Cancer metastasis database

Annotation category 5

Gene information

Gene ID 2067
Symbol

ERCC1

Synonymous

COFS4|RAD10|UV20

Full name

excision repair cross-complementation group 1

Gene description

DNA excision repair protein ERCC-1|excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)

Cytoband

19q13.32

Gene type

protein-coding

Synonymous

MIM:126380; HGNC:HGNC:3433; Ensembl:ENSG00000012061; HPRD:00533; Vega:OTTHUMG00000182121

COSMIC somatic mutation

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.287C>A; p.A96E; 19:45421212-45421212

 skin; earcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.662A>T; p.D221V; 19:45414901-45414901

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.326G>A; p.G109D; 19:45420423-45420423

 livercarcinomaSubstitution - Missense

c.326G>A; p.G109D; 19:45420423-45420423

 livercarcinomaSubstitution - Missense

c.41C>T; p.S14L; 19:45423334-45423334

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.853C>A; p.L285M; 19:45413667-45413667

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.53C>T; p.A18V; 19:45423322-45423322

 ovaryother; neoplasmSubstitution - Missense

c.53C>T; p.A18V; 19:45423322-45423322

 ovaryother; neoplasmSubstitution - Missense

c.385G>A; p.D129N; 19:45420364-45420364

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.98C>A; p.P33H; 19:45423277-45423277

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.835C>A; p.P279T; 19:45413685-45413685

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.98C>A; p.P33H; 19:45423277-45423277

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.658G>A; p.A220T; 19:45414905-45414905

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.723C>T; p.T241T; 19:45414014-45414014

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.795C>T; p.A265A; 19:45413725-45413725

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - coding silent

c.165G>A; p.A55A; 19:45421334-45421334

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.468G>A; p.R156R; 19:45419155-45419155

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.182C>T; p.A61V; 19:45421317-45421317

 skinmalignant_melanomaSubstitution - Missense

c.694G>A; p.V232I; 19:45414869-45414869

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.792C>A; p.I264I; 19:45413728-45413728

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.702+6G>A; p.?; 19:45414855-45414855

 stomachadenocarcinomaUnknown

c.642C>A; p.A214A; 19:45414921-45414921

 breastcarcinomaSubstitution - coding silent

c.837T>A; p.P279P; 19:45413683-45413683

 central_nervous_system; braingliomaSubstitution - coding silent

c.537G>T; p.Q179H; 19:45416886-45416886

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.184G>A; p.E62K; 19:45421315-45421315

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.184G>A; p.E62K; 19:45421315-45421315

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.60G>A; p.K20K; 19:45423315-45423315

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.339G>A; p.L113L; 19:45420410-45420410

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.346G>A; p.V116M; 19:45420403-45420403

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.744G>A; p.T248T; 19:45413993-45413993

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.744G>A; p.T248T; 19:45413993-45413993

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.155C>T; p.S52L; 19:45421344-45421344

 skinmalignant_melanomaSubstitution - Missense

c.287C>T; p.A96V; 19:45421212-45421212

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.48G>A; p.P16P; 19:45423327-45423327

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.532C>T; p.P178S; 19:45416891-45416891

 skinmalignant_melanomaSubstitution - Missense

c.89A>G; p.E30G; 19:45423286-45423286

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.700C>T; p.R234W; 19:45414863-45414863

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.355G>A; p.V119M; 19:45420394-45420394

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myeloproliferative_neoplasmSubstitution - Missense

c.282C>T; p.P94P; 19:45421217-45421217

 ovaryother; neoplasmSubstitution - coding silent

c.282C>T; p.P94P; 19:45421217-45421217

 ovaryother; neoplasmSubstitution - coding silent

c.120C>T; p.F40F; 19:45421379-45421379

 skinmalignant_melanomaSubstitution - coding silent

c.50C>T; p.P17L; 19:45423325-45423325

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.350G>A; p.R117H; 19:45420399-45420399

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.782A>C; p.E261A; 19:45413738-45413738

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.722_723CC>TT; p.T241I; 19:45414014-45414015

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.353A>G; p.N118S; 19:45420396-45420396

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.711A>G; p.E237E; 19:45414026-45414026

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.345C>T; p.F115F; 19:45420404-45420404

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.345C>T; p.F115F; 19:45420404-45420404

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.122G>A; p.R41Q; 19:45421377-45421377

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.465G>A; p.G155G; 19:45419158-45419158

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.239C>G; p.S80*; 19:45421260-45421260

 breastcarcinomaSubstitution - Nonsense