Cancer metastasis database

Annotation category 5

Gene information

Gene ID 10849
Symbol

CD3EAP

Synonymous

ASE-1|ASE1|CAST|PAF49

Full name

CD3e molecule, epsilon associated protein

Gene description

CD3e antigen, epsilon polypeptide associated protein|DNA-directed RNA polymerase I subunit RPA34|RNA polymerase I-associated factor PAF49|antisense to ERCC-1 protein

Cytoband

19q13.3

Gene type

protein-coding

Synonymous

MIM:107325; HGNC:HGNC:24219; Ensembl:ENSG00000117877; HPRD:00125; Vega:OTTHUMG00000182120

COSMIC somatic mutation

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.1322T>C; p.L441P; 19:45409290-45409290

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.38C>T; p.S13F; 19:45407109-45407109

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.391C>T; p.Q131*; 19:45408359-45408359

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.547G>A; p.E183K; 19:45408515-45408515

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.172G>A; p.G58R; 19:45408140-45408140

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.776A>C; p.K259T; 19:45408744-45408744

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.82C>T; p.P28S; 19:45407153-45407153

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.911G>T; p.G304V; 19:45408879-45408879

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.653_654insA; p.N218fs*58; 19:45408621-45408622

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.653_654insA; p.N218fs*58; 19:45408621-45408622

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.786C>T; p.F262F; 19:45408754-45408754

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.786C>T; p.F262F; 19:45408754-45408754

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.582C>T; p.H194H; 19:45408550-45408550

 prostatecarcinomaSubstitution - coding silent

c.97G>A; p.E33K; 19:45407168-45407168

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1361G>T; p.R454M; 19:45409329-45409329

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.896T>A; p.M299K; 19:45408864-45408864

 large_intestine; coloncarcinomaSubstitution - Missense

c.1287G>C; p.E429D; 19:45409255-45409255

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.860_861CC>TT; p.T287I; 19:45408828-45408829

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.673G>A; p.E225K; 19:45408641-45408641

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.305G>A; p.G102E; 19:45408273-45408273

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1177C>T; p.Q393*; 19:45409145-45409145

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1285G>C; p.E429Q; 19:45409253-45409253

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.633_635delGAA; p.K217delK; 19:45408601-45408603

 skinmalignant_melanomaDeletion - In frame

c.336G>T; p.Q112H; 19:45408304-45408304

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.633_635delGAA; p.K217delK; 19:45408601-45408603

 skinmalignant_melanomaDeletion - In frame

c.98A>G; p.E33G; 19:45407169-45407169

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.38C>G; p.S13C; 19:45407109-45407109

 breastcarcinoma; HER-positive_carcinomaSubstitution - Missense

c.528A>G; p.K176K; 19:45408496-45408496

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.528A>G; p.K176K; 19:45408496-45408496

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1411C>T; p.R471W; 19:45409379-45409379

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1108G>A; p.E370K; 19:45409076-45409076

 breastcarcinomaSubstitution - Missense

c.478G>T; p.G160W; 19:45408446-45408446

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.954G>A; p.L318L; 19:45408922-45408922

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.956A>G; p.E319G; 19:45408924-45408924

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.980C>T; p.T327M; 19:45408948-45408948

 pancreascarcinomaSubstitution - Missense

c.1160C>T; p.T387M; 19:45409128-45409128

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.912G>A; p.G304G; 19:45408880-45408880

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1095G>A; p.A365A; 19:45409063-45409063

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1278G>C; p.K426N; 19:45409246-45409246

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1117A>G; p.K373E; 19:45409085-45409085

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1117A>G; p.K373E; 19:45409085-45409085

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1117A>G; p.K373E; 19:45409085-45409085

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.1528G>A; p.V510M; 19:45409496-45409496

 oesophaguscarcinomaSubstitution - Missense

c.1031C>T; p.T344M; 19:45408999-45408999

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.646delA; p.N218fs*4; 19:45408614-45408614

 large_intestine; rectumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1452G>A; p.P484P; 19:45409420-45409420

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1207G>A; p.V403M; 19:45409175-45409175

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.43C>T; p.P15S; 19:45407114-45407114

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1492C>T; p.R498W; 19:45409460-45409460

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.614C>T; p.S205L; 19:45408582-45408582

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.119C>G; p.T40R; 19:45407190-45407190

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1264_1266delAAG; p.K428delK; 19:45409232-45409234

 kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - In frame

c.1264_1266delAAG; p.K428delK; 19:45409232-45409234

 breastcarcinomaDeletion - In frame

c.695C>T; p.T232I; 19:45408663-45408663

 livercarcinomaSubstitution - Missense

c.1300G>A; p.V434M; 19:45409268-45409268

 pancreascarcinomaSubstitution - Missense

c.1386G>A; p.K462K; 19:45409354-45409354

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.297G>A; p.T99T; 19:45408265-45408265

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.741G>A; p.P247P; 19:45408709-45408709

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent