Entrez Gene

Basic Information
Gene ID	2099
Name	ESR1
Synonymous	estrogen receptor 1;ESR1;estrogen receptor 1
Definition	ER-alpha\|estradiol receptor\|estrogen nuclear receptor alpha\|estrogen receptor\|estrogen receptor alpha E1-E2-1-2\|estrogen receptor alpha E1-N2-E2-1-2\|nuclear receptor subfamily 3 group A member 1
Position	6q25.1
Gene Type	protein-coding
Mutation summary:	Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72

Mutation summary in protein domains

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Loss of Function mutations compare to missense mutations

Top

The ratio of the loss-of-function mutations over missense mutations is 0.15.

The copy number variations for various cancers

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.513G>A; p.K171K; 6:151842657-151842657	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.172G>A; p.A58T; 6:151808084-151808084	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1357T>G; p.L453V; 6:152061112-152061112	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.92T>C; p.L31P; 6:151808004-151808004	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1643G>A; p.R548H; 6:152098821-152098821	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.587A>G; p.H196R; 6:151842731-151842731	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1724C>T; p.S575L; 6:152098902-152098902	skin	malignant_melanoma	Substitution - Missense
c.473G>A; p.R158H; 6:151842617-151842617	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1054A>C; p.R352R; 6:151944466-151944466	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.30T>C; p.S10S; 6:151807942-151807942	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.30T>C; p.S10S; 6:151807942-151807942	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.640C>T; p.Q214*; 6:151842784-151842784	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.738C>T; p.Y246Y; 6:151880749-151880749	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.738C>T; p.Y246Y; 6:151880749-151880749	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1664G>A; p.R555H; 6:152098842-152098842	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1652C>A; p.A551E; 6:152098830-152098830	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1269G>T; p.E423D; 6:152061024-152061024	liver	carcinoma	Substitution - Missense
c.1269G>T; p.E423D; 6:152061024-152061024	liver	carcinoma	Substitution - Missense
c.871C>A; p.L291I; 6:151944283-151944283	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.767G>A; p.R256Q; 6:151944179-151944179	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1556A>G; p.N519S; 6:152098734-152098734	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1369G>T; p.G457*; 6:152061124-152061124	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.936C>T; p.A312A; 6:151944348-151944348	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.659T>C; p.M220T; 6:151880670-151880670	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.936C>T; p.A312A; 6:151944348-151944348	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1636G>A; p.A546T; 6:152098814-152098814	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.981C>G; p.L327L; 6:151944393-151944393	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1A>G; p.M1V; 6:151807913-151807913	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.469C>T; p.R157*; 6:151842613-151842613	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.935C>T; p.A312V; 6:151944347-151944347	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1138G>C; p.E380Q; 6:152011697-152011697	breast	carcinoma	Substitution - Missense
c.664C>T; p.P222S; 6:151880675-151880675	breast	carcinoma	Substitution - Missense
c.25G>A; p.A9T; 6:151807937-151807937	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1688C>T; p.T563M; 6:152098866-152098866	pancreas	carcinoma	Substitution - Missense
c.1688C>T; p.T563M; 6:152098866-152098866	pancreas	carcinoma	Substitution - Missense
c.1688C>T; p.T563M; 6:152098866-152098866	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.826G>A; p.G276S; 6:151944238-151944238	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1781C>T; p.T594M; 6:152098959-152098959	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.739G>A; p.E247K; 6:151880750-151880750	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.739G>A; p.E247K; 6:151880750-151880750	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.739G>A; p.E247K; 6:151880750-151880750	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.739G>A; p.E247K; 6:151880750-151880750	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.739G>A; p.E247K; 6:151880750-151880750	skin	malignant_melanoma	Substitution - Missense
c.739G>A; p.E247K; 6:151880750-151880750	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.261G>C; p.A87A; 6:151808173-151808173	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.727C>T; p.R243C; 6:151880738-151880738	skin	malignant_melanoma	Substitution - Missense
c.261G>C; p.A87A; 6:151808173-151808173	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.650A>G; p.N217S; 6:151880661-151880661	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.496G>T; p.A166S; 6:151842640-151842640	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.496G>T; p.A166S; 6:151842640-151842640	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1243_1251delGGAAAATGT; p.G415_C417delGKC; 6:152060998-152061006	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1567G>C; p.E523Q; 6:152098745-152098745	breast	carcinoma	Substitution - Missense
c.1465C>G; p.L489V; 6:152094480-152094480	ovary	other; neoplasm	Substitution - Missense
c.276C>T; p.N92N; 6:151808188-151808188	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1613A>G; p.D538G; 6:152098791-152098791	breast	carcinoma; ER-PR-positive_carcinoma	Substitution - Missense
c.1613A>G; p.D538G; 6:152098791-152098791	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1470G>C; p.M490I; 6:152094485-152094485	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1610A>C; p.Y537S; 6:152098788-152098788	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.671C>A; p.T224N; 6:151880682-151880682	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1713G>A; p.A571A; 6:152098891-152098891	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.703A>T; p.K235*; 6:151880714-151880714	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.81_84delCCGT; p.P29fs*79; 6:151807993-151807996	breast	carcinoma	Deletion - Frameshift
c.720C>T; p.C240C; 6:151880731-151880731	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.857T>C; p.M286T; 6:151944269-151944269	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.719G>A; p.C240Y; 6:151880730-151880730	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.16C>T; p.H6Y; 6:151807928-151807928	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.932C>T; p.T311M; 6:151944344-151944344	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.885G>A; p.P295P; 6:151944297-151944297	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.885G>A; p.P295P; 6:151944297-151944297	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.932C>T; p.T311M; 6:151944344-151944344	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.597C>T; p.V199V; 6:151842741-151842741	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.885G>T; p.P295P; 6:151944297-151944297	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1782G>A; p.T594T; 6:152098960-152098960	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1782G>A; p.T594T; 6:152098960-152098960	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.154T>C; p.Y52H; 6:151808066-151808066	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1653G>A; p.A551A; 6:152098831-152098831	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.1248A>C; p.K416N; 6:152061003-152061003	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.148G>A; p.A50T; 6:151808060-151808060	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1429C>T; p.R477*; 6:152094444-152094444	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1471G>A; p.A491T; 6:152094486-152094486	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.987C>T; p.S329S; 6:151944399-151944399	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.288T>G; p.G96G; 6:151808200-151808200	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.987C>T; p.S329S; 6:151944399-151944399	prostate	carcinoma	Substitution - coding silent
c.288T>G; p.G96G; 6:151808200-151808200	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1542C>A; p.I514I; 6:152094557-152094557	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1622T>A; p.L541Q; 6:152098800-152098800	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.60G>C; p.G20G; 6:151807972-151807972	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1284G>T; p.L428L; 6:152061039-152061039	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.514G>T; p.G172*; 6:151842658-151842658	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1060C>A; p.L354M; 6:151944472-151944472	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1609T>A; p.Y537N; 6:152098787-152098787	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1023G>A; p.S341S; 6:151944435-151944435	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.987C>A; p.S329S; 6:151944399-151944399	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1022C>A; p.S341*; 6:151944434-151944434	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1753A>T; p.T585S; 6:152098931-152098931	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.747A>G; p.G249G; 6:151880758-151880758	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.827G>A; p.G276D; 6:151944239-151944239	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1243G>A; p.G415R; 6:152060998-152060998	skin	malignant_melanoma	Substitution - Missense
c.349C>T; p.L117L; 6:151808261-151808261	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.1006C>A; p.P336T; 6:151944418-151944418	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.828C>A; p.G276G; 6:151944240-151944240	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1217C>A; p.P406H; 6:152011776-152011776	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1320G>A; p.L440L; 6:152061075-152061075	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.512A>T; p.K171M; 6:151842656-151842656	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1332G>A; p.E444E; 6:152061087-152061087	pancreas	carcinoma	Substitution - coding silent
c.652G>A; p.D218N; 6:151880663-151880663	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1350_1355delTATTAT; p.I451_I452delII; 6:152061105-152061110	breast	carcinoma	Deletion - In frame
c.1127T>C; p.V376A; 6:152011686-152011686	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1394C>A; p.T465N; 6:152094409-152094409	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1573C>T; p.L525L; 6:152098751-152098751	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1174G>A; p.V392I; 6:152011733-152011733	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1174G>A; p.V392I; 6:152011733-152011733	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.975G>C; p.P325P; 6:151944387-151944387	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1211T>G; p.F404C; 6:152011770-152011770	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.995A>T; p.D332V; 6:151944407-151944407	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.453-1G>T; p.?; 6:151842596-151842596	large_intestine; rectum	carcinoma; adenocarcinoma	Unknown
c.119G>T; p.G40V; 6:151808031-151808031	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.86C>A; p.P29Q; 6:151807998-151807998	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.37G>A; p.A13T; 6:151807949-151807949	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1489C>T; p.L497L; 6:152094504-152094504	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1462C>T; p.H488Y; 6:152094477-152094477	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1733C>A; p.S578Y; 6:152098911-152098911	skin; trunk	malignant_melanoma	Substitution - Missense
c.6C>A; p.T2T; 6:151807918-151807918	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.571T>C; p.Y191H; 6:151842715-151842715	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.802A>C; p.K268Q; 6:151944214-151944214	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.681C>A; p.C227*; 6:151880692-151880692	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.832G>T; p.G278C; 6:151944244-151944244	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.472C>T; p.R158C; 6:151842616-151842616	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.472C>T; p.R158C; 6:151842616-151842616	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.472C>T; p.R158C; 6:151842616-151842616	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1344C>G; p.L448L; 6:152061099-152061099	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1344C>G; p.L448L; 6:152061099-152061099	breast	carcinoma	Substitution - coding silent
c.822G>A; p.G274G; 6:151944234-151944234	breast	carcinoma	Substitution - coding silent
c.1635C>T; p.D545D; 6:152098813-152098813	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1262_1264delTGG; p.V422delV; 6:152061017-152061019	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1022C>T; p.S341L; 6:151944434-151944434	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.919G>T; p.A307S; 6:151944331-151944331	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.54C>T; p.I18I; 6:151807966-151807966	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1778C>A; p.A593D; 6:152098956-152098956	breast	carcinoma	Substitution - Missense
c.1754C>T; p.T585M; 6:152098932-152098932	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1461C>T; p.I487I; 6:152094476-152094476	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.632G>T; p.R211I; 6:151842776-151842776	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.544A>G; p.T182A; 6:151842688-151842688	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.568G>A; p.D190N; 6:151842712-151842712	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.544A>G; p.T182A; 6:151842688-151842688	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.345G>A; p.P115P; 6:151808257-151808257	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.643G>T; p.G215*; 6:151842787-151842787	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1116C>G; p.L372L; 6:152011675-152011675	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.29C>G; p.S10C; 6:151807941-151807941	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.202G>A; p.A68T; 6:151808114-151808114	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.776G>A; p.R259Q; 6:151944188-151944188	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1117C>A; p.H373N; 6:152011676-152011676	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1597G>A; p.V533M; 6:152098775-152098775	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1652C>T; p.A551V; 6:152098830-152098830	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1597G>A; p.V533M; 6:152098775-152098775	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1652C>T; p.A551V; 6:152098830-152098830	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1597G>A; p.V533M; 6:152098775-152098775	prostate	carcinoma	Substitution - Missense
c.1329G>T; p.E443D; 6:152061084-152061084	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1148G>A; p.W383*; 6:152011707-152011707	thyroid	carcinoma	Substitution - Nonsense
c.342G>A; p.P114P; 6:151808254-151808254	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1300C>T; p.R434W; 6:152061055-152061055	skin	malignant_melanoma	Substitution - Missense
c.1300C>T; p.R434W; 6:152061055-152061055	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1610A>G; p.Y537C; 6:152098788-152098788	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.411C>A; p.S137R; 6:151808323-151808323	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.726C>T; p.L242L; 6:151880737-151880737	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.792G>T; p.M264I; 6:151944204-151944204	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1388C>T; p.S463F; 6:152094403-152094403	skin	malignant_melanoma	Substitution - Missense
c.240delC; p.Y80fs*1; 6:151808152-151808152	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift

Mutation summary in protein domains

Top

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Top

Loss of Function mutations compare to missense mutations

Top

The copy number variations for various cancers

Top

COSMIC somatic mutation [Top]