Entrez Gene

Basic Information
Gene ID	9971
Name	NR1H4
Synonymous	nuclear receptor subfamily 1, group H, member 4;NR1H4;nuclear receptor subfamily 1, group H, member 4
Definition	RXR-interacting protein 14\|bile acid receptor\|farnesoid X nuclear receptor\|farnesoid X-activated receptor\|farnesol receptor HRR-1\|retinoid X receptor-interacting protein 14
Position	12q23.1
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.28C>A; p.H10N; 12:100493351-100493351	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.191C>T; p.S64L; 12:100510889-100510889	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.588C>T; p.C196C; 12:100534891-100534891	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.593T>C; p.L198S; 12:100534896-100534896	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1028G>A; p.G343E; 12:100540780-100540780	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.447T>C; p.G149G; 12:100532459-100532459	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.403T>C; p.S135P; 12:100511101-100511101	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2T>A; p.M1K; 12:100493325-100493325	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.850T>G; p.F284V; 12:100536978-100536978	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.527G>A; p.R176Q; 12:100532539-100532539	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.527G>A; p.R176Q; 12:100532539-100532539	skin	malignant_melanoma	Substitution - Missense
c.656C>T; p.T219I; 12:100534959-100534959	skin	malignant_melanoma	Substitution - Missense
c.527G>A; p.R176Q; 12:100532539-100532539	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.503A>G; p.N168S; 12:100532515-100532515	skin	malignant_melanoma	Substitution - Missense
c.1059A>G; p.R353R; 12:100540811-100540811	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.313G>C; p.E105Q; 12:100511011-100511011	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.858T>G; p.I286M; 12:100536986-100536986	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.583G>A; p.E195K; 12:100532595-100532595	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.175_176CC>AA; p.P59K; 12:100510873-100510874	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.510G>A; p.V170V; 12:100532522-100532522	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.992G>A; p.R331H; 12:100540744-100540744	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1273G>A; p.E425K; 12:100563343-100563343	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.163C>T; p.P55S; 12:100510861-100510861	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.998C>T; p.A333V; 12:100540750-100540750	skin	malignant_melanoma	Substitution - Missense
c.338G>A; p.R113H; 12:100511036-100511036	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.352G>T; p.A118S; 12:100511050-100511050	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.864G>A; p.T288T; 12:100536992-100536992	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.657C>G; p.T219T; 12:100534960-100534960	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.570G>A; p.M190I; 12:100532582-100532582	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.120C>T; p.N40N; 12:100510818-100510818	breast	carcinoma	Substitution - coding silent
c.369G>A; p.G123G; 12:100511067-100511067	skin; leg	malignant_melanoma	Substitution - coding silent
c.369G>A; p.G123G; 12:100511067-100511067	skin; leg	malignant_melanoma	Substitution - coding silent
c.1311G>T; p.L437L; 12:100563381-100563381	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.530G>T; p.R177I; 12:100532542-100532542	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.657C>T; p.T219T; 12:100534960-100534960	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.445G>T; p.G149C; 12:100511143-100511143	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.696G>C; p.V232V; 12:100534999-100534999	breast	carcinoma	Substitution - coding silent
c.445G>T; p.G149C; 12:100511143-100511143	pancreas	carcinoma	Substitution - Missense
c.339C>A; p.R113R; 12:100511037-100511037	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.701C>T; p.S234L; 12:100535004-100535004	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.844G>C; p.E282Q; 12:100536972-100536972	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.558A>G; p.K186K; 12:100532570-100532570	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.336C>T; p.P112P; 12:100511034-100511034	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.782A>G; p.N261S; 12:100536573-100536573	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1331A>G; p.N444S; 12:100563401-100563401	breast	carcinoma	Substitution - Missense
c.919+5T>C; p.?; 12:100537052-100537052	lung	carcinoma; adenocarcinoma	Unknown
c.914T>C; p.L305P; 12:100537042-100537042	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.357G>A; p.G119G; 12:100511055-100511055	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.229C>T; p.P77S; 12:100510927-100510927	skin	malignant_melanoma	Substitution - Missense
c.774T>G; p.D258E; 12:100536565-100536565	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.649G>C; p.D217H; 12:100534952-100534952	breast	carcinoma	Substitution - Missense
c.1173G>A; p.L391L; 12:100561991-100561991	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1234C>T; p.L412F; 12:100563304-100563304	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.653A>T; p.Q218L; 12:100534956-100534956	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.285T>G; p.T95T; 12:100510983-100510983	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.1157C>G; p.T386R; 12:100561975-100561975	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.391G>T; p.G131*; 12:100511089-100511089	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.397A>T; p.R133*; 12:100511095-100511095	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.468_469insA; p.N158fs*7; 12:100532480-100532481	oesophagus	carcinoma; adenocarcinoma	Insertion - Frameshift
c.846A>T; p.E282D; 12:100536974-100536974	breast	carcinoma	Substitution - Missense
c.900A>C; p.E300D; 12:100537028-100537028	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.780T>A; p.Y260*; 12:100536571-100536571	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.1016A>T; p.K339I; 12:100540768-100540768	liver	carcinoma	Substitution - Missense
c.1016A>T; p.K339I; 12:100540768-100540768	liver	carcinoma	Substitution - Missense
c.671G>T; p.S224I; 12:100534974-100534974	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.802G>A; p.E268K; 12:100536593-100536593	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - Missense
c.1058G>A; p.R353Q; 12:100540810-100540810	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1058G>A; p.R353Q; 12:100540810-100540810	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1058G>A; p.R353Q; 12:100540810-100540810	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.1096T>C; p.F366L; 12:100561914-100561914	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1058G>A; p.R353Q; 12:100540810-100540810	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1058G>A; p.R353Q; 12:100540810-100540810	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.662A>G; p.N221S; 12:100534965-100534965	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1209A>T; p.A403A; 12:100563279-100563279	NS	NS	Substitution - coding silent
c.138C>A; p.Y46*; 12:100510836-100510836	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.458G>T; p.R153I; 12:100532470-100532470	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.459A>T; p.R153S; 12:100532471-100532471	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.907A>C; p.K303Q; 12:100537035-100537035	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.105T>C; p.G35G; 12:100510803-100510803	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.251G>A; p.G84E; 12:100510949-100510949	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.688C>G; p.R230G; 12:100534991-100534991	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.49G>T; p.D17Y; 12:100493372-100493372	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1269G>C; p.Q423H; 12:100563339-100563339	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.185C>T; p.S62F; 12:100510883-100510883	skin	malignant_melanoma	Substitution - Missense
c.185C>T; p.S62F; 12:100510883-100510883	skin	malignant_melanoma	Substitution - Missense
c.555G>A; p.R185R; 12:100532567-100532567	skin	malignant_melanoma	Substitution - coding silent
c.163C>A; p.P55T; 12:100510861-100510861	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.757C>T; p.L253L; 12:100536548-100536548	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.968C>T; p.S323F; 12:100540720-100540720	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.257A>T; p.Y86F; 12:100510955-100510955	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.298G>A; p.E100K; 12:100510996-100510996	skin	malignant_melanoma	Substitution - Missense
c.919+2T>C; p.?; 12:100537049-100537049	stomach	carcinoma; adenocarcinoma	Unknown
c.345C>T; p.G115G; 12:100511043-100511043	ovary	other; neoplasm	Substitution - coding silent
c.530G>A; p.R177K; 12:100532542-100532542	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.642G>A; p.Q214Q; 12:100534945-100534945	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.348G>A; p.A116A; 12:100511046-100511046	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.348G>A; p.A116A; 12:100511046-100511046	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1141G>A; p.E381K; 12:100561959-100561959	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.445G>A; p.G149S; 12:100511143-100511143	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.372T>A; p.D124E; 12:100511070-100511070	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1117delG; p.E374fs*2; 12:100561935-100561935	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.1234C>A; p.L412I; 12:100563304-100563304	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.141G>A; p.S47S; 12:100510839-100510839	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1197G>A; p.K399K; 12:100563267-100563267	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.919+1G>A; p.?; 12:100537048-100537048	ovary	carcinoma; serous_carcinoma	Unknown
c.450C>A; p.F150L; 12:100532462-100532462	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1044G>A; p.L348L; 12:100540796-100540796	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1075G>A; p.D359N; 12:100561893-100561893	breast	carcinoma	Substitution - Missense
c.391G>A; p.G131R; 12:100511089-100511089	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1062T>C; p.N354N; 12:100540814-100540814	prostate	carcinoma	Substitution - coding silent
c.971C>G; p.A324G; 12:100540723-100540723	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.689G>T; p.R230L; 12:100534992-100534992	liver	carcinoma	Substitution - Missense
c.677G>A; p.G226D; 12:100534980-100534980	skin	malignant_melanoma	Substitution - Missense
c.269G>A; p.R90H; 12:100510967-100510967	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.269G>A; p.R90H; 12:100510967-100510967	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.269G>A; p.R90H; 12:100510967-100510967	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.458G>C; p.R153T; 12:100532470-100532470	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1410C>T; p.D470D; 12:100563480-100563480	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.623T>C; p.L208P; 12:100534926-100534926	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.623T>C; p.L208P; 12:100534926-100534926	skin	malignant_melanoma	Substitution - Missense
c.1057C>T; p.R353*; 12:100540809-100540809	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.346G>A; p.A116T; 12:100511044-100511044	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1057C>A; p.R353R; 12:100540809-100540809	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1041A>T; p.L347L; 12:100540793-100540793	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.67delG; p.E23fs*7; 12:100493390-100493390	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.269G>T; p.R90L; 12:100510967-100510967	bone; femur	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.645T>C; p.H215H; 12:100534948-100534948	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1407G>C; p.W469C; 12:100563477-100563477	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.639G>T; p.K213N; 12:100534942-100534942	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.639G>T; p.K213N; 12:100534942-100534942	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.639G>T; p.K213N; 12:100534942-100534942	large_intestine; colon	carcinoma	Substitution - Missense
c.639G>T; p.K213N; 12:100534942-100534942	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1301T>A; p.L434Q; 12:100563371-100563371	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1193T>G; p.I398R; 12:100563263-100563263	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1241T>C; p.V414A; 12:100563311-100563311	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1372G>T; p.D458Y; 12:100563442-100563442	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1266C>T; p.H422H; 12:100563336-100563336	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.934G>A; p.D312N; 12:100540686-100540686	skin	malignant_melanoma	Substitution - Missense
c.1387C>A; p.P463T; 12:100563457-100563457	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1416G>A; p.Q472Q; 12:100563486-100563486	prostate	carcinoma	Substitution - coding silent
c.713C>T; p.S238L; 12:100535016-100535016	skin	malignant_melanoma	Substitution - Missense
c.342G>C; p.M114I; 12:100511040-100511040	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1372G>A; p.D458N; 12:100563442-100563442	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1372G>A; p.D458N; 12:100563442-100563442	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.715T>A; p.C239S; 12:100535018-100535018	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.783C>T; p.N261N; 12:100536574-100536574	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.952G>A; p.A318T; 12:100540704-100540704	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.783C>T; p.N261N; 12:100536574-100536574	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.728C>G; p.T243S; 12:100536519-100536519	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.863C>T; p.T288M; 12:100536991-100536991	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.373G>T; p.E125*; 12:100511071-100511071	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1356G>A; p.M452I; 12:100563426-100563426	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.274C>T; p.P92S; 12:100510972-100510972	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.348G>C; p.A116A; 12:100511046-100511046	skin	malignant_melanoma	Substitution - coding silent
c.235G>C; p.E79Q; 12:100510933-100510933	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.657C>A; p.T219T; 12:100534960-100534960	lung	carcinoma; adenocarcinoma	Substitution - coding silent

COSMIC somatic mutation [Top]