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Gene information | Literature | Expression | lncRNA | Mutation | Homolog

Basic Information

Gene ID

4072

Name

EPCAM

Synonymous

epithelial cell adhesion molecule;EPCAM;epithelial cell adhesion molecule

Definition

adenocarcinoma-associated antigen|cell surface glycoprotein Trop-1|epithelial glycoprotein 314|human epithelial glycoprotein-2|major gastrointestinal tumor-associated protein GA733-2|membrane component, chromosome 4, surface marker (35kD glycoprotein)|tum

Position

2p21

Gene Type

protein-coding

COSMIC confirmed somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.792A>C; p.L264L; 2:47379903-47379903

 biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - coding silent

c.913A>G; p.M305V; 2:47386581-47386581

 central_nervous_system; braingliomaSubstitution - Missense

c.131G>A; p.R44H; 2:47373517-47373517

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.721G>T; p.D241Y; 2:47379832-47379832

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.552T>A; p.I184I; 2:47377074-47377074

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.521A>G; p.Y174C; 2:47377043-47377043

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.184+1G>C; p.?; 2:47373571-47373571

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.353G>T; p.C118F; 2:47373976-47373976

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.219G>T; p.M73I; 2:47373842-47373842

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.605A>C; p.K202T; 2:47379002-47379002

 eye; uveal_tractmalignant_melanoma; spindleSubstitution - Missense

c.900T>C; p.A300A; 2:47385207-47385207

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.848_850delTTG; p.V285delV; 2:47379959-47379961

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - In frame

c.911A>C; p.E304A; 2:47386579-47386579

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.924G>A; p.M308I; 2:47386592-47386592

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.651A>G; p.E217E; 2:47379048-47379048

 livercarcinomaSubstitution - coding silent

c.651A>G; p.E217E; 2:47379048-47379048

 livercarcinomaSubstitution - coding silent

c.197G>A; p.C66Y; 2:47373820-47373820

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.197G>A; p.C66Y; 2:47373820-47373820

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.867C>G; p.S289S; 2:47385174-47385174

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.628G>A; p.A210T; 2:47379025-47379025

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.665G>T; p.G222V; 2:47379776-47379776

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.882G>T; p.M294I; 2:47385189-47385189

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.294C>G; p.D98E; 2:47373917-47373917

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.272A>G; p.N91S; 2:47373895-47373895

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.357G>A; p.V119V; 2:47373980-47373980

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.557A>G; p.Y186C; 2:47378954-47378954

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.180A>C; p.S60S; 2:47373566-47373566

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.788G>T; p.G263V; 2:47379899-47379899

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.454G>A; p.A152T; 2:47375262-47375262

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.561G>A; p.E187E; 2:47378958-47378958

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.344T>C; p.M115T; 2:47373967-47373967

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.344T>C; p.M115T; 2:47373967-47373967

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.679C>T; p.H227Y; 2:47379790-47379790

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.631G>A; p.D211N; 2:47379028-47379028

 skin; armmalignant_melanomaSubstitution - Missense

c.587T>C; p.V196A; 2:47378984-47378984

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.297C>T; p.C99C; 2:47373920-47373920

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.504G>A; p.K168K; 2:47377026-47377026

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.694G>A; p.D232N; 2:47379805-47379805

 skinmalignant_melanomaSubstitution - Missense

c.130C>T; p.R44C; 2:47373516-47373516

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.130C>T; p.R44C; 2:47373516-47373516

 skinmalignant_melanomaSubstitution - Missense

c.805A>G; p.I269V; 2:47379916-47379916

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.515C>T; p.T172M; 2:47377037-47377037

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.11C>T; p.P4L; 2:47369516-47369516

 thyroidcarcinomaSubstitution - Missense

c.560A>G; p.E187G; 2:47378957-47378957

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.560A>G; p.E187G; 2:47378957-47378957

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense