Cancer metastasis database

Annotation category 5

Gene information

Gene ID 2057
Symbol

EPOR

Synonymous

EPO-R

Full name

erythropoietin receptor

Gene description

-

Cytoband

19p13.3-p13.2

Gene type

protein-coding

Synonymous

MIM:133171; HGNC:HGNC:3416; Ensembl:ENSG00000187266; HPRD:00587; Vega:OTTHUMG00000182027

COSMIC somatic mutation

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.189C>T; p.F63F; 19:11383159-11383159

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.975G>C; p.E325D; 19:11378536-11378536

 kidneycarcinoma; renal_cell_carcinomaSubstitution - Missense

c.907A>C; p.N303H; 19:11378699-11378699

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1424G>A; p.G475E; 19:11378087-11378087

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.555G>C; p.S185S; 19:11381722-11381722

 livercarcinomaSubstitution - coding silent

c.555G>C; p.S185S; 19:11381722-11381722

 livercarcinomaSubstitution - coding silent

c.803T>G; p.V268G; 19:11380908-11380908

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.10C>A; p.L4I; 19:11384198-11384198

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.193G>A; p.E65K; 19:11383155-11383155

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1025T>C; p.M342T; 19:11378486-11378486

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.612G>A; p.E204E; 19:11381183-11381183

 pancreascarcinomaSubstitution - coding silent

c.990C>T; p.S330S; 19:11378521-11378521

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1281T>C; p.T427T; 19:11378230-11378230

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1010G>A; p.R337H; 19:11378501-11378501

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1310G>A; p.R437H; 19:11378201-11378201

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1127_1156del30; p.L376_L385del10; 19:11378355-11378384

 ovarycarcinoma; serous_carcinomaDeletion - In frame

c.1409C>T; p.S470L; 19:11378102-11378102

 breastcarcinomaSubstitution - Missense

c.1122G>A; p.W374*; 19:11378389-11378389

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.847T>A; p.W283R; 19:11378759-11378759

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.559G>C; p.G187R; 19:11381718-11381718

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.591G>T; p.E197D; 19:11381204-11381204

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.145G>A; p.E49K; 19:11383203-11383203

 breastcarcinomaSubstitution - Missense

c.982C>T; p.P328S; 19:11378529-11378529

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.303T>C; p.G101G; 19:11382054-11382054

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.911T>C; p.F304S; 19:11378695-11378695

 skinmalignant_melanomaSubstitution - Missense

c.338A>G; p.D113G; 19:11382019-11382019

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1020G>A; p.G340G; 19:11378491-11378491

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.29C>T; p.P10L; 19:11384179-11384179

 skinmalignant_melanomaSubstitution - Missense

c.1397C>T; p.T466I; 19:11378114-11378114

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.313T>C; p.F105L; 19:11382044-11382044

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1198G>T; p.G400C; 19:11378313-11378313

 pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.880G>C; p.E294Q; 19:11378726-11378726

 breastcarcinomaSubstitution - Missense

c.880G>C; p.E294Q; 19:11378726-11378726

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1032A>G; p.A344A; 19:11378479-11378479

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.425T>C; p.V142A; 19:11381932-11381932

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.975G>T; p.E325D; 19:11378536-11378536

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1498C>A; p.L500M; 19:11378013-11378013

 breastcarcinomaSubstitution - Missense