| 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 E1-E2-1-2|estrogen receptor alpha E1-N2-E2-1-2|estrogen receptor alpha delta 3*,4,5,6,7*,8*/941 isoform|e |
Position | 6q25.1 |
Gene Type | protein-coding |
Gene Mutation: | GWAS results PAH samples Lung cancer |
GWAS results [Top] | ||
There is no record for ESR1 | ||
Lung cancer [Top] | ||
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
p.M490I; chr6:152415620-152415620 |
lung | adenocarcinoma; carcinoma |
p.P82H; chr6:152129292-152129292 |
lung | squamous_cell_carcinoma; carcinoma |
p.H196R; chr6:152163866-152163866 |
lung | squamous_cell_carcinoma; carcinoma |
p.A551E; chr6:152419965-152419965 |
lung | adenocarcinoma; carcinoma |
p.G40V; chr6:152129166-152129166 |
lung | squamous_cell_carcinoma; carcinoma |
p.G276G; chr6:152265375-152265375 |
lung | adenocarcinoma; carcinoma |
p.G276G; chr6:152265375-152265375 |
lung | adenocarcinoma; carcinoma |
p.K171I; chr6:152163791-152163792 |
lung | squamous_cell_carcinoma; carcinoma |
p.K171M; chr6:152163791-152163791 |
lung | squamous_cell_carcinoma; carcinoma |
p.H373N; chr6:152332811-152332811 |
lung | squamous_cell_carcinoma; carcinoma |
p.H488Y; chr6:152415611-152415612 |
lung | squamous_cell_carcinoma; carcinoma |
p.I487I; chr6:152415611-152415611 |
lung | squamous_cell_carcinoma; carcinoma |
p.P295P; chr6:152265432-152265432 |
lung | squamous_cell_carcinoma; carcinoma |
p.P29Q; chr6:152129133-152129133 |
lung | adenocarcinoma; carcinoma |
p.A571A; chr6:152420026-152420026 |
lung | adenocarcinoma; carcinoma |
p.?; chr6:152382262-152382262 |
lung | adenocarcinoma; carcinoma |
p.?; chr6:152265298-152265298 |
lung | squamous_cell_carcinoma; carcinoma |
p.K171K; chr6:152163792-152163792 |
lung | squamous_cell_carcinoma; carcinoma |
p.M1V; chr6:152129048-152129048 |
lung | small_cell_carcinoma; carcinoma |
p.H488Y; chr6:152415612-152415612 |
lung | squamous_cell_carcinoma; carcinoma |
p.K268Q; chr6:152265349-152265349 |
lung | adenocarcinoma; carcinoma |
p.I514I; chr6:152415692-152415692 |
lung | squamous_cell_carcinoma; carcinoma |
p.G172*; chr6:152163793-152163793 |
lung | adenocarcinoma; carcinoma |