Entrez Gene

Basic Information
Gene ID	2119
Name	ETV5
Synonymous	ets variant 5;ETV5;ets variant 5
Definition	ETS translocation variant 5\|ets-related molecule\|ets-related protein ERM
Position	3q28
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1177G>T; p.G393C; 3:186057107-186057107	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.419C>T; p.P140L; 3:186080048-186080048	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.536A>C; p.H179P; 3:186079931-186079931	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1277_1278delTC; p.L426fs*5; 3:186052063-186052064	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1344C>A; p.V448V; 3:186048828-186048828	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1280G>A; p.R427H; 3:186052061-186052061	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1226G>T; p.G409V; 3:186052115-186052115	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.53G>A; p.R18Q; 3:186105705-186105705	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1358_1359CC>TT; p.A453V; 3:186048813-186048814	skin	malignant_melanoma	Substitution - Missense
c.1239C>T; p.N413N; 3:186052102-186052102	liver	carcinoma	Substitution - coding silent
c.1239C>T; p.N413N; 3:186052102-186052102	liver	carcinoma	Substitution - coding silent
c.1239C>T; p.N413N; 3:186052102-186052102	liver	carcinoma	Substitution - coding silent
c.1210-1G>T; p.?; 3:186052132-186052132	lung	carcinoma; adenocarcinoma	Unknown
c.819T>A; p.H273Q; 3:186065904-186065904	breast	carcinoma	Substitution - Missense
c.283C>T; p.P95S; 3:186081125-186081125	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1439C>T; p.T480I; 3:186048733-186048733	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.991C>T; p.P331S; 3:186057471-186057471	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.991C>T; p.P331S; 3:186057471-186057471	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.991C>T; p.P331S; 3:186057471-186057471	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.890G>T; p.R297L; 3:186065833-186065833	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1246G>T; p.A416S; 3:186052095-186052095	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1414G>A; p.E472K; 3:186048758-186048758	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.766C>T; p.P256S; 3:186065957-186065957	breast	carcinoma	Substitution - Missense
c.544C>G; p.P182A; 3:186079923-186079923	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.544C>G; p.P182A; 3:186079923-186079923	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1393C>T; p.P465S; 3:186048779-186048779	skin	malignant_melanoma	Substitution - Missense
c.1385A>G; p.N462S; 3:186048787-186048787	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.755T>C; p.V252A; 3:186065968-186065968	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.232+1G>A; p.?; 3:186105304-186105304	breast	carcinoma	Unknown
c.1425C>T; p.L475L; 3:186048747-186048747	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1515C>T; p.A505A; 3:186048657-186048657	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1358C>T; p.A453V; 3:186048814-186048814	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.441T>C; p.N147N; 3:186080026-186080026	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.710G>C; p.G237A; 3:186066013-186066013	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.710G>C; p.G237A; 3:186066013-186066013	urinary_tract; bladder	carcinoma	Substitution - Missense
c.771G>A; p.P257P; 3:186065952-186065952	large_intestine; rectum	NS	Substitution - coding silent
c.819T>C; p.H273H; 3:186065904-186065904	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.312T>A; p.H104Q; 3:186081096-186081096	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.1209+7A>G; p.?; 3:186057068-186057068	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.148C>A; p.L50I; 3:186105482-186105482	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.16G>C; p.D6H; 3:186105853-186105853	breast	carcinoma	Substitution - Missense
c.1198G>C; p.E400Q; 3:186057086-186057086	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1093C>T; p.R365*; 3:186057191-186057191	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1470C>T; p.P490P; 3:186048702-186048702	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.573T>A; p.F191L; 3:186079894-186079894	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.1518A>G; p.E506E; 3:186048654-186048654	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1451C>T; p.T484I; 3:186048721-186048721	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1335C>T; p.Y445Y; 3:186048837-186048837	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1335C>T; p.Y445Y; 3:186048837-186048837	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.738A>T; p.Q246H; 3:186065985-186065985	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.545C>T; p.P182L; 3:186079922-186079922	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.320C>T; p.A107V; 3:186081088-186081088	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.539C>T; p.S180L; 3:186079928-186079928	skin	malignant_melanoma	Substitution - Missense
c.1329C>A; p.Y443*; 3:186048843-186048843	central_nervous_system; thalamus	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.523G>A; p.A175T; 3:186079944-186079944	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1394C>T; p.P465L; 3:186048778-186048778	skin	malignant_melanoma	Substitution - Missense
c.1356T>C; p.D452D; 3:186048816-186048816	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1008C>T; p.D336D; 3:186057454-186057454	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.1254C>A; p.N418K; 3:186052087-186052087	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.528delC; p.A177fs*30; 3:186079939-186079939	oesophagus; lower_third	carcinoma; adenocarcinoma	Deletion - Frameshift
c.415A>C; p.T139P; 3:186080052-186080052	liver	carcinoma	Substitution - Missense
c.8G>A; p.G3E; 3:186105861-186105861	skin	malignant_melanoma	Substitution - Missense
c.1367C>T; p.S456F; 3:186048805-186048805	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1390C>T; p.R464C; 3:186048782-186048782	thyroid	carcinoma	Substitution - Missense
c.670G>A; p.E224K; 3:186066053-186066053	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.948T>C; p.G316G; 3:186064439-186064439	pancreas	carcinoma	Substitution - coding silent
c.948T>C; p.G316G; 3:186064439-186064439	pancreas	carcinoma	Substitution - coding silent
c.948T>C; p.G316G; 3:186064439-186064439	pancreas	carcinoma	Substitution - coding silent
c.229A>C; p.N77H; 3:186105308-186105308	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1259A>G; p.D420G; 3:186052082-186052082	central_nervous_system; brain	glioma	Substitution - Missense
c.138A>T; p.L46L; 3:186105492-186105492	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.891G>A; p.R297R; 3:186065832-186065832	skin	malignant_melanoma	Substitution - coding silent
c.313G>A; p.E105K; 3:186081095-186081095	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.288C>T; p.S96S; 3:186081120-186081120	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.390G>A; p.G130G; 3:186080077-186080077	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1379C>T; p.P460L; 3:186048793-186048793	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1334A>G; p.Y445C; 3:186048838-186048838	skin	malignant_melanoma	Substitution - Missense
c.1334A>G; p.Y445C; 3:186048838-186048838	skin	malignant_melanoma	Substitution - Missense
c.39C>T; p.V13V; 3:186105830-186105830	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.39C>T; p.V13V; 3:186105830-186105830	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.193G>C; p.D65H; 3:186105344-186105344	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1514C>T; p.A505V; 3:186048658-186048658	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1337A>C; p.K446T; 3:186048835-186048835	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1281C>T; p.R427R; 3:186052060-186052060	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.923G>A; p.C308Y; 3:186064464-186064464	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.701G>T; p.G234V; 3:186066022-186066022	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1450A>G; p.T484A; 3:186048722-186048722	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.455delC; p.P152fs*55; 3:186080012-186080012	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1333T>C; p.Y445H; 3:186048839-186048839	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.144G>A; p.Q48Q; 3:186105486-186105486	skin	malignant_melanoma	Substitution - coding silent
c.230A>G; p.N77S; 3:186105307-186105307	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.287C>T; p.S96F; 3:186081121-186081121	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.575C>T; p.A192V; 3:186079892-186079892	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.782G>A; p.G261E; 3:186065941-186065941	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1094G>A; p.R365Q; 3:186057190-186057190	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.529G>C; p.A177P; 3:186079938-186079938	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.529G>C; p.A177P; 3:186079938-186079938	breast	carcinoma	Substitution - Missense
c.683C>T; p.P228L; 3:186066040-186066040	skin; trunk	malignant_melanoma	Substitution - Missense
c.253C>G; p.P85A; 3:186081155-186081155	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1419C>T; p.C473C; 3:186048753-186048753	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.824T>G; p.V275G; 3:186065899-186065899	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1413C>T; p.S471S; 3:186048759-186048759	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1391G>A; p.R464H; 3:186048781-186048781	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.113A>G; p.D38G; 3:186105645-186105645	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.529G>A; p.A177T; 3:186079938-186079938	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.529G>A; p.A177T; 3:186079938-186079938	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1175G>A; p.R392Q; 3:186057109-186057109	breast	carcinoma	Substitution - Missense
c.1354G>C; p.D452H; 3:186048818-186048818	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.1311+1G>C; p.?; 3:186052029-186052029	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.1493G>A; p.R498H; 3:186048679-186048679	pancreas	carcinoma	Substitution - Missense
c.719G>A; p.R240H; 3:186066004-186066004	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1069C>G; p.R357G; 3:186057215-186057215	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1291G>A; p.E431K; 3:186052050-186052050	breast	carcinoma	Substitution - Missense
c.1009G>A; p.D337N; 3:186057453-186057453	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1303A>G; p.M435V; 3:186052038-186052038	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.238C>A; p.L80I; 3:186081170-186081170	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.149T>G; p.L50R; 3:186105481-186105481	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.149T>G; p.L50R; 3:186105481-186105481	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.217T>G; p.F73V; 3:186105320-186105320	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.443C>T; p.P148L; 3:186080024-186080024	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.443C>T; p.P148L; 3:186080024-186080024	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.443C>T; p.P148L; 3:186080024-186080024	skin	malignant_melanoma	Substitution - Missense
c.1171G>T; p.G391C; 3:186057113-186057113	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1477C>T; p.L493F; 3:186048695-186048695	skin	malignant_melanoma	Substitution - Missense
c.190C>T; p.P64S; 3:186105347-186105347	skin	malignant_melanoma	Substitution - Missense
c.190C>T; p.P64S; 3:186105347-186105347	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.691C>T; p.P231S; 3:186066032-186066032	skin	malignant_melanoma	Substitution - Missense
c.601C>T; p.L201L; 3:186079866-186079866	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.1368C>T; p.S456S; 3:186048804-186048804	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.601C>T; p.L201L; 3:186079866-186079866	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1126A>C; p.T376P; 3:186057158-186057158	breast	carcinoma	Substitution - Missense
c.613A>C; p.K205Q; 3:186079854-186079854	lung	carcinoma; adenocarcinoma	Substitution - Missense

COSMIC somatic mutation [Top]