Entrez Gene

Basic Information
Gene ID	55740
Name	ENAH
Synonymous	enabled homolog (Drosophila);ENAH;enabled homolog (Drosophila)
Definition	mammalian enabled variant 11a\|mammalian enabled variant pan\|protein enabled homolog
Position	1q42.12
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1495A>C; p.R499R; 1:225507994-225507994	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.779G>C; p.R260T; 1:225519221-225519221	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1131C>A; p.F377L; 1:225514683-225514683	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.474G>A; p.R158R; 1:225519526-225519526	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.242G>A; p.R81Q; 1:225555013-225555013	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1432G>T; p.E478*; 1:225511850-225511850	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1584C>T; p.S528S; 1:225505008-225505008	skin	malignant_melanoma	Substitution - coding silent
c.694C>T; p.R232*; 1:225519306-225519306	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1445C>T; p.S482F; 1:225511837-225511837	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.103G>T; p.V35F; 1:225567317-225567317	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1021C>T; p.P341S; 1:225514793-225514793	thyroid	other; neoplasm	Substitution - Missense
c.472C>T; p.R158W; 1:225519528-225519528	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1705G>T; p.E569*; 1:225498380-225498380	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1251T>C; p.N417N; 1:225512984-225512984	breast	carcinoma	Substitution - coding silent
c.1538+1G>A; p.?; 1:225507950-225507950	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.615G>A; p.E205E; 1:225519385-225519385	thyroid	other; neoplasm	Substitution - coding silent
c.1094C>T; p.P365L; 1:225514720-225514720	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.739C>T; p.R247*; 1:225519261-225519261	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.739C>T; p.R247*; 1:225519261-225519261	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1217G>A; p.R406Q; 1:225514597-225514597	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1217G>A; p.R406Q; 1:225514597-225514597	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.874C>T; p.Q292*; 1:225517235-225517235	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1359C>T; p.A453A; 1:225512876-225512876	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.153G>A; p.R51R; 1:225567267-225567267	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1559delA; p.N520fs*39; 1:225505033-225505033	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1007C>T; p.P336L; 1:225514807-225514807	skin	malignant_melanoma	Substitution - Missense
c.671G>T; p.R224L; 1:225519329-225519329	skin	malignant_melanoma	Substitution - Missense
c.680A>G; p.Q227R; 1:225519320-225519320	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1451C>T; p.A484V; 1:225511831-225511831	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1062T>C; p.P354P; 1:225514752-225514752	thyroid	other; neoplasm	Substitution - coding silent
c.265C>A; p.L89I; 1:225554990-225554990	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.914-4_914-3delTC; p.?; 1:225514903-225514904	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.649G>A; p.E217K; 1:225519351-225519351	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.174C>T; p.V58V; 1:225555081-225555081	breast	carcinoma	Substitution - coding silent
c.1313C>T; p.P438L; 1:225512922-225512922	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1535C>A; p.S512Y; 1:225507954-225507954	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.585_586insGA; p.Q196fs*57; 1:225519414-225519415	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1219-6A>G; p.?; 1:225513022-225513022	pancreas	carcinoma	Unknown
c.199G>T; p.G67W; 1:225555056-225555056	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.600G>A; p.R200R; 1:225519400-225519400	breast	carcinoma	Substitution - coding silent
c.784C>T; p.R262C; 1:225519216-225519216	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.784C>T; p.R262C; 1:225519216-225519216	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.641_642insG; p.R215fs*60; 1:225519358-225519359	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.641_642insG; p.R215fs*60; 1:225519358-225519359	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.641_642insG; p.R215fs*60; 1:225519358-225519359	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.641_642insG; p.R215fs*60; 1:225519358-225519359	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.641_642insG; p.R215fs*60; 1:225519358-225519359	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.641_642insG; p.R215fs*60; 1:225519358-225519359	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.641_642insG; p.R215fs*60; 1:225519358-225519359	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.641_642insG; p.R215fs*60; 1:225519358-225519359	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.641_642insG; p.R215fs*60; 1:225519358-225519359	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.1018C>T; p.P340S; 1:225514796-225514796	skin	malignant_melanoma	Substitution - Missense
c.425T>A; p.I142N; 1:225530563-225530563	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1591T>A; p.S531T; 1:225505001-225505001	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.958C>T; p.P320S; 1:225514856-225514856	skin	malignant_melanoma	Substitution - Missense
c.1343T>C; p.M448T; 1:225512892-225512892	skin	malignant_melanoma	Substitution - Missense
c.263G>A; p.G88D; 1:225554992-225554992	skin	malignant_melanoma	Substitution - Missense
c.435-5delT; p.?; 1:225519570-225519570	oesophagus; lower_third	carcinoma; adenocarcinoma	Unknown
c.644G>A; p.R215H; 1:225519356-225519356	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.85T>G; p.S29A; 1:225567335-225567335	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.85T>G; p.S29A; 1:225567335-225567335	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.654G>A; p.R218R; 1:225519346-225519346	breast	carcinoma	Substitution - coding silent
c.1468C>T; p.P490S; 1:225511814-225511814	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.765G>A; p.Q255Q; 1:225519235-225519235	liver	carcinoma	Substitution - coding silent
c.765G>A; p.Q255Q; 1:225519235-225519235	liver	carcinoma	Substitution - coding silent
c.1602-3C>T; p.?; 1:225501073-225501073	liver	carcinoma	Unknown
c.1602-3C>T; p.?; 1:225501073-225501073	liver	carcinoma	Unknown
c.1711A>T; p.T571S; 1:225498374-225498374	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1164T>A; p.P388P; 1:225514650-225514650	thyroid	other; neoplasm	Substitution - coding silent
c.740G>A; p.R247Q; 1:225519260-225519260	central_nervous_system; brain	glioma	Substitution - Missense
c.1205G>A; p.R402K; 1:225514609-225514609	skin	malignant_melanoma	Substitution - Missense
c.1206G>A; p.R402R; 1:225514608-225514608	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1204A>C; p.R402R; 1:225514610-225514610	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.131A>G; p.N44S; 1:225567289-225567289	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.635G>T; p.R212L; 1:225519365-225519365	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.652C>T; p.R218W; 1:225519348-225519348	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.451C>A; p.Q151K; 1:225519549-225519549	NS	NS	Substitution - Missense
c.593G>A; p.R198Q; 1:225519407-225519407	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1268C>A; p.S423Y; 1:225512967-225512967	breast	carcinoma	Substitution - Missense
c.625C>T; p.R209C; 1:225519375-225519375	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.454C>T; p.R152W; 1:225519546-225519546	pancreas	carcinoma	Substitution - Missense
c.597A>G; p.E199E; 1:225519403-225519403	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.597A>G; p.E199E; 1:225519403-225519403	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.553C>T; p.R185*; 1:225519447-225519447	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.427C>T; p.Q143*; 1:225530561-225530561	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Nonsense
c.292A>G; p.N98D; 1:225554963-225554963	breast	carcinoma	Substitution - Missense
c.736G>A; p.E246K; 1:225519264-225519264	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1124C>T; p.S375F; 1:225514690-225514690	skin; mucosal	malignant_melanoma	Substitution - Missense
c.651G>T; p.E217D; 1:225519349-225519349	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1648A>T; p.T550S; 1:225501024-225501024	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1648A>T; p.T550S; 1:225501024-225501024	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1648A>T; p.T550S; 1:225501024-225501024	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.403C>T; p.P135S; 1:225530585-225530585	skin	malignant_melanoma	Substitution - Missense
c.1293C>T; p.G431G; 1:225512942-225512942	skin	malignant_melanoma	Substitution - coding silent
c.388C>T; p.Q130*; 1:225530600-225530600	breast	carcinoma	Substitution - Nonsense
c.812C>T; p.A271V; 1:225517297-225517297	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.812C>T; p.A271V; 1:225517297-225517297	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.320C>T; p.A107V; 1:225554935-225554935	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.584_585delGA; p.R195fs*79; 1:225519415-225519416	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1217G>T; p.R406L; 1:225514597-225514597	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1253C>G; p.A418G; 1:225512982-225512982	pleura	pulmonary_blastoma	Substitution - Missense
c.1540C>T; p.R514W; 1:225505052-225505052	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.523_524delAG; p.R175fs*99; 1:225519476-225519477	pancreas	carcinoma; acinar_carcinoma	Deletion - Frameshift
c.1312C>T; p.P438S; 1:225512923-225512923	skin	malignant_melanoma	Substitution - Missense
c.418T>C; p.L140L; 1:225530570-225530570	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - coding silent
c.936A>C; p.A312A; 1:225514878-225514878	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.412G>A; p.E138K; 1:225530576-225530576	skin; mucosal	malignant_melanoma	Substitution - Missense
c.1092T>A; p.P364P; 1:225514722-225514722	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.599G>C; p.R200P; 1:225519401-225519401	breast	carcinoma	Substitution - Missense
c.759G>A; p.R253R; 1:225519241-225519241	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.759G>A; p.R253R; 1:225519241-225519241	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1169C>T; p.T390I; 1:225514645-225514645	breast	carcinoma	Substitution - Missense
c.1771G>T; p.A591S; 1:225497780-225497780	skin	malignant_melanoma	Substitution - Missense
c.1006C>T; p.P336S; 1:225514808-225514808	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.308C>T; p.A103V; 1:225554947-225554947	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.404C>T; p.P135L; 1:225530584-225530584	skin	malignant_melanoma	Substitution - Missense
c.695G>A; p.R232Q; 1:225519305-225519305	breast	carcinoma	Substitution - Missense
c.718C>T; p.R240W; 1:225519282-225519282	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1760A>C; p.K587T; 1:225497791-225497791	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.718C>T; p.R240W; 1:225519282-225519282	skin; upper_arm	malignant_melanoma	Substitution - Missense

COSMIC somatic mutation [Top]