Cancer metastasis database

Annotation category 5

Gene information

Gene ID 2965
Symbol

GTF2H1

Synonymous

BTF2|P62|TFB1|TFIIH

Full name

general transcription factor IIH, polypeptide 1, 62kDa

Gene description

BTF2 p62|TFIIH basal transcription factor complex p62 subunit|basic transcription factor 2 62 kDa subunit|general transcription factor IIH polypeptide 1|general transcription factor IIH subunit 1

Cytoband

11p15.1-p14

Gene type

protein-coding

Synonymous

MIM:189972; HGNC:HGNC:4655; Ensembl:ENSG00000110768; HPRD:01807; Vega:OTTHUMG00000167690

COSMIC somatic mutation

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.1055C>T; p.A352V; 11:18351882-18351882

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.608-2A>G; p.?; 11:18341259-18341259

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.1406G>C; p.G469A; 11:18358579-18358579

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.426C>A; p.F142L; 11:18338187-18338187

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1113G>A; p.T371T; 11:18351940-18351940

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.615G>A; p.M205I; 11:18341268-18341268

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.426C>T; p.F142F; 11:18338187-18338187

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.46C>T; p.R16C; 11:18333120-18333120

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.46C>T; p.R16C; 11:18333120-18333120

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.483G>A; p.K161K; 11:18338244-18338244

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1029C>T; p.D343D; 11:18347895-18347895

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.493G>T; p.G165C; 11:18338254-18338254

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.758-2A>G; p.?; 11:18341526-18341526

 pancreascarcinomaUnknown

c.758-2A>G; p.?; 11:18341526-18341526

 pancreascarcinomaUnknown

c.758-2A>G; p.?; 11:18341526-18341526

 pancreascarcinomaUnknown

c.677A>G; p.Q226R; 11:18341330-18341330

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1217G>T; p.S406I; 11:18352403-18352403

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.523C>T; p.R175W; 11:18339573-18339573

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.265C>T; p.R89*; 11:18335864-18335864

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.155G>T; p.C52F; 11:18335754-18335754

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1398A>C; p.V466V; 11:18358571-18358571

 prostatecarcinomaSubstitution - coding silent

c.882C>T; p.S294S; 11:18347632-18347632

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.666A>G; p.T222T; 11:18341319-18341319

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.1625G>A; p.R542Q; 11:18365847-18365847

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.645G>C; p.M215I; 11:18341298-18341298

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1417C>T; p.R473*; 11:18358590-18358590

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.430G>A; p.A144T; 11:18338191-18338191

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1208C>A; p.S403Y; 11:18352394-18352394

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.325A>G; p.K109E; 11:18335924-18335924

 skinmalignant_melanomaSubstitution - Missense

c.179A>C; p.K60T; 11:18335778-18335778

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.266G>A; p.R89Q; 11:18335865-18335865

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.266G>A; p.R89Q; 11:18335865-18335865

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.487G>T; p.D163Y; 11:18338248-18338248

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.280G>A; p.D94N; 11:18335879-18335879

 skinmalignant_melanomaSubstitution - Missense

c.280G>A; p.D94N; 11:18335879-18335879

 skinmalignant_melanomaSubstitution - Missense

c.1071C>T; p.S357S; 11:18351898-18351898

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1496G>T; p.R499L; 11:18360643-18360643

 skin; neckmalignant_melanomaSubstitution - Missense

c.517G>A; p.D173N; 11:18339567-18339567

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1219A>G; p.I407V; 11:18352405-18352405

 livercarcinomaSubstitution - Missense

c.644T>C; p.M215T; 11:18341297-18341297

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1508C>T; p.T503M; 11:18360655-18360655

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1418G>A; p.R473Q; 11:18358591-18358591

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1338_1339delGC; p.Q447fs*9; 11:18358029-18358030

 central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.990T>C; p.S330S; 11:18347856-18347856

 pancreascarcinomaSubstitution - coding silent

c.1584G>A; p.M528I; 11:18365806-18365806

 breastcarcinomaSubstitution - Missense

c.1228G>T; p.E410*; 11:18352414-18352414

 breastcarcinomaSubstitution - Nonsense

c.89G>C; p.R30T; 11:18333163-18333163

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1537C>T; p.R513W; 11:18360684-18360684

 skinmalignant_melanomaSubstitution - Missense

c.1537C>T; p.R513W; 11:18360684-18360684

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.875C>G; p.S292C; 11:18347625-18347625

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.511C>A; p.L171M; 11:18338272-18338272

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1264C>T; p.L422F; 11:18357955-18357955

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1212T>G; p.F404L; 11:18352398-18352398

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.747A>T; p.I249I; 11:18341400-18341400

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.127A>G; p.I43V; 11:18333201-18333201

 breastcarcinomaSubstitution - Missense

c.1171T>G; p.S391A; 11:18352357-18352357

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.396T>C; p.V132V; 11:18338157-18338157

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1176A>G; p.L392L; 11:18352362-18352362

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1039C>T; p.P347S; 11:18347905-18347905

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1017C>T; p.S339S; 11:18347883-18347883

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent