Entrez Gene

Basic Information
Gene ID	2494
Name	NR5A2
Synonymous	nuclear receptor subfamily 5, group A, member 2;NR5A2;nuclear receptor subfamily 5, group A, member 2
Definition	CYP7A promoter-binding factor\|alpha-1-fetoprotein transcription factor\|b1-binding factor, hepatocyte transcription factor which activates enhancer II of hepatitis B virus\|fetoprotein-alpha 1 (AFP) transcription factor\|hepatocytic transcription factor hB1F
Position	1q32.1
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.409C>T; p.R137C; 1:200045530-200045530	breast	carcinoma	Substitution - Missense
c.671C>T; p.P224L; 1:200048379-200048379	skin	malignant_melanoma	Substitution - Missense
c.78G>A; p.P26P; 1:200039671-200039671	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1164C>T; p.L388L; 1:200111255-200111255	breast	carcinoma	Substitution - coding silent
c.1164C>T; p.L388L; 1:200111255-200111255	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1306G>T; p.A436S; 1:200120883-200120883	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1551C>T; p.L517L; 1:200174135-200174135	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.554T>A; p.L185H; 1:200048262-200048262	breast	carcinoma	Substitution - Missense
c.1102G>T; p.E368*; 1:200048810-200048810	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1386A>C; p.K462N; 1:200173970-200173970	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1345G>A; p.V449I; 1:200120922-200120922	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1315C>T; p.R439C; 1:200120892-200120892	skin	malignant_melanoma	Substitution - Missense
c.1315C>T; p.R439C; 1:200120892-200120892	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1315C>T; p.R439C; 1:200120892-200120892	skin	malignant_melanoma	Substitution - Missense
c.538C>G; p.Q180E; 1:200048246-200048246	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1315C>T; p.R439C; 1:200120892-200120892	skin	malignant_melanoma	Substitution - Missense
c.1359C>T; p.F453F; 1:200120936-200120936	skin	malignant_melanoma	Substitution - coding silent
c.1307C>A; p.A436E; 1:200120884-200120884	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.623C>T; p.T208I; 1:200048331-200048331	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1568A>C; p.N523T; 1:200174152-200174152	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.464C>T; p.A155V; 1:200048172-200048172	skin	malignant_melanoma	Substitution - Missense
c.676A>T; p.N226Y; 1:200048384-200048384	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.330T>C; p.F110F; 1:200045451-200045451	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.979C>A; p.Q327K; 1:200048687-200048687	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1428A>G; p.Q476Q; 1:200174012-200174012	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1428A>G; p.Q476Q; 1:200174012-200174012	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.322G>A; p.G108R; 1:200045443-200045443	skin	malignant_melanoma	Substitution - Missense
c.334C>T; p.R112*; 1:200045455-200045455	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1278C>T; p.N426N; 1:200120855-200120855	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.356G>T; p.R119M; 1:200045477-200045477	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1377A>C; p.L459F; 1:200120954-200120954	skin	malignant_melanoma	Substitution - Missense
c.560G>A; p.R187Q; 1:200048268-200048268	meninges	meningioma; secretory	Substitution - Missense
c.1444C>T; p.L482L; 1:200174028-200174028	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1444C>T; p.L482L; 1:200174028-200174028	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.905C>T; p.P302L; 1:200048613-200048613	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1449_1461del13; p.D483fs*36; 1:200174033-200174045	breast	carcinoma	Deletion - Frameshift
c.824A>T; p.D275V; 1:200048532-200048532	liver	carcinoma	Substitution - Missense
c.456G>T; p.K152N; 1:200045577-200045577	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1441C>T; p.L481L; 1:200174025-200174025	skin	malignant_melanoma	Substitution - coding silent
c.1363G>A; p.V455M; 1:200120940-200120940	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1167C>T; p.D389D; 1:200111258-200111258	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.342C>A; p.V114V; 1:200045463-200045463	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.298C>A; p.L100I; 1:200043869-200043869	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.695C>T; p.P232L; 1:200048403-200048403	skin	malignant_melanoma	Substitution - Missense
c.695C>T; p.P232L; 1:200048403-200048403	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.130A>G; p.K44E; 1:200039723-200039723	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1165G>A; p.D389N; 1:200111256-200111256	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.507G>A; p.G169G; 1:200048215-200048215	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.33A>C; p.Q11H; 1:200027880-200027880	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.530C>A; p.A177D; 1:200048238-200048238	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.985G>A; p.E329K; 1:200048693-200048693	skin	malignant_melanoma	Substitution - Missense
c.1009G>A; p.E337K; 1:200048717-200048717	skin	malignant_melanoma	Substitution - Missense
c.1083G>A; p.R361R; 1:200048791-200048791	skin	malignant_melanoma	Substitution - coding silent
c.543G>T; p.Q181H; 1:200048251-200048251	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1469C>A; p.P490Q; 1:200174053-200174053	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.249A>G; p.E83E; 1:200043820-200043820	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1280T>C; p.L427P; 1:200120857-200120857	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.537G>A; p.K179K; 1:200048245-200048245	prostate	adenoma	Substitution - coding silent
c.656C>T; p.A219V; 1:200048364-200048364	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.407A>G; p.K136R; 1:200045528-200045528	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.756C>T; p.H252H; 1:200048464-200048464	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.404G>T; p.R135I; 1:200045525-200045525	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1344C>T; p.F448F; 1:200120921-200120921	skin	malignant_melanoma	Substitution - coding silent
c.1344C>T; p.F448F; 1:200120921-200120921	breast	carcinoma	Substitution - coding silent
c.1344C>T; p.F448F; 1:200120921-200120921	skin	malignant_melanoma	Substitution - coding silent
c.253C>T; p.L85F; 1:200043824-200043824	breast	carcinoma	Substitution - Missense
c.527G>A; p.R176K; 1:200048235-200048235	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1438G>A; p.A480T; 1:200174022-200174022	breast	carcinoma	Substitution - Missense
c.220G>A; p.V74M; 1:200043791-200043791	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.626T>C; p.I209T; 1:200048334-200048334	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.525C>G; p.D175E; 1:200048233-200048233	pancreas	carcinoma	Substitution - Missense
c.525C>G; p.D175E; 1:200048233-200048233	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.561A>T; p.R187R; 1:200048269-200048269	liver	carcinoma	Substitution - coding silent
c.996C>T; p.N332N; 1:200048704-200048704	skin	malignant_melanoma	Substitution - coding silent
c.875G>C; p.S292T; 1:200048583-200048583	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1477A>G; p.T493A; 1:200174061-200174061	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1545A>G; p.E515E; 1:200174129-200174129	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.981G>A; p.Q327Q; 1:200048689-200048689	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.338C>T; p.T113I; 1:200045459-200045459	skin; trunk	malignant_melanoma	Substitution - Missense
c.1517T>G; p.I506S; 1:200174101-200174101	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.87C>T; p.H29H; 1:200039680-200039680	skin	malignant_melanoma	Substitution - coding silent
c.160C>T; p.R54*; 1:200039753-200039753	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.1626A>C; p.*542Y; 1:200174210-200174210	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma	Nonstop extension
c.1626A>C; p.*542Y; 1:200174210-200174210	stomach	carcinoma; adenocarcinoma	Nonstop extension
c.1519C>T; p.R507W; 1:200174103-200174103	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1235A>G; p.D412G; 1:200120812-200120812	skin	malignant_melanoma	Substitution - Missense
c.612C>T; p.P204P; 1:200048320-200048320	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.750C>G; p.P250P; 1:200048458-200048458	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1178G>A; p.R393Q; 1:200111269-200111269	skin	malignant_melanoma	Substitution - Missense
c.750C>G; p.P250P; 1:200048458-200048458	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.343C>T; p.Q115*; 1:200045464-200045464	skin	malignant_melanoma	Substitution - Nonsense
c.1542A>G; p.E514E; 1:200174126-200174126	skin	malignant_melanoma	Substitution - coding silent
c.758G>A; p.G253D; 1:200048466-200048466	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.462A>C; p.E154D; 1:200045583-200045583	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.460G>T; p.E154*; 1:200045581-200045581	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1573G>A; p.D525N; 1:200174157-200174157	skin	malignant_melanoma	Substitution - Missense
c.1573G>A; p.D525N; 1:200174157-200174157	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.474C>T; p.A158A; 1:200048182-200048182	skin	malignant_melanoma	Substitution - coding silent
c.559C>T; p.R187*; 1:200048267-200048267	liver	carcinoma	Substitution - Nonsense
c.559C>T; p.R187*; 1:200048267-200048267	liver	carcinoma	Substitution - Nonsense
c.823G>A; p.D275N; 1:200048531-200048531	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1197G>A; p.K399K; 1:200111288-200111288	skin	malignant_melanoma	Substitution - coding silent
c.271G>T; p.D91Y; 1:200043842-200043842	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.728C>T; p.S243F; 1:200048436-200048436	skin	malignant_melanoma	Substitution - Missense
c.25G>A; p.D9N; 1:200027872-200027872	skin	malignant_melanoma	Substitution - Missense
c.325delT; p.F110fs*14; 1:200045446-200045446	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1072G>A; p.E358K; 1:200048780-200048780	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.419A>G; p.Y140C; 1:200045540-200045540	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.419A>G; p.Y140C; 1:200045540-200045540	large_intestine; colon	carcinoma	Substitution - Missense
c.140C>A; p.T47K; 1:200039733-200039733	pancreas	carcinoma	Substitution - Missense
c.758G>C; p.G253A; 1:200048466-200048466	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1065C>A; p.S355S; 1:200048773-200048773	prostate	carcinoma	Substitution - coding silent
c.1513G>A; p.E505K; 1:200174097-200174097	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1513G>A; p.E505K; 1:200174097-200174097	skin	malignant_melanoma	Substitution - Missense
c.569G>T; p.G190V; 1:200048277-200048277	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.285G>A; p.G95G; 1:200043856-200043856	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.285G>A; p.G95G; 1:200043856-200043856	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.92C>T; p.S31F; 1:200039685-200039685	skin	malignant_melanoma	Substitution - Missense
c.803C>T; p.A268V; 1:200048511-200048511	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1572G>A; p.G524G; 1:200174156-200174156	skin	malignant_melanoma	Substitution - coding silent
c.72G>C; p.G24G; 1:200039665-200039665	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.485G>A; p.R162H; 1:200048193-200048193	central_nervous_system; brain	glioma	Substitution - Missense
c.1316G>A; p.R439H; 1:200120893-200120893	skin	malignant_melanoma	Substitution - Missense
c.345A>T; p.Q115H; 1:200045466-200045466	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1316G>A; p.R439H; 1:200120893-200120893	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1316G>A; p.R439H; 1:200120893-200120893	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.183G>C; p.Q61H; 1:200039776-200039776	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1104A>C; p.E368D; 1:200048812-200048812	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.169G>T; p.G57W; 1:200039762-200039762	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1501C>T; p.L501F; 1:200174085-200174085	skin	malignant_melanoma	Substitution - Missense
c.1379delA; p.D460fs*11; 1:200173963-200173963	prostate	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1466A>G; p.Y489C; 1:200174050-200174050	breast	carcinoma	Substitution - Missense
c.1099A>T; p.R367*; 1:200048807-200048807	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1198G>A; p.E400K; 1:200111289-200111289	skin	malignant_melanoma	Substitution - Missense
c.509C>T; p.P170L; 1:200048217-200048217	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1403A>T; p.Q468L; 1:200173987-200173987	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.53T>G; p.L18R; 1:200027900-200027900	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.694C>T; p.P232S; 1:200048402-200048402	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.260C>T; p.P87L; 1:200043831-200043831	skin	malignant_melanoma	Substitution - Missense
c.1028G>A; p.G343E; 1:200048736-200048736	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.323G>A; p.G108E; 1:200045444-200045444	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.323G>A; p.G108E; 1:200045444-200045444	skin; trunk	malignant_melanoma	Substitution - Missense
c.323G>A; p.G108E; 1:200045444-200045444	skin	malignant_melanoma	Substitution - Missense
c.284G>T; p.G95V; 1:200043855-200043855	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.842C>A; p.P281H; 1:200048550-200048550	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.381C>T; p.N127N; 1:200045502-200045502	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.800G>A; p.R267Q; 1:200048508-200048508	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.730C>T; p.P244S; 1:200048438-200048438	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.754C>T; p.H252Y; 1:200048462-200048462	breast	carcinoma	Substitution - Missense
c.784_785GG>TT; p.G262F; 1:200048492-200048493	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.283G>T; p.G95W; 1:200043854-200043854	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.280T>C; p.S94P; 1:200043851-200043851	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.446T>C; p.V149A; 1:200045567-200045567	liver	carcinoma	Substitution - Missense
c.1445_1447delTGG; p.L482_D483>H; 1:200174029-200174031	breast	carcinoma	Complex - deletion inframe
c.615T>C; p.S205S; 1:200048323-200048323	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.24G>A; p.G8G; 1:200027871-200027871	skin	malignant_melanoma	Substitution - coding silent
c.1289A>G; p.H430R; 1:200120866-200120866	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1430T>C; p.V477A; 1:200174014-200174014	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1137G>A; p.Q379Q; 1:200111228-200111228	skin	malignant_melanoma	Substitution - coding silent
c.410G>A; p.R137H; 1:200045531-200045531	stomach	adenocarcinoma	Substitution - Missense
c.997C>A; p.R333R; 1:200048705-200048705	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.241G>C; p.D81H; 1:200043812-200043812	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1071C>T; p.V357V; 1:200048779-200048779	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1008C>T; p.H336H; 1:200048716-200048716	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1378G>A; p.D460N; 1:200120955-200120955	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.82C>T; p.R28*; 1:200039675-200039675	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1276A>C; p.N426H; 1:200120853-200120853	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1583A>G; p.Y528C; 1:200174167-200174167	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1270C>A; p.L424I; 1:200120847-200120847	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1270C>A; p.L424I; 1:200120847-200120847	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.425G>A; p.R142H; 1:200045546-200045546	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.238G>A; p.E80K; 1:200043809-200043809	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.624C>T; p.T208T; 1:200048332-200048332	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent

COSMIC somatic mutation [Top]