ataxia-telangiectasia L, O Rec D, Mis, N, F, S
23
+ BCL10 B-cell CLL/lymphoma 10 8915 1 1p22 yes MALT L Dom T IGH@
24
+ BCL11A B-cell CLL/lymphoma 11A 53335 2 2p13 yes B-CLL L Dom T IGH@
25
+ BCL11B B-cell CLL/lymphoma 11B (CTIP2) 64919 14 14q32.1 yes T-ALL L Dom T TLX3
26
+ BCL2 B-cell CLL/lymphoma 2 596 18 18q21.3 yes NHL, CLL L Dom T IGH@
27
+ BCL3 B-cell CLL/lymphoma 3 602 19 19q13 yes CLL L Dom T IGH@
28
+ BCL5 B-cell CLL/lymphoma 5 603 17 17q22 yes CLL L Dom T MYC
29
+ BCL6 B-cell CLL/lymphoma 6 604 3 3q27 yes NHL, CLL L Dom T, Mis IG loci, ZNFN1A1, LCP1, PIM1, TFRC, MHC2TA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R, POU2AF1, ARHH, EIF4A2, SFRS3
30
+ BCL7A B-cell CLL/lymphoma 7A 605 12 12q24.1 yes BNHL L Dom T MYC
31
+ BCL9 B-cell CLL/lymphoma 9 607 1 1q21 yes B-ALL L Dom T IGH@, IGL@
32
+ BCR breakpoint cluster region 613 22 22q11.21 yes CML, ALL, AML L Dom T ABL1, FGFR1, JAK2
33
+ BHD folliculin, Birt-Hogg-Dube syndrome 201163 17 17p11.2 yes renal, fibrofolliculomas, trichodiscomas Birt-Hogg-Dube syndrome E, M Rec? Mis. N, F
34
+ BIRC3 baculoviral IAP repeat-containing 3 330 11 11q22-q23 yes MALT L Dom T MALT1
35
+ BLM Bloom Syndrome 641 15 15q26.1 yes leukemia, lymphoma, skin squamous cell , other cancers Bloom Syndrome L, E Rec Mis, N, F
36
+ BMPR1A bone morphogenetic protein receptor, type IA 657 10 10q22.3 yes gastrointestinal polyps Juvenile polyposis E Rec Mis, N, F
37
+ BRAF v-raf murine sarcoma viral oncogene homolog B1 673 7 7q34 yes melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma E Dom Mis, T, O AKAP9, KIAA1549 yes Cardio-facio-cutaneous syndrome
38
+ BRCA1 familial breast/ovarian cancer gene 1 672 17 17q21 yes yes ovarian breast, ovarian Hereditary breast/ovarian cancer E Rec D, Mis, N, F, S
39
+ BRCA2 familial breast/ovarian cancer gene 2 675 13 13q12 yes yes breast, ovarian, pancreatic breast, ovarian, pancreatic, leukemia (FANCB, FANCD1) Hereditary breast/ovarian cancer L, E Rec D, Mis, N, F, S
40
+ BRD3 bromodomain containing 3 8019 9 9q34 yes lethal midline carcinoma of young people E Dom T NUT
41
+ BRD4 bromodomain containing 4 23476 19 19p13.1 yes lethal midline carcinoma of young people E Dom T NUT
42
+ BRIP1 BRCA1 interacting protein C-terminal helicase 1 83990 17 17q22 yes AML, leukemia, breast Fanconi anaemia J, breast cancer susceptiblity L, E Rec F, N, Mis
43
+ BTG1 B-cell translocation gene 1, anti-proliferative 694 12 12q22 yes BCLL L Dom T MYC
44
+ BUB1B BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast) 701 15 15q15 yes rhabdomyosarcoma Mosaic variegated aneuploidy M Rec Mis, N, F, S
45
+ C12orf9 chromosome 12 open reading frame 9 93669 12 12q14.3 yes lipoma M Dom T LPP
46
+ C15orf21 chromosome 15 open reading frame 21 283651 15 15q21.1 yes prostate E Dom T ETV1
47
+ CANT1 calcium activated nucleotidase 1 124583 17 17q25 yes prostate E Dom T ETV4
48
+ CARD11 caspase recruitment domain family, member 11 84433 7 7p22 yes DLBL L Dom Mis
49
+ CARS cysteinyl-tRNA synthetase 833 11 11p15.5 yes ALCL L Dom T ALK
50
+ CBFA2T1 core-binding factor, runt domain, alpha subunit 2;translocated to, 1 (ETO) 862 8 8q22 yes AML L Dom T MLL, RUNX1
51
+ CBFA2T3 core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16) 863 16 16q24 yes AML L Dom T RUNX1
52
+ CBFB core-binding factor, beta subunit 865 16 16q22 yes AML L Dom T MYH11
53
+ CBL Cas-Br-M (murine) ecotropic retroviral transforming 867 11 11q23.3 yes AML, JMML, MDS L Dom, Rec T, Mis S, O MLL
54
+ CBLB Cas-Br-M (murine) ecotropic retroviral transforming sequence b 868 3 3q13.11 yes AML L Rec Mis S
55
+ CBLC Cas-Br-M (murine) ecotropic retroviral transforming sequence c 23624 19 19q13.2 yes AML L Rec M
56
+ CCND1 cyclin D1 595 11 11q13 yes CLL, B-ALL, breast L, E Dom T IGH@, FSTL3
57
+ CCND2 cyclin D2 894 12 12p13 yes NHL,CLL L Dom T IGL@
58
+ CCND3 cyclin D3 896 6 6p21 yes MM L Dom T IGH@
59
+ CD74 CD74 molecule, major histocompatibility complex, class II invariant chain 972 5 5q32 yes NSCLC E Dom T ROS1
60
+ CD79A CD79a molecule, immunoglobulin-associated alpha 973 19 19q13.2 yes DLBCL L Dom O, S
61
+ CD79B CD79b molecule, immunoglobulin-associated beta 974 17 17q23 yes DLBCL L Dom Mis, O
62
+ CDH1 cadherin 1, type 1, E-cadherin (epithelial) (ECAD) 999 16 16q22.1 yes yes lobular breast, gastric gastric Familial gastric carcinoma E Rec Mis, N, F, S
63
+ CDH11 cadherin 11, type 2, OB-cadherin (osteoblast) 1009 16 16q22.1 yes aneurysmal bone cysts M Dom T USP6
64
+ CDK4 cyclin-dependent kinase 4 1019 12 12q14 yes melanoma Familial malignant melanoma E Dom Mis
65
+ CDK6 cyclin-dependent kinase 6 1021 7 7q21-q22 yes ALL L Dom T MLLT10
66
+ CDKN2A -p16(INK4a) cyclin-dependent kinase inhibitor 2A (p16(INK4a)) gene 1029 9 9p21 yes yes melanoma, multiple other tumour types melanoma, pancreatic Familial malignant melanoma L, E, M, O Rec D, Mis, N, F, S
67
+ CDKN2A- p14ARF cyclin-dependent kinase inhibitor 2A-- p14ARF protein 1029 9 9p21 yes yes melanoma, multiple other tumour types melanoma, pancreatic Familial malignant melanoma L, E, M, O Rec D, S
68
+ CDKN2C cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) 1031 1 1p32 yes glioma, MM O, L Rec D
69
+ CDX2 caudal type homeo box transcription factor 2 1045 13 13q12.3 yes AML L Dom T ETV6
70
+ CEBPA CCAAT/enhancer binding protein (C/EBP), alpha 1050 19 19q13.1 yes AML, MDS L Dom Mis, N, F
71
+ CEP1 centrosomal protein 1 11064 9 9q33 yes MPD, NHL L Dom T FGFR1
72
+ CHCHD7 coiled-coil-helix-coiled-coil-helix domain containing 7 79145 8 8q11.2 yes salivary adenoma E Dom T PLAG1
73
+ CHEK2 CHK2 checkpoint homolog (S. pombe) 11200 22 22q12.1 yes breast familial breast cancer E Rec F
74
+ CHIC2 cysteine-rich hydrophobic domain 2 26511 4 4q11-q12 yes AML L Dom T ETV6
75
+ CHN1 chimerin (chimaerin) 1 1123 2 2q31-q32.1 yes extraskeletal myxoid chondrosarcoma M Dom T TAF15
76
+ CIC capicua homolog (Drosophila) 23152 19 19q13.2 yes soft tissue sarcoma M Dom T DUX4
77
+ CLTC clathrin, heavy polypeptide (Hc) 1213 17 17q11-qter yes ALCL, renal L Dom T ALK, TFE3
78
+ CLTCL1 clathrin, heavy polypeptide-like 1 8218 22 22q11.21 yes ALCL L Dom T ?
79
+ CMKOR1 chemokine orphan receptor 1 57007 2 2q37.3 yes lipoma M Dom T HMGA2
80
+ COL1A1 collagen, type I, alpha 1 1277 17 17q21.31-q22 yes dermatofibrosarcoma protuberans, aneurysmal bone cyst M Dom T PDGFB, USP6 yes Osteogenesis imperfecta
81
+ COPEB core promoter element binding protein (KLF6) 1316 10 10p15 yes prostate, glioma E, O Rec Mis, N
82
+ COX6C cytochrome c oxidase subunit VIc 1345 8 8q22-q23 yes uterine leiomyoma M Dom T HMGA2
83
+ CREB1 cAMP responsive element binding protein 1 1385 2 2q34 yes clear cell sarcoma, angiomatoid fibrous histiocytoma M Dom T EWSR1
84
+ CREB3L2 cAMP responsive element binding protein 3-like 2 64764 7 7q34 yes fibromyxoid sarcoma M Dom T FUS
85
+ CREBBP CREB binding protein (CBP) 1387 16 16p13.3 yes AL, AML L Dom T MLL, MORF, RUNXBP2 yes Rubinstein-Taybi syndrome
86
+ CRLF2 cytokine receptor-like factor 2 64109 X,Y Xp22.3; Yp11.3 yes B-ALL, Downs associated ALL L Dom Mis, T P2RY8, IGH@
87
+ CRTC3 CREB regulated transcription coactivator 3 64784 15 15q26.1 yes salivary gland mucoepidermoid E Dom T MAML2
88
+ CTNNB1 catenin (cadherin-associated protein), beta 1 1499 3 3p22-p21.3 yes colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma E, M, O Dom H, Mis, T PLAG1
89
+ CYLD familial cylindromatosis gene 1540 16 16q12-q13 yes yes cylindroma cylindroma Familial cylindromatosis E Rec Mis, N, F, S
90
+ D10S170 DNA segment on chromosome 10 (unique) 170, H4 gene (PTC1) 8030 10 10q21 yes papillary thyroid, CML E Dom T RET, PDGFRB
91
+ DDB2 damage-specific DNA binding protein 2 1643 11 11p12 yes skin basal cell, skin squamous cell, melanoma Xeroderma pigmentosum (E) E Rec Mis, N
92
+ DDIT3 DNA-damage-inducible transcript 3 1649 12 12q13.1-q13.2 yes liposarcoma M Dom T FUS
93
+ DDX10 DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 1662 11 11q22-q23 yes AML* L Dom T NUP98
94
+ DDX5 DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 1655 17 17q21 yes prostate E Dom T ETV4
95
+ DDX6 DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 1656 11 11q23.3 yes B-NHL L Dom T IGH@
96
+ DEK DEK oncogene (DNA binding) 7913 6 6p23 yes AML L Dom T NUP214
97
+ DICER1 dicer 1, ribonuclease type III 23405 14 14q32.13 yes pleuropulmonary blastoma Familial Pleuropulmonary Blastoma E Rec Mis F, N
98
+ DUX4 double homeobox, 4 22947 4 4q35 yes soft tissue sarcoma M Dom T CIC
99
+ EGFR epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian) 1956 7 7p12.3-p12.1 yes yes glioma, NSCLC NSCLC Familial lung cancer E, O Dom A, O, Mis
100
+ EIF4A2 eukaryotic translation initiation factor 4A, isoform 2 1974 3 3q27.3 yes NHL L Dom T BCL6
101
+ ELF4 E74-like factor 4 (ets domain transcription factor) 2000 X Xq26 yes AML L Dom T ERG
102
+ ELK4 ELK4, ETS-domain protein (SRF accessory protein 1) 2005 1 1q32 yes prostate E Dom T SLC45A3
103
+ ELKS ELKS protein 23085 12 12p13.3 yes papillary thyroid E Dom T RET
104
+ ELL ELL gene (11-19 lysine-rich leukemia gene) 8178 19 19p13.1 yes AL L Dom T MLL
105
+ ELN elastin 2006 7 7q11.23 yes B-ALL L Dom T PAX5 yes Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome
106
+ EML4 echinoderm microtubule associated protein like 4 27436 2 2p21 yes NSCLC E Dom T ALK
107
+ EP300 300 kd E1A-Binding protein gene 2033 22 22q13 yes colorectal, breast, pancreatic, AML L, E Rec T MLL, RUNXBP2
108
+ EPS15 epidermal growth factor receptor pathway substrate 15 (AF1p) 2060 1 1p32 yes ALL L Dom T MLL
109
+ ERBB2 v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) 2064 17 17q21.1 yes breast, ovarian, other tumour types, NSCLC, gastric E Dom A, Mis, O
110
+ ERCC2 excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D) 2068 19 19q13.2-q13.3 yes skin basal cell, skin squamous cell, melanoma Xeroderma pigmentosum (D) E Rec Mis, N, F, S
111
+ ERCC3 excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) 2071 2 2q21 yes skin basal cell, skin squamous cell, melanoma Xeroderma pigmentosum (B) E Rec Mis, S
112
+ ERCC4 excision repair cross-complementing rodent repair deficiency, complementation group 4 2072 16 16p13.3-p13.13 yes skin basal cell, skin squamous cell, melanoma Xeroderma pigmentosum (F) E Rec Mis, N, F
113
+ ERCC5 excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome)) 2073 13 13q33 yes skin basal cell, skin squamous cell, melanoma Xeroderma pigmentosum (G) E Rec Mis, N, F
114
+ ERG v-ets erythroblastosis virus E26 oncogene like (avian) 2078 21 21q22.3 yes Ewing sarcoma, prostate, AML M, E, L Dom T EWSR1, TMPRSS2, ELF4, FUS, HERPUD1
115
+ ETV1 ets variant gene 1 2115 7 7p22 yes Ewing sarcoma, prostate M, E Dom T EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3
116
+ ETV4 ets variant gene 4 (E1A enhancer binding protein, E1AF) 2118 17 17q21 yes Ewing sarcoma, Prostate carcinoma M, E Dom T EWSR1, TMPRSS2, DDX5, KLK2, CANT1
117
+ ETV5 ets variant gene 5 2119 3 3q28 yes Prostate E Dom T TMPRSS2, SCL45A3
118
+ ETV6 ets variant gene 6 (TEL oncogene) 2120 12 12p13 yes congenital fibrosarcoma, multiple leukemia and lymphoma, secretory breast, MDS, ALL L, E, M Dom T NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5
119
+ EVI1 ecotropic viral integration site 1 2122 3 3q26 yes AML, CML L Dom T RUNX1, ETV6, PRDM16, RPN1
120
+ EWSR1 Ewing sarcoma breakpoint region 1 (EWS) 2130 22 22q12 yes Ewing sarcoma, desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma L, M Dom T FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1, PBX1
121
+ EXT1 multiple exostoses type 1 gene 2131 8 8q24.11-q24.13 yes exostoses, osteosarcoma Multiple Exostoses Type 1 M Rec Mis, N, F, S
122
+ EXT2 multiple exostoses type 2 gene 2132 11 11p12-p11 yes exostoses, osteosarcoma Multiple Exostoses Type 2 M Rec Mis, N, F, S
123
+ EZH2 enhancer of zeste homolog 2 2146 7 7q35-q36 yes DLBCL L Rec? Mis
124
+ FACL6 fatty-acid-coenzyme A ligase, long-chain 6 23305 5 5q31 yes AML, AEL L Dom T ETV6
125
+ FANCA Fanconi anemia, complementation group A 2175 16 16q24.3 yes AML, leukemia Fanconi anaemia A L Rec D, Mis, N, F, S
126
+ FANCC Fanconi anemia, complementation group C 2176 9 9q22.3 yes AML, leukemia Fanconi anaemia C L Rec D, Mis, N, F, S
127
+ FANCD2 Fanconi anemia, complementation group D2 2177 3 3p26 yes AML, leukemia Fanconi anaemia D2 L Rec D, Mis, N, F
128
+ FANCE Fanconi anemia, complementation group E 2178 6 6p21-p22 yes AML, leukemia Fanconi anaemia E L Rec N, F, S
129
+ FANCF Fanconi anemia, complementation group F 2188 11 11p15 yes AML, leukemia Fanconi anaemia F L Rec N, F
130
+ FANCG Fanconi anemia, complementation group G 2189 9 9p13 yes AML, leukemia Fanconi anaemia G L Rec Mis, N, F, S
131
+ FBXW7 F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila) 55294 4 4q31.3 yes colorectal, endometrial, T-ALL E, L Rec Mis, N, D, F
132
+ FCGR2B Fc fragment of IgG, low affinity IIb, receptor for (CD32) 2213 1 1q23 yes ALL L Dom T ?
133
+ FEV FEV protein - (HSRNAFEV) 54738 2 2q36 yes Ewing sarcoma M Dom T EWSR1, FUS
134
+ FGFR1 fibroblast growth factor receptor 1 2260 8 8p11.2-p11.1 yes MPD, NHL L Dom T BCR, FOP, ZNF198, CEP1 yes Pfeiffer syndrome, Kallman syndrome
135
+ FGFR1OP FGFR1 oncogene partner (FOP) 11116 6 6q27 yes MPD, NHL L Dom T FGFR1
136
+ FGFR2 fibroblast growth factor receptor 2 2263 10 10q26 yes gastric. NSCLC, endometrial E Dom Mis yes Crouzon, Pfeiffer, and Apert syndromes
137
+ FGFR3 fibroblast growth factor receptor 3 2261 4 4p16.3 yes bladder, MM, T-cell lymphoma L, E Dom Mis, T IGH@, ETV6 yes Hypochondroplasia, Thanatophoric dysplasia
138
+ FH fumarate hydratase 2271 1 1q42.1 yes lieomyomatosis, renal hereditary leiomyomatosis and renal cell cancer E, M Rec Mis, N, F
139
+ FIP1L1 FIP1 like 1 (S. cerevisiae) 81608 4 4q12 yes idiopathic hypereosinophilic syndrome L Dom T PDGFRA
140
+ FLI1 Friend leukemia virus integration 1 2313 11 11q24 yes Ewing sarcoma M Dom T EWSR1
141
+ FLT3 fms-related tyrosine kinase 3 2322 13 13q12 yes AML, ALL L Dom Mis, O
142
+ FNBP1 formin binding protein 1 (FBP17) 23048 9 9q23 yes AML L Dom T MLL
143
+ FOXL2 forkhead box L2 668 3 3q23 yes granulosa-cell tumour of the ovary O Dom Mis yes Blepharophimosis, ptosis and epicanthus inversus Types I, II; Premature ovarian failure type III
144
+ FOXO1A forkhead box O1A (FKHR) 2308 13 13q14.1 yes alveolar rhabdomyosarcomas M Dom T PAX3
145
+ FOXO3A forkhead box O3A 2309 6 6q21 yes AL L Dom T MLL
146
+ FOXP1 forkhead box P1 27086 3 3p14.1 yes ALL L Dom T PAX5
147
+ FSTL3 follistatin-like 3 (secreted glycoprotein) 10272 19 19p13 yes B-CLL L Dom T CCND1
148
+ FUS fusion, derived from t(12;16) malignant liposarcoma 2521 16 16p11.2 yes liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma M, L Dom T DDIT3, ERG, FEV, ATF1, CREB3L2
149
+ FVT1 follicular lymphoma variant translocation 1 2531 18 18q21.3 yes B-NHL L Dom T IGK@
150
+ GAS7 growth arrest-specific 7 8522 17 17p yes AML* L Dom T MLL
151
+ GATA1 GATA binding protein 1 (globin transcription factor 1) 2623 X Xp11.23 yes megakaryoblastic leukemia of Downs Syndrome L Dom Mis, F
152
+ GATA2 GATA binding protein 2 2624 3 3q21.3 yes AML(CML blast transformation) L Dom Mis
153
+ GATA3 GATA binding protein 3 2625 10 10p15 yes breast E Rec F, N, S yes HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)
154
+ GMPS guanine monphosphate synthetase 8833 3 3q24 yes AML L Dom T MLL
155
+ GNAQ guanine nucleotide binding protein (G protein), q polypeptide 2776 9 9q21 yes uveal melanoma E Dom Mis
156
+ GNAS guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1 2778 20 20q13.2 yes pituitary adenoma E Dom Mis yes McCune-Albright syndrome; pseudohypoparathyroidism, type IA
157
+ GOLGA5 golgi autoantigen, golgin subfamily a, 5 (PTC5) 9950 14 14q yes papillary thyroid E Dom T RET
158
+ GOPC golgi associated PDZ and coiled-coil motif containing 57120 6 6q21 yes glioblastoma O Dom O ROS1
159
+ GPC3 glypican 3 2719 X Xq26.1 yes Wilms tumour Simpson-Golabi-Behmel syndrome O Rec/X T, D, Mis, N, F, S
160
+ GPHN gephyrin (GPH) 10243 14 14q24 yes AL L Dom T MLL
161
+ GRAF GTPase regulator associated with focal adhesion kinase pp125(FAK) 23092 5 5q31 yes AML, MDS L Dom T, F, S MLL
162
+ HCMOGT-1 sperm antigen HCMOGT-1 92521 17 17p11.2 yes JMML L Dom T PDGFRB
163
+ HEAB ATP_GTP binding protein 10978 11 11q12 yes AML L Dom T MLL
164
+ HEI10 enhancer of invasion 10 - fused to HMGA2 57820 14 14q11.1 yes uterine leiomyoma M Dom T HMGA2
165
+ HERPUD1 homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 9709 16 16q12.2-q13 yes prostate E Dom T ERG
166
+ HIP1 huntingtin interacting protein 1 3092 7 7q11.23 yes CMML L Dom T PDGFRB
167
+ HIST1H4I histone 1, H4i (H4FM) 8294 6 6p21.3 yes NHL L Dom T BCL6
168
+ HLF hepatic leukemia factor 3131 17 17q22 yes ALL L Dom T TCF3
169
+ HLXB9 homeo box HB9 3110 7 7q36 yes AML L Dom T ETV6 yes CURRARINO SYNDROME
170
+ HMGA1 high mobility group AT-hook 1 3159 6 6p21 yes microfollicular thyroid adenoma, various benign mesenchymal tumors E, M Dom T ?
171
+ HMGA2 high mobility group AT-hook 2 (HMGIC) 8091 12 12q15 yes lipoma M Dom T LHFP, RAD51L1, LPP, HEI10, COX6C, CMKOR1, NFIB
172
+ HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 3181 7 7p15 yes prostate E Dom T ETV1
173
+ HOOK3 hook homolog 3 84376 8 8p11.21 yes papillary thyroid E Dom T RET
174
+ HOXA11 homeo box A11 3207 7 7p15-p14.2 yes CML L Dom T NUP98
175
+ HOXA13 homeo box A13 3209 7 7p15-p14.2 yes AML L Dom T NUP98
176
+ HOXA9 homeo box A9 3205 7 7p15-p14.2 yes AML* L Dom T NUP98, MSI2
177
+ HOXC11 homeo box C11 3227 12 12q13.3 yes AML L Dom T NUP98
178
+ HOXC13 homeo box C13 3229 12 12q13.3 yes AML L Dom T NUP98
179
+ HOXD11 homeo box D11 3237 2 2q31-q32 yes AML L Dom T NUP98
180
+ HOXD13 homeo box D13 3239 2 2q31-q32 yes AML* L Dom T NUP98
181
+ HRAS v-Ha-ras Harvey rat sarcoma viral oncogene homolog 3265 11 11p15.5 yes yes infrequent sarcomas, rare other types rhadomyosarcoma, ganglioneuroblastoma, bladder Costello syndrome E, L, M Dom Mis
182
+ HRPT2 hyperparathyroidism 2 3279 1 1q21-q31 yes yes parathyroid adenoma parathyroid adenoma, mulitiple ossifying jaw fibroma Hyperparathyroidism-jaw tumor syndrome E, M Rec Mis, N, F
183
+ HSPCA heat shock 90kDa protein 1, alpha 3320 14 14q32.31 yes NHL L Dom T BCL6
184
+ HSPCB heat shock 90kDa protein 1, beta 3326 6 6p12 yes NHL L Dom T BCL6
185
+ IDH1 isocitrate dehydrogenase 1 (NADP+), soluble 3417 2 2q33.3 yes gliobastoma O Dom Mis
186
+ IDH2 socitrate dehydrogenase 2 (NADP+), mitochondrial 3418 15 15q26.1 yes GBM M Dom M
187
+ IGH@ immunoglobulin heavy locus 3492 14 14q32.33 yes MM, Burkitt lymphoma, NHL, CLL, B-ALL, MALT, MLCLS L Dom T MYC, FGFR3,PAX5, IRTA1, IRF4, CCND1, BCL9, BCL8, BCL6, BCL2, BCL3, BCL10, BCL11A. LHX4, DDX6, NFKB2, PAFAH1B2, PCSK7, CRLF2
188
+ IGK@ immunoglobulin kappa locus 50802 2 2p12 yes Burkitt lymphoma, B-NHL L Dom T MYC, FVT1
189
+ IGL@ immunoglobulin lambda locus 3535 22 22q11.1-q11.2 yes Burkitt lymphoma L Dom T BCL9, MYC, CCND2
190
+ IKZF1 IKAROS family zinc finger 1 10320 7 7p12.2 yes ALL L Rec? D
191
+ IL2 interleukin 2 3558 4 4q26-q27 yes intestinal T-cell lymphoma L Dom T TNFRSF17
192
+ IL21R interleukin 21 receptor 50615 16 16p11 yes NHL L Dom T BCL6
193
+ IL6ST interleukin 6 signal transducer (gp130, oncostatin M receptor) 3572 5 5q11 yes hepatocellular ca E Dom O
194
+ IRF4 interferon regulatory factor 4 3662 6 6p25-p23 yes MM L Dom T IGH@
195
+ IRTA1 immunoglobulin superfamily receptor translocation associated 1 83417 1 1q21 yes B-NHL L Dom T IGH@
196
+ ITK IL2-inducible T-cell kinase 3702 5 5q31-q32 yes peripheral T-cell lymphoma L Dom T SYK
197
+ JAK1 Janus kinase 1 3716 1 1p32.3-p31.3 yes ALL L Dom Mis
198
+ JAK2 Janus kinase 2 3717 9 9p24 yes ALL, AML, MPD, CML L Dom T, Mis, O ETV6, PCM1, BCR
199
+ JAK3 Janus kinase 3 3718 19 19p13.1 yes acute megakaryocytic leukemia, L Dom Mis
200
+ JAZF1 juxtaposed with another zinc finger gene 1 221895 7 7p15.2-p15.1 yes endometrial stromal tumours M Dom T SUZ12
201
+ JUN jun oncogene 3725 1 1p32-p31 yes sarcoma M Dom A
202
+ KDM5A lysine (K)-specific demethylase 5A, JARID1A 5927 12 12p11 yes AML L Dom T NUP98
203
+ KDM5C lysine (K)-specific demethylase 5C (JARID1C) 8242 X Xp11.22-p11.21 yes clear cell renal carcinoma E Rec N, F, S
204
+ KDM6A lysine (K)-specific demethylase 6A, UTX 7403 X Xp11.2 yes renal, oesophageal SCC, MM E, L Rec D, N, F, S
205
+ KDR vascular endothelial growth factor receptor 2 3791 4 4q11-q12 yes NSCLC, angiosarcoma E Dom Mis
206
+ KIAA1549 KIAA1549 57670 7 7q34 yes pilocytic astrocytoma O Dom O BRAF
207
+ KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 3815 4 4q12 yes yes GIST, AML, TGCT, mastocytosis, mucosal melanoma GIST, epithelioma Familial gastrointestinal stromal tumour L, M, O, E Dom Mis, O yes Piebald trait
208
+ KLK2 kallikrein-related peptidase 2 3817 19 19q13.41 yes prostate E Dom T ETV4
209
+ KRAS v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog 3845 12 12p12.1 yes pancreatic, colorectal, lung, thyroid, AML, others L, E, M, O Dom Mis
210
+ KTN1 kinectin 1 (kinesin receptor) 3895 14 14q22.1 yes papillary thryoid E Dom T RET
211
+ LAF4 lymphoid nuclear protein related to AF4 3899 2 2q11.2-q12 yes ALL, T-ALL L Dom T MLL, RUNX1
212
+ LASP1 LIM and SH3 protein 1 3927 17 17q11-q21.3 yes AML L Dom T MLL
213
+ LCK lymphocyte-specific protein tyrosine kinase 3932 1 1p35-p34.3 yes T-ALL L Dom T TRB@
214
+ LCP1 lymphocyte cytosolic protein 1 (L-plastin) 3936 13 13q14.1-q14.3 yes NHL L Dom T BCL6
215
+ LCX leukemia-associated protein with a CXXC domain 80312 10 10q21 yes AML L Dom T MLL
216
+ LHFP lipoma HMGIC fusion partner 10186 13 13q12 yes lipoma M Dom T HMGA2
217
+ LIFR leukemia inhibitory factor receptor 3977 5 5p13-p12 yes salivary adenoma E Dom T PLAG1
218
+ LMO1 LIM domain only 1 (rhombotin 1) (RBTN1) 4004 11 11p15 yes T-ALL L Dom T TRD@
219
+ LMO2 LIM domain only 2 (rhombotin-like 1) (RBTN2) 4005 11 11p13 yes T-ALL L Dom T TRD@
220
+ LPP LIM domain containing preferred translocation partner in lipoma 4026 3 3q28 yes lipoma, leukemia L, M Dom T HMGA2, MLL, C12orf9
221
+ LYL1 lymphoblastic leukemia derived sequence 1 4066 19 19p13.2-p13.1 yes T-ALL L Dom T TRB@
222
+ MADH4 Homolog of Drosophila Mothers Against Decapentaplegic 4 gene 4089 18 18q21.1 yes yes colorectal, pancreatic, small intestine gastrointestinal polyps Juvenile polyposis E Rec D, Mis, N, F
223
+ MAF v-maf musculoaponeurotic fibrosarcoma oncogene homolog 4094 16 16q22-q23 yes MM L Dom T IGH@
224
+ MAFB v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian) 9935 20 20q11.2-q13.1 yes MM L Dom T IGH@
225
+ MALT1 mucosa associated lymphoid tissue lymphoma translocation gene 1 10892 18 18q21 yes MALT L Dom T BIRC3
226
+ MAML2 mastermind-like 2 (Drosophila) 84441 11 11q22-q23 yes salivary gland mucoepidermoid E Dom T MECT1, CRTC3
227
+ MAP2K4 mitogen-activated protein kinase kinase 4 6416 17 17p11.2 yes pancreatic, breast, colorectal E Rec D, Mis, N
228
+ MDM2 Mdm2 p53 binding protein homolog 4193 12 12q15 yes sarcoma, glioma, colorectal, other M, O, E, L Dom A
229
+ MDM4 Mdm4 p53 binding protein homolog 4194 1 1q32 yes GBM, bladder, retinoblastoma M Dom A
230
+ MDS1 myelodysplasia syndrome 1 4197 3 3q26 yes MDS, AML L Dom T RUNX1
231
+ MDS2 myelodysplastic syndrome 2 259283 1 1p36 yes MDS L Dom T ETV6
232
+ MECT1 mucoepidermoid translocated 1 94159 19 19p13 yes salivary gland mucoepidermoid E Dom T MAML2
233
+ MEN1 multiple endocrine neoplasia type 1 gene 4221 11 11q13 yes yes parathyroid tumors parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid Multiple Endocrine Neoplasia Type 1 E Rec D, Mis, N, F, S
234
+ MET met proto-oncogene (hepatocyte growth factor receptor) 4233 7 7q31 yes papillary renal, head-neck squamous cell papillary renal Familial Papillary Renal Cancer E Dom Mis
235
+ MHC2TA MHC class II transactivator 4261 16 16p13 yes NHL L Dom T BCL6
236
+ MITF microphthalmia-associated transcription factor 4286 3 3p14.1 yes melanoma E Dom A yes Waardenburg syndrome type 2, Tietz syndrome
237
+ MKL1 megakaryoblastic leukemia (translocation) 1 57591 22 22q13 yes acute megakaryocytic leukemia L Dom T RBM15
238
+ MLF1 myeloid leukemia factor 1 4291 3 3q25.1 yes AML L Dom T NPM1
239
+ MLH1 E.coli MutL homolog gene 4292 3 3p21.3 yes yes colorectal, endometrial, ovarian, CNS colorectal, endometrial, ovarian, CNS Hereditary non-polyposis colorectal cancer, Turcot syndrome E, O Rec D, Mis, N, F, S
240
+ MLL myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4297 11 11q23 yes AML, ALL L Dom T, O MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB
241
+ MLLT1 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL) 4298 19 19p13.3 yes AL L Dom T MLL
242
+ MLLT10 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10) 8028 10 10p12 yes AL L Dom T MLL, PICALM, CDK6
243
+ MLLT2 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 2 (AF4) 4299 4 4q21 yes AL L Dom T MLL
244
+ MLLT3 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9) 4300 9 9p22 yes ALL L Dom T MLL
245
+ MLLT4 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6) 4301 6 6q27 yes AL L Dom T MLL
246
+ MLLT6 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17) 4302 17 17q21 yes AL L Dom T MLL
247
+ MLLT7 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7 (AFX1) 4303 X Xq13.1 yes AL L Dom T MLL
248
+ MN1 meningioma (disrupted in balanced translocation) 1 4330 22 22q13 yes AML, meningioma L, O Dom T ETV6
249
+ MPL myeloproliferative leukemia virus oncogene, thrombopoietin receptor 4352 1 p34 yes yes MPD MPD Familial essential thrombocythemia L Dom Mis yes congenital amegakaryocytic thrombocytopenia
250
+ MSF MLL septin-like fusion 10801 17 17q25 yes AML* L Dom T MLL
251
+ MSH2 mutS homolog 2 (E. coli) 4436 2 2p22-p21 yes yes colorectal, endometrial, ovarian colorectal, endometrial, ovarian Hereditary non-polyposis colorectal cancer E Rec D, Mis, N, F, S
252
+ MSH6 mutS homolog 6 (E. coli) 2956 2 2p16 yes yes colorectal colorectal, endometrial, ovarian Hereditary non-polyposis colorectal cancer E Rec Mis, N, F, S
253
+ MSI2 musashi homolog 2 (Drosophila) 124540 17 17q23.2 yes CML L Dom T HOXA9
254
+ MSN moesin 4478 X Xq11.2-q12 yes ALCL L Dom T ALK
255
+ MTCP1 mature T-cell proliferation 1 4515 X Xq28 yes T cell prolymphocytic leukemia L Dom T TRA@
256
+ MUC1 mucin 1, transmembrane 4582 1 1q21 yes B-NHL L Dom T IGH@
257
+ MUTYH mutY homolog (E. coli) 4595 1 1p34.3-1p32.1 yes colorectal Adenomatous polyposis coli E Rec Mis
258
+ MYB v-myb myeloblastosis viral oncogene homolog 4602 6 6q22-23 yes adenoid cystic carcinoma E Dom T NFIB
259
+ MYC v-myc myelocytomatosis viral oncogene homolog (avian) 4609 8 8q24.12-q24.13 yes Burkitt lymphoma, amplified in other cancers, B-CLL L, E Dom A, T IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@
260
+ MYCL1 v-myc myelocytomatosis viral oncogene homolog 1, lung carcinoma derived (avian) 4610 1 1p34.3 yes small cell lung E Dom A
261
+ MYCN v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian) 4613 2 2p24.1 yes neuroblastoma O Dom A
262
+ MYH11 myosin, heavy polypeptide 11, smooth muscle 4629 16 16p13.13-p13.12 yes AML L Dom T CBFB
263
+ MYH9 myosin, heavy polypeptide 9, non-muscle 4627 22 22q13.1 yes ALCL L Dom T ALK yes Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome
264
+ MYST4 MYST histone acetyltransferase (monocytic leukemia) 4 (MORF) 23522 10 10q22 yes AML L Dom T CREBBP
265
+ NACA nascent-polypeptide-associated complex alpha polypeptide 4666 12 12q23-q24.1 yes NHL L Dom T BCL6
266
+ NBS1 Nijmegen breakage syndrome 1 (nibrin) 4683 8 8q21 yes NHL, glioma, medulloblastoma, rhabdomyosarcoma Nijmegen breakage syndrome L, E, M, O Rec Mis, N, F
267
+ NCOA1 nuclear receptor coactivator 1 8648 2 2p23 yes alveolar rhadomyosarcoma M Dom T PAX3
268
+ NCOA2 nuclear receptor coactivator 2 (TIF2) 10499 8 8q13.1 yes AML L Dom T RUNXBP2
269
+ NCOA4 nuclear receptor coactivator 4 - PTC3 (ELE1) 8031 10 10q11.2 yes papillary thyroid E Dom T RET
270
+ NF1 neurofibromatosis type 1 gene 4763 17 17q12 yes yes neurofibroma, glioma neurofibroma, glioma Neurofibromatosis type 1 O Rec D, Mis, N, F, S, O
271
+ NF2 neurofibromatosis type 2 gene 4771 22 22q12.2 yes yes meningioma, acoustic neuroma, renal meningioma, acoustic neuroma Neurofibromatosis type 2 O Rec D, Mis, N, F, S, O
272
+ NFIB nuclear factor I/B 4781 9 9p24.1 yes adenoid cystic carcinoma, lipoma E Dom T MYB, HGMA2
273
+ NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) 4791 10 10q24 yes B-NHL L Dom T IGH@
274
+ NIN ninein (GSK3B interacting protein) 51199 14 14q24 yes MPD L Dom T PDGFRB
275
+ NONO non-POU domain containing, octamer-binding 4841 X Xq13.1 yes papillary renal cancer E Dom T TFE3
276
+ NOTCH1 Notch homolog 1, translocation-associated (Drosophila) (TAN1) 4851 9 9q34.3 yes T-ALL L Dom T, Mis, O TRB@
277
+ NOTCH2 Notch homolog 2 4853 1 1p13-p11 yes marginal zone lymphoma, DLBCL L Dom N, F, Mis
278
+ NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin) 4869 5 5q35 yes NHL, APL, AML L Dom T, F ALK, RARA, MLF1
279
+ NR4A3 nuclear receptor subfamily 4, group A, member 3 (NOR1) 8013 9 9q22 yes extraskeletal myxoid chondrosarcoma M Dom T EWSR1
280
+ NRAS neuroblastoma RAS viral (v-ras) oncogene homolog 4893 1 1p13.2 yes melanoma, MM, AML, thyroid L, E Dom Mis
281
+ NSD1 nuclear receptor binding SET domain protein 1 64324 5 5q35 yes AML L Dom T NUP98 yes Sotos Syndrome
282
+ NTRK1 neurotrophic tyrosine kinase, receptor, type 1 4914 1 1q21-q22 yes papillary thyroid E Dom T TPM3, TPR, TFG
283
+ NTRK3 neurotrophic tyrosine kinase, receptor, type 3 4916 15 15q25 yes congenital fibrosarcoma, Secretory breast E, M Dom T ETV6
284
+ NUMA1 nuclear mitotic apparatus protein 1 4926 11 11q13 yes APL L Dom T RARA
285
+ NUP214 nucleoporin 214kDa (CAN) 8021 9 9q34.1 yes AML, T-ALL L Dom T DEK, SET, ABL1
286
+ NUP98 nucleoporin 98kDa 4928 11 11p15 yes AML L Dom T HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11
287
+ NUT nuclear protien in testis 256646 15 q13 yes lethal midline carcinoma of young people E Dom T BRD4, BRD3
288
+ OLIG2 oligodendrocyte lineage transcription factor 2 (BHLHB1) 10215 21 21q22.11 yes T-ALL L Dom T TRA@
289
+ OMD osteomodulin 4958 9 9q22.31 yes aneurysmal bone cysts M Dom T USP6
290
+ P2RY8 purinergic receptor P2Y, G-protein coupled, 8 286530 X,Y Xp22.3; Yp11.3 yes B-ALL, Downs associated ALL L Dom T CRLF2
291
+ PAFAH1B2 platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa 5049 11 11q23 yes MLCLS L Dom T IGH@
292
+ PALB2 partner and localizer of BRCA2 79728 16 16p12.1 yes Wilms tumor, medulloblastoma, AML ,breast Fanconi anaemia N, breast cancer susceptibility L, O, E Rec F, N, Mis
293
+ PAX3 paired box gene 3 5077 2 2q35 yes alveolar rhabdomyosarcoma M Dom T FOXO1A, NCOA1 yes Waardenburg syndrome; craniofacial-deafness-hand syndrome
294
+ PAX5 paired box gene 5 (B-cell lineage specific activator protein) 5079 9 9p13 yes NHL, ALL, B-ALL L Dom T, Mis, D, F, S IGH@, ETV6, PML, FOXP1, ZNF521, ELN
295
+ PAX7 paired box gene 7 5081 1 1p36.2-p36.12 yes alveolar rhabdomyosarcoma M Dom T FOXO1A
296
+ PAX8 paired box gene 8 7849 2 2q12-q14 yes follicular thyroid E Dom T PPARG yes Thyroid dysgenesis
297
+ PBX1 pre-B-cell leukemia transcription factor 1 5087 1 1q23 yes pre B-ALL, myoepithelioma L, M Dom T TCF3, EWSR1
298
+ PCM1 pericentriolar material 1 (PTC4) 5108 8 8p22-p21.3 yes papillary thyroid, CML, MPD E, L Dom T RET, JAK2
299
+ PCSK7 proprotein convertase subtilisin/kexin type 7 9159 11 11q23.3 yes MLCLS L Dom T IGH@
300
+ PDE4DIP phosphodiesterase 4D interacting protein (myomegalin) 9659 1 1q12 yes MPD L Dom T PDGFRB
301
+ PDGFB platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog) 5155 22 22q12.3-q13.1 yes DFSP M Dom T COL1A1
302
+ PDGFRA platelet-derived growth factor, alpha-receptor 5156 4 4q11-q13 yes GIST, idiopathic hypereosinophilic syndrome L, M, O Dom Mis, O, T FIP1L1
303
+ PDGFRB platelet-derived growth factor receptor, beta polypeptide 5159 5 5q31-q32 yes MPD, AML, CMML, CML L Dom T ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP
304
+ PER1 period homolog 1 (Drosophila) 5187 17 17p13.1-17p12 yes AML, CMML L Dom T ETV6
305
+ PHOX2B paired-like homeobox 2b 8929 4 4p12 yes yes neuroblastoma neuroblastoma familial neuroblastoma O Rec Mis, F yes congenital central hypoventilation syndrome
306
+ PICALM phosphatidylinositol binding clathrin assembly protein (CALM) 8301 11 11q14 yes TALL, AML, L Dom T MLLT10, MLL
307
+ PIK3CA phosphoinositide-3-kinase, catalytic, alpha polypeptide 5290 3 3q26.3 yes colorectal, gastric, gliobastoma, breast E, O Dom Mis
308
+ PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 5295 5 5q13.1 yes gliobastoma, ovarian, colorectal E, O Rec Mis, F, O
309
+ PIM1 pim-1 oncogene 5292 6 6p21.2 yes NHL L Dom T BCL6
310
+ PLAG1 pleiomorphic adenoma gene 1 5324 8 8q12 yes salivary adenoma E Dom T TCEA1, LIFR, CTNNB1, CHCHD7
311
+ PML promyelocytic leukemia 5371 15 15q22 yes APL, ALL L Dom T RARA, PAX5
312
+ PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae) 5378 2 2q31-q33 yes colorectal, endometrial, ovarian Hereditary non-polyposis colorectal cancer E Rec Mis, N
313
+ PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 5395 7 7p22 yes colorectal, endometrial, ovarian, medulloblastoma, glioma Hereditary non-polyposis colorectal cancer, Turcot syndrome E Rec Mis, N, F
314
+ PMX1 paired mesoderm homeo box 1 5396 1 1q24 yes AML L Dom T NUP98
315
+ PNUTL1 peanut-like 1 (Drosophila) 5413 22 22q11.2 yes AML L Dom T MLL
316
+ POU2AF1 POU domain, class 2, associating factor 1 (OBF1) 5450 11 11q23.1 yes NHL L Dom T BCL6
317
+ POU5F1 POU domain, class 5, transcription factor 1 5460 6 6p21.31 yes sarcoma M Dom T EWSR1
318
+ PPARG peroxisome proliferative activated receptor, gamma 5468 3 3p25 yes follicular thyroid E Dom T PAX8 yes Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension
319
+ PRCC papillary renal cell carcinoma (translocation-associated) 5546 1 1q21.1 yes papillary renal E Dom T TFE3
320
+ PRDM16 PR domain containing 16 63976 1 1p36.23-p33 yes MDS, AML L Dom T EVI1
321
+ PRF1 perforin 1 (pore forming protein) 5551 10 10q22 yes various leukaemia, lymphoma L Rec M Type 2 familial hemophagocytic lymphohistiocytosis
322
+ PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1) 5573 17 17q23-q24 yes yes papillary thyroid myxoma, endocrine, papillary thyroid Carney complex E, M Dom, Rec T, Mis, N, F, S RET
323
+ PRO1073 PRO1073 protein (ALPHA) 29005 11 11q31.1 yes renal cell carcinoma (childhood epithelioid) E Dom T TFEB
324
+ PSIP2 PC4 and SFRS1 interacting protein 2 (LEDGF) 11168 9 9p22.2 yes AML L Dom T NUP98
325
+ PTCH Homolog of Drosophila Patched gene 5727 9 9q22.3 yes yes skin basal cell , medulloblastoma skin basal cell, medulloblastoma Nevoid Basal Cell Carcinoma Syndrome E, M Rec Mis, N, F, S
326
+ PTEN phosphatase and tensin homolog gene 5728 10 10q23.3 yes yes glioma, prostate, endometrial harmartoma, glioma, prostate, endometrial Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome L, E, M, O Rec D, Mis, N, F, S
327
+ PTPN11 protein tyrosine phosphatase, non-receptor type 11 5781 12 12q24.1 yes JMML, AML, MDS L Dom Mis yes Noonan Syndrome
328
+ RAB5EP rabaptin, RAB GTPase binding effector protein 1 (RABPT5) 9135 17 17p13 yes CMML L Dom T PDGFRB
329
+ RAD51L1 RAD51-like 1 (S. cerevisiae) (RAD51B) 5890 14 14q23-q24.2 yes lipoma, uterine leiomyoma M Dom T HMGA2
330
+ RAF1 v-raf-1 murine leukemia viral oncogene homolog 1 5894 3 3p25 yes pilocytic astrocytoma M Dom T SRGAP3
331
+ RANBP17 RAN binding protein 17 64901 5 5q34 yes ALL L Dom T TRD@
332
+ RAP1GDS1 RAP1, GTP-GDP dissociation stimulator 1 5910 4 4q21-q25 yes T-ALL L Dom T NUP98
333
+ RARA retinoic acid receptor, alpha 5914 17 17q12 yes APL L Dom T PML, ZNF145, TIF1, NUMA1, NPM1
334
+ RB1 retinoblastoma gene 5925 13 13q14 yes yes retinoblastoma, sarcoma, breast, small cell lung retinoblastoma, sarcoma, breast, small cell lung Familial retinoblastoma L, E, M, O Rec D, Mis, N, F, S
335
+ RBM15 RNA binding motif protein 15 64783 1 1p13 yes acute megakaryocytic leukemia L Dom T MKL1
336
+ RECQL4 RecQ protein-like 4 9401 8 8q24.3 yes osteosarcoma, skin basal and sqamous cell Rothmund-Thompson Syndrome M Rec N, F, S
337
+ REL v-rel reticuloendotheliosis viral oncogene homolog (avian) 5966 2 2p13-p12 yes Hodgkin Lymphoma L Dom A
338
+ RET ret proto-oncogene 5979 10 10q11.2 yes yes medullary thyroid, papillary thyroid, pheochromocytoma medullary thyroid, papillary thyroid, pheochromocytoma Multiple endocrine neoplasia 2A/2B E, O Dom T, Mis, N, F H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3 yes Hirschsprung disease
339
+ ROS1 v-ros UR2 sarcoma virus oncogene homolog 1 (avian) 6098 6 6q22 yes glioblastoma, NSCLC O Dom T GOPC, ROS1
340
+ RPL22 ribosomal protein L22 (EAP) 6146 1 1p36.31 yes AML, CML L Dom T RUNX1
341
+ RPN1 ribophorin I 6184 3 3q21.3-q25.2 yes AML L Dom T EVI1
342
+ RUNX1 runt-related transcription factor 1 (AML1) 861 21 21q22.3 yes AML, preB- ALL, T-ALL L Dom T RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4
343
+ RUNXBP2 runt-related transcription factor binding protein 2 (MOZ/ZNF220) 7994 8 8p11 yes AML L Dom T CREBBP, NCOA2, EP300
344
+ SBDS Shwachman-Bodian-Diamond syndrome protein 51119 7 7q11 yes AML, MDS Schwachman-Diamond syndrome L Rec Gene Conversion
345
+ SDH5 chromosome 11 open reading frame 79 54949 11 11q12.2 yes paraganglioma Familial paraganglioma M Rec M
346
+ SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip) 6390 1 1p36.1-p35 yes paraganglioma, pheochromocytoma Familial paraganglioma O Rec Mis, N, F
347
+ SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa 6391 1 1q21 yes paraganglioma, pheochromocytoma Familial paraganglioma O Rec Mis, N, F
348
+ SDHD succinate dehydrogenase complex, subunit D, integral membrane protein 6392 11 11q23 yes paraganglioma, pheochromocytoma Familial paraganglioma O Rec Mis, N, F, S
349
+ SEPT6 septin 6 23157 X Xq24 yes AML L Dom T MLL
350
+ SET SET translocation 6418 9 9q34 yes AML L Dom T NUP214
351
+ SETD2 SET domain containing 2 29072 3 3p21.31 yes clear cell renal carcinoma E Rec N, F, S, Mis
352
+ SFPQ splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated) 6421 1 1p34.3 yes papillary renal cell E Dom T TFE3
353
+ SFRS3 splicing factor, arginine/serine-rich 3 6428 6 6p21 yes follicular lymphoma L Dom T BCL6
354
+ SH3GL1 SH3-domain GRB2-like 1 (EEN) 6455 19 19p13.3 yes AL L Dom T MLL
355
+ SIL TAL1 (SCL) interrupting locus 6491 1 1p32 yes T-ALL L Dom T TAL1
356
+ SLC45A3 solute carrier family 45, member 3 85414 1 1q32 yes prostate E Dom T ETV1, ETV5, ELK4, ERG
357
+ SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 6597 19 19p13.2 yes NSCLC E Rec F, N, Mis
358
+ SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 6598 22 22q11 yes yes malignant rhabdoid malignant rhabdoid Rhabdoid predisposition syndrome M Rec D, N, F, S
359
+ SMO smoothened homolog (Drosophila) 6608 7 7q31-q32 yes skin basal cell E Dom Mis
360
+ SOCS1 suppressor of cytokine signaling 1  8651   16 16p13.13 yes Hodgkin Lymphoma, PMBL L Rec F, O
361
+ SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 9901 3 3p25.3 yes pilocytic astrocytoma M Dom T RAF1
362
+ SS18 synovial sarcoma translocation, chromosome 18 6760 18 18q11.2 yes synovial sarcoma M Dom T SSX1, SSX2
363
+ SS18L1 synovial sarcoma translocation gene on chromosome 18-like 1 26039 20 20q13.3 yes synovial sarcoma M Dom T SSX1
364
+ SSH3BP1 spectrin SH3 domain binding protein 1 10006 10 10p11.2 yes AML L Dom T MLL
365
+ SSX1 synovial sarcoma, X breakpoint 1 6756 X Xp11.23-p11.22 yes synovial sarcoma M Dom T SS18
366
+ SSX2 synovial sarcoma, X breakpoint 2 6757 X Xp11.23-p11.22 yes synovial sarcoma M Dom T SS18
367
+ SSX4 synovial sarcoma, X breakpoint 4 6759 X Xp11.23 yes synovial sarcoma M Dom T SS18
368
+ STK11 serine/threonine kinase 11 gene (LKB1) 6794 19 19p13.3 yes yes NSCLC, pancreatic jejunal harmartoma, ovarian, testicular, pancreatic Peutz-Jeghers syndrome E, M, O Rec D, Mis, N, F, S
369
+ STL Six-twelve leukemia gene 7955 6 6q23 yes B-ALL L Dom T ETV6
370
+ SUFU suppressor of fused homolog (Drosophila) 51684 10 10q24.32 yes yes medulloblastoma medulloblastoma Medulloblastoma predisposition O Rec D, F, S
371
+ SUZ12 suppressor of zeste 12 homolog (Drosophila) 23512 17 17q11.2 yes endometrial stromal tumours M Dom T JAZF1
372
+ SYK spleen tyrosine kinase 6850 9 9q22 yes MDS, peripheral T-cell lymphoma L Dom T ETV6, ITK
373
+ TAF15 TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa 8148 17 17q11.1-q11.2 yes extraskeletal myxoid chondrosarcomas, ALL L, M Dom T TEC, CHN1, ZNF384
374
+ TAL1 T-cell acute lymphocytic leukemia 1 (SCL) 6886 1 1p32 yes lymphoblastic leukemia/biphasic L Dom T TRD@, SIL
375
+ TAL2 T-cell acute lymphocytic leukemia 2 6887 9 9q31 yes T-ALL L Dom T TRB@
376
+ TCEA1 transcription elongation factor A (SII), 1 6917 8 8q11.2 yes salivary adenoma E Dom T PLAG1
377
+ TCF1 transcription factor 1, hepatic (HNF1) 6927 12 12q24.2 yes yes hepatic adenoma, hepatocellular ca hepatic adenoma, hepatocellular ca Familial Hepatic Adenoma E Rec Mis, F yes Maturity-onset diabetes of the young, TYPE III
378
+ TCF12 transcription factor 12 (HTF4, helix-loop-helix transcription factors 4) 6938 15 15q21 yes extraskeletal myxoid chondrosarcoma M Dom T TEC
379
+ TCF3 transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47) 6929 19 19p13.3 yes pre B-ALL L Dom T PBX1, HLF, TFPT
380
+ TCL1A T-cell leukemia/lymphoma 1A 8115 14 14q32.1 yes T-CLL L Dom T TRA@
381
+ TCL6 T-cell leukemia/lymphoma 6 27004 14 14q32.1 yes T-ALL L Dom T TRA@
382
+ TET2 tet oncogene family member 2 54790 4 4q24 yes MDS L Rec Mis N, F
383
+ TFE3 transcription factor binding to IGHM enhancer 3 7030 X Xp11.22 yes papillary renal, alveolar soft part sarcoma, renal E Dom T SFPQ, ASPSCR1, PRCC, NONO, CLTC
384
+ TFEB transcription factor EB 7942 6 6p21 yes renal (childhood epithelioid) E,M Dom T ALPHA
385
+ TFG TRK-fused gene 10342 3 3q11-q12 yes papillary thyroid, ALCL, NSCLC E, L Dom T NTRK1, ALK
386
+ TFPT TCF3 (E2A) fusion partner (in childhood Leukemia) 29844 19 19q13 yes pre-B ALL L Dom T TCF3
387
+ TFRC transferrin receptor (p90, CD71) 7037 3 3q29 yes NHL L Dom T BCL6
388
+ THRAP3 thyroid hormone receptor associated protein 3 (TRAP150) 9967 1 1p34.3 yes aneurysmal bone cysts M Dom T USP6
389
+ TIF1 transcriptional intermediary factor 1 (PTC6,TIF1A) 8805 7 7q32-q34 yes APL L Dom T RARA
390
+ TLX1 T-cell leukemia, homeobox 1 (HOX11) 3195 10 10q24 yes T-ALL L Dom T TRB@, TRD@
391
+ TLX3 T-cell leukemia, homeobox 3 (HOX11L2) 30012 5 5q35.1 yes T-ALL L Dom T BCL11B
392
+ TMPRSS2 transmembrane protease, serine 2 7113 21 21q22.3 yes prostate E Dom T ERG, ETV1, ETV4, ETV5
393
+ TNFAIP3 tumor necrosis factor, alpha-induced protein 3 7128 6 6q23 yes marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma L Rec D, N, F
394
+ TNFRSF17 tumor necrosis factor receptor superfamily, member 17 608 16 16p13.1 yes intestinal T-cell lymphoma L Dom T IL2
395
+ TNFRSF6 tumor necrosis factor receptor superfamily, member 6 (FAS) 355 10 10q24.1 yes TGCT, nasal NK/T lymphoma, skin squamous cell ca -burn scar-related L, E, O Rec Mis yes Autoimmune lymphoproliferative syndrome
396
+ TOP1 topoisomerase (DNA) I 7150 20 20q12-q13.1 yes AML* L Dom T NUP98
397
+ TP53 tumor protein p53 7157 17 17p13 yes yes breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types Li-Fraumeni syndrome L, E, M, O Rec Mis, N, F
398
+ TPM3 tropomyosin 3 7170 1 1q22-q23 yes papillary thyroid, ALCL E, L Dom T NTRK1, ALK
399
+ TPM4 tropomyosin 4 7171 19 19p13.1 yes ALCL L Dom T ALK
400
+ TPR translocated promoter region 7175 1 1q25 yes papillary thyroid E Dom T NTRK1
401
+ TRA@ T cell receptor alpha locus 6955 14 14q11.2 yes T-ALL L Dom T ATL,OLIG2, MYC, TCL1A, TCL6, MTCP1, TCL6
402
+ TRB@ T cell receptor beta locus 6957 7 7q35 yes T-ALL L Dom T HOX11, LCK, NOTCH1, TAL2, LYL1
403
+ TRD@ T cell receptor delta locus 6964 14 14q11 yes T-cell leukemia L Dom T TAL1, HOX11, TLX1, LMO1, LMO2, RANBP17
404
+ TRIM27 tripartite motif-containing 27 5987 6 6p22 yes papillary thyroid E Dom T RET
405
+ TRIM33 tripartite motif-containing 33 (PTC7,TIF1G) 51592 1 1p13 yes papillary thyroid E Dom T RET
406
+ TRIP11 thyroid hormone receptor interactor 11 9321 14 14q31-q32 yes AML L Dom T PDGFRB
407
+ TSC1 tuberous sclerosis 1 gene 7248 9 9q34 yes hamartoma, renal cell Tuberous sclerosis 1 E, O Rec D, Mis, N, F, S
408
+ TSC2 tuberous sclerosis 2 gene 7249 16 16p13.3 yes hamartoma, renal cell Tuberous sclerosis 2 E, O Rec D, Mis, N, F, S
409
+ TSHR thyroid stimulating hormone receptor 7253 14 14q31 yes yes toxic thyroid adenoma thyroid adenoma E Dom Mis yes Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism
410
+ TTL tubulin tyrosine ligase 150465 2 2q13 yes ALL L Dom T ETV6
411
+ USP6 ubiquitin specific peptidase 6 (Tre-2 oncogene) 9098 17 17p13 yes aneurysmal bone cysts M Dom T COL1A1, CDH11, ZNF9, OMD
412
+ VHL von Hippel-Lindau syndrome gene 7428 3 3p25 yes yes renal, hemangioma, pheochromocytoma renal, hemangioma, pheochromocytoma von Hippel-Lindau syndrome E, M, O Rec D, Mis, N, F, S
413
+ WAS Wiskott-Aldrich syndrome 7454 X Xp11.23-p11.22 lymphoma Wiskott-Aldrich syndrome L X-linked recessive Mis, N, F, S
414
+ WHSC1 Wolf-Hirschhorn syndrome candidate 1(MMSET) 7468 4 4p16.3 yes MM L Dom T IGH@
415
+ WHSC1L1 Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3) 54904 8 8p12 yes AML L Dom T NUP98
416
+ WRN Werner syndrome (RECQL2) 7486 8 8p12-p11.2 yes osteosarcoma, meningioma, others Werner Syndrome L, E, M, O Rec Mis, N, F, S
417
+ WT1 Wilms tumour 1 gene 7490 11 11p13 yes yes Wilms, desmoplastic small round cell tumor Wilms Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor O Rec D, Mis, N, F, S EWSR1
418
+ WTX family with sequence similarity 123B (FAM123B) 139285 X Xq11.1 yes Wilms tumour O Rec F, D, N, Mis
419
+ XPA xeroderma pigmentosum, complementation group A 7507 9 9q22.3 yes skin basal cell, skin squamous cell, melanoma Xeroderma pigmentosum (A) E Rec Mis, N, F, S
420
+ XPC xeroderma pigmentosum, complementation group C 7508 3 3p25 yes skin basal cell, skin squamous cell, melanoma Xeroderma pigmentosum (C) E Rec Mis, N, F, S
421
+ ZNF145 zinc finger protein 145 (PLZF) 7704 11 11q23.1 yes APL L Dom T RARA
422
+ ZNF198 zinc finger protein 198 7750 13 13q11-q12 yes MPD, NHL L Dom T FGFR1
423
+ ZNF278 zinc finger protein 278 (ZSG) 23598 22 22q12-q14 yes Ewing sarcoma M Dom T EWSR1
424
+ ZNF331 zinc finger protein 331 55422 19 19q13.3-q13.4 yes follicular thyroid adenoma E Dom T ?
425
+ ZNF384 zinc finger protein 384 (CIZ/NMP4) 171017 12 12p13 yes ALL L Dom T EWSR1, TAF15
426
+ ZNF521 zinc finger protein 521 25925 18 18q11.2 yes ALL L Dom T PAX5
427
+ ZNF9 zinc finger protein 9 (a cellular retroviral nucleic acid binding protein) 7555 3 3q21 yes aneurysmal bone cysts M Dom T USP6
428
+ ZNFN1A1 zinc finger protein, subfamily 1A, 1 (Ikaros) 10320 7 7p12 yes ALL, DLBL L Dom T BCL6
@@ -0,0 +1,20 @@
1
+ require File.join(File.dirname(__FILE__),'../lib/rake_helper')
2
+ require 'rbbt/sources/organism'
3
+
4
+ BIOGRID_URL = "http://thebiogrid.org/downloads/archives/Release%20Archive/BIOGRID-3.1.77/BIOGRID-ORGANISM-3.1.77.tab2.zip"
5
+
6
+ file 'source' do |t|
7
+ FileUtils.mkdir_p t.name
8
+ Misc.in_dir(t.name) do
9
+ CMD::cmd("wget '#{BIOGRID_URL}' -O biogrid.zip")
10
+ CMD::cmd('unzip biogrid.zip')
11
+ end
12
+ end
13
+
14
+ rule /(\w+)\/protein_protein/ => 'source' do |t|
15
+ org = t.name.match(/(\w+)\/protein_protein/)[1]
16
+ FileUtils.mkdir_p File.dirname(t.name)
17
+ name = Organism.name(org)
18
+ source_file = Dir.glob(File.join(t.prerequisites.first, '*')).select{|file| file =~ /#{name.sub(' ', '_')}/}.first
19
+ FileUtils.cp source_file, t.name
20
+ end
@@ -0,0 +1,50 @@
1
+ require 'rbbt-util'
2
+ require 'nokogiri'
3
+
4
+ URL="http://www.snpedia.com/index.php/"
5
+
6
+ file :snps do |t|
7
+ all_snps = Open.read("http://www.snpedia.com/files/gbrowse/snpedia.gff").scan(/rs\d+/).uniq
8
+
9
+ data = TSV.new({}, :double)
10
+ data.key_field = "SNP ID"
11
+ data.fields = %w(Genotype Effect Magnitude)
12
+ all_snps.each{|snp|
13
+ begin
14
+ doc = Nokogiri::HTML(Open.read(File.join(URL, snp)))
15
+ rescue
16
+ puts "SNP #{ snp } not found"
17
+ next
18
+ end
19
+
20
+ table = doc.css('table#querytable4').first
21
+
22
+ if table.nil?
23
+ puts "No table for #{ snp }"
24
+ next
25
+ end
26
+
27
+ info = []
28
+ table.css("tr")[1..-1].each do |row|
29
+ genotype, magnitude, effect = row.css("td")
30
+
31
+ genotype = genotype.content.match(/\((.*)\)/)[1]
32
+
33
+ if magnitude.css("span").empty?
34
+ magnitude = ""
35
+ else
36
+ magnitude = magnitude.css("span").first.content
37
+ end
38
+
39
+ effect = effect.content
40
+
41
+ info << [genotype, magnitude, effect]
42
+ end
43
+
44
+ info = NamedArray.name(info, %w(Genotype Effect Magnitude))
45
+ data[snp] = info.zip_fields
46
+ }
47
+
48
+ Open.write(t.name, data.to_s)
49
+ end
50
+