| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 2099 |
Name | ESR1 |
Synonymous | ER|ESR|ESRA|Era|NR3A1;estrogen receptor 1;ESR1;estrogen receptor 1 |
Definition | ER-alpha|estradiol receptor|estrogen nuclear receptor alpha|estrogen receptor|estrogen receptor alpha 3*,4,5,6,7*/822 isoform|estrogen receptor alpha delta 3*,4,5,6,7*,8*/941 isoform|estrogen receptor alpha delta 3*,4,5,6,7*/819-2 isoform|estrogen recepto |
Position | 6q25.1 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for ESR1 | ||
PCGP somatic mutation [Top] | ||
There is no record for ESR1 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1613A>G; p.D538G; |
breast | carcinoma; ER-PR-positive_carcinoma |
c.1465C>G; p.L489V; |
ovary | other; neoplasm |
c.1A>G; p.M1V; |
lung | carcinoma; small_cell_carcinoma |
c.172G>A; p.A58T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1471G>A; p.A491T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.632G>T; p.R211I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.643G>T; p.G215*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1470G>C; p.M490I; |
lung | carcinoma; adenocarcinoma |
c.1022C>T; p.S341L; 6:152307262-152307262 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.981C>G; p.L327L; |
oesophagus | carcinoma; adenocarcinoma |
c.411C>A; p.S137R; |
oesophagus | carcinoma; adenocarcinoma |
c.349C>T; p.L117L; |
liver | carcinoma; hepatocellular_carcinoma |
c.514G>T; p.G172*; |
lung | carcinoma; adenocarcinoma |
c.802A>C; p.K268Q; |
lung | carcinoma; adenocarcinoma |
c.86C>A; p.P29Q; |
lung | carcinoma; adenocarcinoma |
c.1713G>A; p.A571A; |
lung | carcinoma; adenocarcinoma |
c.1733C>A; p.S578Y; |
skin; trunk | malignant_melanoma |
c.1653G>A; p.A551A; |
autonomic_ganglia | neuroblastoma |
c.1688C>T; p.T563M; |
pancreas | carcinoma; ductal_carcinoma |
c.1688C>T; p.T563M; |
NS | NS |
c.987C>T; p.S329S; |
prostate | carcinoma |
c.472C>T; p.R158C; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.472C>T; p.R158C; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.288T>G; p.G96G; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.16C>T; p.H6Y; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.936C>T; p.A312A; 6:152307176-152307176 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.936C>T; p.A312A; 6:152307176-152307176 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.703A>T; p.K235*; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.288T>G; p.G96G; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1462C>T; p.H488Y; |
lung | carcinoma; squamous_cell_carcinoma |
c.1461C>T; p.I487I; |
lung | carcinoma; squamous_cell_carcinoma |
c.885G>T; p.P295P; |
lung | carcinoma; squamous_cell_carcinoma |
c.1542C>A; p.I514I; |
lung | carcinoma; squamous_cell_carcinoma |
c.1652C>A; p.A551E; |
lung | carcinoma; adenocarcinoma |
c.119G>T; p.G40V; |
lung | carcinoma; squamous_cell_carcinoma |
c.1117C>A; p.H373N; |
lung | carcinoma; squamous_cell_carcinoma |
c.1006C>A; p.P336T; |
ovary | carcinoma; serous_carcinoma |
c.828C>A; p.G276G; |
lung | carcinoma; adenocarcinoma |
c.1369G>T; p.G457*; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.513G>A; p.K171K; |
lung | carcinoma; squamous_cell_carcinoma |
c.512A>T; p.K171M; |
lung | carcinoma; squamous_cell_carcinoma |
c.60G>C; p.G20G; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.587A>G; p.H196R; |
lung | carcinoma; squamous_cell_carcinoma |
c.1174G>A; p.V392I; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1622T>A; p.L541Q; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.832G>T; p.G278C; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.6C>A; p.T2T; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1610A>G; p.Y537C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1262_1264delTGG; p.V422delV; |
endometrium | carcinoma; endometrioid_carcinoma |
c.240delC; p.Y80fs*1; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.885G>A; p.P295P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.776G>A; p.R259Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.202G>A; p.A68T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.932C>T; p.T311M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.681C>A; p.C227*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.154T>C; p.Y52H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1217C>A; p.P406H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1556A>G; p.N519S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.469C>T; p.R157*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.767G>A; p.R256Q; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.25G>A; p.A9T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.739G>A; p.E247K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1329G>T; p.E443D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1754C>T; p.T585M; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.987C>A; p.S329S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.739G>A; p.E247K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1248A>C; p.K416N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1023G>A; p.S341S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1320G>A; p.L440L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1609T>A; p.Y537N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1643G>A; p.R548H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1054A>C; p.R352R; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1243_1251delGGAAAATGT; p.G415_C417delGKC; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1597G>A; p.V533M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.652G>A; p.D218N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1610A>C; p.Y537S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1350_1355delTATTAT; p.I451_I452delII; |
breast | carcinoma |
c.1613A>G; p.D538G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.664C>T; p.P222S; |
breast | carcinoma |
c.571T>C; p.Y191H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.857T>C; p.M286T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1635C>T; p.D545D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1284G>T; p.L428L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.792G>T; p.M264I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.919G>T; p.A307S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1664G>A; p.R555H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1344C>G; p.L448L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1116C>G; p.L372L; |
cervix | carcinoma; squamous_cell_carcinoma |
c.81_84delCCGT; p.P29fs*79; |
breast | carcinoma |
c.568G>A; p.D190N; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.935C>T; p.A312V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1022C>A; p.S341*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.871C>A; p.L291I; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1597G>A; p.V533M; |
prostate | carcinoma |