Entrez Gene

Basic Information
Gene ID	2115
Name	ETV1
Synonymous	ets variant 1;ETV1;ets variant 1
Definition	ETS translocation variant 1\|ets variant gene 1\|ets-related protein 81
Position	7p21.3
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC confirmed somatic mutation [Top]

c.488G>A; p.R163Q; 7:13935774-13935774	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.468T>G; p.T156T; 7:13935794-13935794	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.531T>C; p.D177D; 7:13935731-13935731	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.559C>T; p.R187C; 7:13931745-13931745	breast	carcinoma	Substitution - Missense
c.341G>C; p.G114A; 7:13939141-13939141	breast	carcinoma	Substitution - Missense
c.1172G>T; p.R391L; 7:13900778-13900778	breast	carcinoma	Substitution - Missense
c.1105G>C; p.E369Q; 7:13906435-13906435	breast	carcinoma	Substitution - Missense
c.1198G>A; p.G400R; 7:13900752-13900752	breast	carcinoma	Substitution - Missense
c.924C>A; p.V308V; 7:13909648-13909648	breast	carcinoma	Substitution - coding silent
c.666C>G; p.F222L; 7:13931638-13931638	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.559C>T; p.R187C; 7:13931745-13931745	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.288T>G; p.C96W; 7:13939194-13939194	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.936C>T; p.F312F; 7:13909636-13909636	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.936C>T; p.F312F; 7:13909636-13909636	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.936C>T; p.F312F; 7:13909636-13909636	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1075C>T; p.R359*; 7:13906465-13906465	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.72G>T; p.E24D; 7:13988147-13988147	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.29C>T; p.P10L; 7:13989024-13989024	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1346C>A; p.P449H; 7:13895954-13895954	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.555-1G>T; p.?; 7:13931750-13931750	endometrium	carcinoma; serous_carcinoma	Unknown
c.920T>A; p.V307D; 7:13909652-13909652	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.734C>T; p.A245V; 7:13931570-13931570	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.372T>A; p.Y124*; 7:13935890-13935890	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.145G>T; p.D49Y; 7:13986674-13986674	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.605C>T; p.T202M; 7:13931699-13931699	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.746G>A; p.S249N; 7:13931558-13931558	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.584A>G; p.N195S; 7:13931720-13931720	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.1111-6C>T; p.?; 7:13900845-13900845	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; polycythaemia_vera	Unknown
c.710A>G; p.E237G; 7:13931594-13931594	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1267T>C; p.S423P; 7:13896033-13896033	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.298A>G; p.S100G; 7:13939184-13939184	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.693C>G; p.Y231*; 7:13931611-13931611	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Nonsense
c.606G>C; p.T202T; 7:13931698-13931698	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.437C>T; p.S146F; 7:13935825-13935825	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.620G>T; p.G207V; 7:13931684-13931684	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.236-5delT; p.?; 7:13939251-13939251	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.559C>T; p.R187C; 7:13931745-13931745	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.637C>T; p.R213C; 7:13931667-13931667	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.235+1G>A; p.?; 7:13977426-13977426	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.623G>A; p.R208H; 7:13931681-13931681	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.388G>A; p.V130M; 7:13935874-13935874	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.429G>A; p.T143T; 7:13935833-13935833	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.560G>A; p.R187H; 7:13931744-13931744	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.560G>A; p.R187H; 7:13931744-13931744	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.241T>G; p.F81V; 7:13939241-13939241	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.399G>A; p.R133R; 7:13935863-13935863	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.414delC; p.T139fs*116; 7:13935848-13935848	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.414delC; p.T139fs*116; 7:13935848-13935848	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.414delC; p.T139fs*116; 7:13935848-13935848	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.414delC; p.T139fs*116; 7:13935848-13935848	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.412C>T; p.P138S; 7:13935850-13935850	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.414delC; p.T139fs*116; 7:13935848-13935848	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.392G>T; p.G131V; 7:13935870-13935870	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.784G>T; p.D262Y; 7:13931520-13931520	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1265delT; p.F422fs*13; 7:13896035-13896035	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.411C>G; p.P137P; 7:13935851-13935851	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.201T>C; p.D67D; 7:13977461-13977461	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.201T>C; p.D67D; 7:13977461-13977461	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.985T>C; p.Y329H; 7:13906555-13906555	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.235+2T>C; p.?; 7:13977425-13977425	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.360T>C; p.N120N; 7:13939122-13939122	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.414_415insC; p.T139fs*24; 7:13935847-13935848	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.59G>T; p.R20I; 7:13988160-13988160	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.414_415insC; p.T139fs*24; 7:13935847-13935848	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.414_415insC; p.T139fs*24; 7:13935847-13935848	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.526C>T; p.P176S; 7:13935736-13935736	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1148C>T; p.A383V; 7:13900802-13900802	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.665T>C; p.F222S; 7:13931639-13931639	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.665T>C; p.F222S; 7:13931639-13931639	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.665T>C; p.F222S; 7:13931639-13931639	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1194G>A; p.E398E; 7:13900756-13900756	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.414C>G; p.P138P; 7:13935848-13935848	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.994C>T; p.R332*; 7:13906546-13906546	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.298A>G; p.S100G; 7:13939184-13939184	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1372G>A; p.A458T; 7:13895928-13895928	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.516G>A; p.S172S; 7:13935746-13935746	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.937G>A; p.D313N; 7:13909635-13909635	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1157A>G; p.Y386C; 7:13900793-13900793	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.270A>G; p.K90K; 7:13939212-13939212	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.97A>C; p.K33Q; 7:13988122-13988122	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.696C>T; p.H232H; 7:13931608-13931608	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.305C>T; p.A102V; 7:13939177-13939177	liver	carcinoma	Substitution - Missense
c.384A>G; p.P128P; 7:13935878-13935878	liver	carcinoma	Substitution - coding silent
c.384A>G; p.P128P; 7:13935878-13935878	liver	carcinoma	Substitution - coding silent
c.1118G>A; p.R373Q; 7:13900832-13900832	liver	carcinoma	Substitution - Missense
c.1118G>A; p.R373Q; 7:13900832-13900832	liver	carcinoma	Substitution - Missense
c.638G>T; p.R213L; 7:13931666-13931666	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.422C>A; p.S141Y; 7:13935840-13935840	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.760C>T; p.L254L; 7:13931544-13931544	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1235A>G; p.Y412C; 7:13896065-13896065	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.859A>T; p.S287C; 7:13911251-13911251	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.517C>T; p.Q173*; 7:13935745-13935745	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.235T>A; p.L79M; 7:13977427-13977427	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.615G>A; p.R205R; 7:13931689-13931689	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.399G>T; p.R133S; 7:13935863-13935863	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.695A>T; p.H232L; 7:13931609-13931609	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1079G>T; p.G360V; 7:13906461-13906461	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.821C>T; p.S274F; 7:13911289-13911289	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.924C>G; p.V308V; 7:13909648-13909648	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.887A>G; p.K296R; 7:13909685-13909685	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.624T>C; p.R208R; 7:13931680-13931680	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1182C>A; p.R394R; 7:13900768-13900768	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1078G>T; p.G360C; 7:13906462-13906462	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.696C>T; p.H232H; 7:13931608-13931608	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.298A>G; p.S100G; 7:13939184-13939184	meninges	meningioma; secretory	Substitution - Missense
c.348G>T; p.K116N; 7:13939134-13939134	oesophagus	carcinoma	Substitution - Missense
c.587C>G; p.S196C; 7:13931717-13931717	oesophagus	carcinoma	Substitution - Missense
c.1383G>A; p.P461P; 7:13895917-13895917	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.740G>T; p.S247I; 7:13931564-13931564	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.692A>T; p.Y231F; 7:13931612-13931612	oesophagus	carcinoma	Substitution - Missense
c.796G>C; p.D266H; 7:13931508-13931508	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1388G>C; p.G463A; 7:13895912-13895912	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1426G>A; p.V476M; 7:13895874-13895874	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.700C>T; p.P234S; 7:13931604-13931604	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1426G>A; p.V476M; 7:13895874-13895874	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1424A>G; p.Y475C; 7:13895876-13895876	pancreas	carcinoma	Substitution - Missense
c.1171C>T; p.R391C; 7:13900779-13900779	pancreas	carcinoma	Substitution - Missense
c.1171C>T; p.R391C; 7:13900779-13900779	pancreas	carcinoma	Substitution - Missense
c.1294C>T; p.P432S; 7:13896006-13896006	skin	malignant_melanoma	Substitution - Missense
c.546_547GG>AA; p.M182_D183>IN; 7:13935715-13935716	skin; head_neck	carcinoma; squamous_cell_carcinoma	Complex - compound substitution
c.543delC; p.M182fs*73; 7:13935719-13935719	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.574G>A; p.E192K; 7:13931730-13931730	skin	malignant_melanoma	Substitution - Missense
c.1417G>A; p.E473K; 7:13895883-13895883	skin	malignant_melanoma	Substitution - Missense
c.1417G>A; p.E473K; 7:13895883-13895883	skin; extremity	malignant_melanoma	Substitution - Missense
c.936C>T; p.F312F; 7:13909636-13909636	skin	malignant_melanoma	Substitution - coding silent
c.936C>T; p.F312F; 7:13909636-13909636	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.595C>T; p.P199S; 7:13931709-13931709	skin	malignant_melanoma	Substitution - Missense
c.595C>T; p.P199S; 7:13931709-13931709	skin	malignant_melanoma	Substitution - Missense
c.247G>A; p.G83S; 7:13939235-13939235	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.694C>T; p.H232Y; 7:13931610-13931610	skin	malignant_melanoma	Substitution - Missense
c.1073G>A; p.G358D; 7:13906467-13906467	skin	malignant_melanoma	Substitution - Missense
c.1384G>A; p.E462K; 7:13895916-13895916	skin	malignant_melanoma	Substitution - Missense
c.1260C>T; p.A420A; 7:13896040-13896040	skin	malignant_melanoma	Substitution - coding silent
c.511C>T; p.P171S; 7:13935751-13935751	skin	malignant_melanoma	Substitution - Missense
c.868G>A; p.E290K; 7:13911242-13911242	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.181G>A; p.A61T; 7:13986638-13986638	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.519G>A; p.Q173Q; 7:13935743-13935743	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.486C>T; p.D162D; 7:13935776-13935776	skin	malignant_melanoma	Substitution - coding silent
c.115C>A; p.L39M; 7:13988104-13988104	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.639C>G; p.R213R; 7:13931665-13931665	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1282G>C; p.D428H; 7:13896018-13896018	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.559C>T; p.R187C; 7:13931745-13931745	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.637C>T; p.R213C; 7:13931667-13931667	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.771A>C; p.K257N; 7:13931533-13931533	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.588C>A; p.S196S; 7:13931716-13931716	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.963A>C; p.G321G; 7:13906577-13906577	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.851C>A; p.A284D; 7:13911259-13911259	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.913A>C; p.T305P; 7:13909659-13909659	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1421G>T; p.G474V; 7:13895879-13895879	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.638G>A; p.R213H; 7:13931666-13931666	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.154C>T; p.Q52*; 7:13986665-13986665	thyroid	other; neoplasm	Substitution - Nonsense
c.661C>G; p.P221A; 7:13931643-13931643	thyroid	carcinoma	Substitution - Missense
c.1415A>G; p.N472S; 7:13895885-13895885	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.102C>G; p.F34L; 7:13988117-13988117	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.992G>C; p.R331P; 7:13906548-13906548	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.625C>G; p.P209A; 7:13931679-13931679	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1296A>G; p.P432P; 7:13896004-13896004	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.154C>G; p.Q52E; 7:13986665-13986665	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.574G>C; p.E192Q; 7:13931730-13931730	urinary_tract; bladder	carcinoma	Substitution - Missense
c.163G>C; p.E55Q; 7:13986656-13986656	urinary_tract; bladder	carcinoma	Substitution - Missense
c.511C>G; p.P171A; 7:13935751-13935751	urinary_tract; bladder	carcinoma	Substitution - Missense

Oncogene database

COSMIC confirmed somatic mutation [Top]

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