Entrez Gene

Basic Information
Gene ID	6720
Name	SREBF1
Synonymous	sterol regulatory element binding transcription factor 1;SREBF1;sterol regulatory element binding transcription factor 1
Definition	SREBP-1\|class D basic helix-loop-helix protein 1\|sterol regulatory element-binding protein 1
Position	17p11.2
Gene Type	protein-coding

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

c.2366C>T; p.A789V; 17:17815967-17815967	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.3234C>A; p.A1078A; 17:17813438-17813438	breast	carcinoma	Substitution - coding silent
c.1247G>C; p.S416T; 17:17818286-17818286	breast	carcinoma	Substitution - Missense
c.2306G>A; p.R769H; 17:17816027-17816027	breast	carcinoma	Substitution - Missense
c.2344_2345delCA; p.Q782fs*76; 17:17815988-17815989	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.2900C>G; p.S967C; 17:17814336-17814336	central_nervous_system; brain	glioma	Substitution - Missense
c.1466C>A; p.P489H; 17:17817724-17817724	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1466C>A; p.P489H; 17:17817724-17817724	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1256C>T; p.T419I; 17:17818277-17818277	central_nervous_system; brain	glioma	Substitution - Missense
c.2920A>G; p.I974V; 17:17814316-17814316	central_nervous_system; brain	glioma	Substitution - Missense
c.316C>G; p.P106A; 17:17820387-17820387	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.571C>T; p.P191S; 17:17820132-17820132	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1324G>A; p.V442M; 17:17817866-17817866	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3421A>G; p.M1141V; 17:17812735-17812735	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.317C>A; p.P106H; 17:17820386-17820386	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3062C>T; p.P1021L; 17:17813699-17813699	eye; uveal_tract	malignant_melanoma; spindle	Substitution - Missense
c.1251G>A; p.L417L; 17:17818282-17818282	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - coding silent
c.114T>G; p.G38G; 17:17823585-17823585	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.762T>C; p.P254P; 17:17819577-17819577	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1964G>A; p.C655Y; 17:17816630-17816630	kidney	other; neoplasm	Substitution - Missense
c.339T>A; p.L113L; 17:17820364-17820364	kidney	other; neoplasm	Substitution - coding silent
c.1024A>G; p.S342G; 17:17819147-17819147	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.424T>G; p.S142A; 17:17820279-17820279	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1268A>G; p.K423R; 17:17818265-17818265	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.263G>A; p.G88D; 17:17820440-17820440	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1824C>T; p.P608P; 17:17817009-17817009	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.688T>G; p.S230A; 17:17819651-17819651	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1377delC; p.S460fs*268; 17:17817813-17817813	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.881C>T; p.A294V; 17:17819375-17819375	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1300T>C; p.C434R; 17:17817890-17817890	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1909C>A; p.L637M; 17:17816685-17816685	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1252C>T; p.R418C; 17:17818281-17818281	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.433G>A; p.A145T; 17:17820270-17820270	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2086G>A; p.A696T; 17:17816508-17816508	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1096C>T; p.R366C; 17:17819075-17819075	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2002C>T; p.R668C; 17:17816592-17816592	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2995G>A; p.V999M; 17:17813766-17813766	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2171A>G; p.N724S; 17:17816340-17816340	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2142G>A; p.K714K; 17:17816369-17816369	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.421C>A; p.P141T; 17:17820282-17820282	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.746C>T; p.A249V; 17:17819593-17819593	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.531G>T; p.Q177H; 17:17820172-17820172	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1836C>T; p.F612F; 17:17816997-17816997	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3501C>T; p.R1167R; 17:17812655-17812655	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2806C>T; p.R936W; 17:17814634-17814634	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1180C>T; p.R394C; 17:17818353-17818353	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1158G>A; p.K386K; 17:17819013-17819013	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2216C>T; p.A739V; 17:17816295-17816295	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1631G>T; p.S544I; 17:17817321-17817321	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.486G>A; p.L162L; 17:17820217-17820217	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.486G>A; p.L162L; 17:17820217-17820217	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.486G>A; p.L162L; 17:17820217-17820217	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3464G>A; p.R1155H; 17:17812692-17812692	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2599C>T; p.L867F; 17:17814928-17814928	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2774A>G; p.E925G; 17:17814666-17814666	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2512C>T; p.H838Y; 17:17815291-17815291	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1791C>T; p.Y597Y; 17:17817042-17817042	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1434T>G; p.S478R; 17:17817756-17817756	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.114T>C; p.G38G; 17:17823585-17823585	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1874G>A; p.R625Q; 17:17816959-17816959	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2286G>T; p.R762R; 17:17816225-17816225	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1847G>A; p.R616H; 17:17816986-17816986	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2179C>T; p.L727L; 17:17816332-17816332	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1078G>A; p.A360T; 17:17819093-17819093	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1565C>T; p.T522M; 17:17817387-17817387	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1441G>A; p.G481S; 17:17817749-17817749	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.668C>T; p.P223L; 17:17819671-17819671	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.685G>A; p.V229I; 17:17819654-17819654	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.685G>A; p.V229I; 17:17819654-17819654	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1416C>T; p.S472S; 17:17817774-17817774	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.115A>G; p.R39G; 17:17823584-17823584	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.738C>G; p.V246V; 17:17819601-17819601	liver	carcinoma	Substitution - coding silent
c.495C>A; p.P165P; 17:17820208-17820208	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.2090G>A; p.R697Q; 17:17816504-17816504	liver	carcinoma	Substitution - Missense
c.2090G>A; p.R697Q; 17:17816504-17816504	liver	carcinoma	Substitution - Missense
c.131A>G; p.D44G; 17:17823568-17823568	liver	carcinoma	Substitution - Missense
c.2097A>C; p.A699A; 17:17816497-17816497	liver	carcinoma	Substitution - coding silent
c.2097A>C; p.A699A; 17:17816497-17816497	liver	carcinoma	Substitution - coding silent
c.3031C>T; p.R1011C; 17:17813730-17813730	liver	carcinoma	Substitution - Missense
c.3031C>T; p.R1011C; 17:17813730-17813730	liver	carcinoma	Substitution - Missense
c.521T>C; p.L174P; 17:17820182-17820182	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2304+6T>G; p.?; 17:17816201-17816201	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.2484G>T; p.L828L; 17:17815319-17815319	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.2755C>T; p.R919W; 17:17814685-17814685	liver	carcinoma	Substitution - Missense
c.2755C>T; p.R919W; 17:17814685-17814685	liver	carcinoma	Substitution - Missense
c.2304+4A>G; p.?; 17:17816203-17816203	liver	carcinoma	Unknown
c.2304+4A>G; p.?; 17:17816203-17816203	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.752C>T; p.T251M; 17:17819587-17819587	liver	carcinoma	Substitution - Missense
c.752C>T; p.T251M; 17:17819587-17819587	liver	carcinoma	Substitution - Missense
c.232G>T; p.D78Y; 17:17820471-17820471	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2572G>A; p.D858N; 17:17815231-17815231	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3420C>G; p.G1140G; 17:17812736-17812736	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1748A>G; p.N583S; 17:17817085-17817085	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2657G>A; p.S886N; 17:17814870-17814870	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1137G>T; p.L379L; 17:17819034-17819034	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.864C>T; p.D288D; 17:17819392-17819392	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1064G>T; p.R355L; 17:17819107-17819107	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3176G>A; p.R1059Q; 17:17813585-17813585	lung	carcinoid-endocrine_tumour; typical	Substitution - Missense
c.340G>C; p.E114Q; 17:17820363-17820363	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.745G>A; p.A249T; 17:17819594-17819594	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.811C>G; p.Q271E; 17:17819445-17819445	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1094A>G; p.Y365C; 17:17819077-17819077	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1117A>G; p.I373V; 17:17819054-17819054	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1180C>G; p.R394G; 17:17818353-17818353	ovary	other; neoplasm	Substitution - Missense
c.3326C>T; p.P1109L; 17:17812830-17812830	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.2582+10G>A; p.?; 17:17815211-17815211	pancreas	carcinoma	Unknown
c.1984A>G; p.I662V; 17:17816610-17816610	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1984A>G; p.I662V; 17:17816610-17816610	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3183_3184insC; p.M1062fs*8; 17:17813577-17813578	prostate	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1530G>A; p.R510R; 17:17817422-17817422	skin	malignant_melanoma	Substitution - coding silent
c.825C>T; p.I275I; 17:17819431-17819431	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1230C>T; p.L410L; 17:17818303-17818303	skin	malignant_melanoma	Substitution - coding silent
c.2367C>T; p.A789A; 17:17815966-17815966	skin	malignant_melanoma	Substitution - coding silent
c.523C>T; p.L175L; 17:17820180-17820180	skin	malignant_melanoma	Substitution - coding silent
c.1987C>T; p.R663C; 17:17816607-17816607	skin	malignant_melanoma	Substitution - Missense
c.440C>T; p.S147F; 17:17820263-17820263	skin	malignant_melanoma	Substitution - Missense
c.690C>T; p.S230S; 17:17819649-17819649	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1417C>T; p.L473F; 17:17817773-17817773	skin	malignant_melanoma	Substitution - Missense
c.3478G>A; p.D1160N; 17:17812678-17812678	skin	malignant_melanoma	Substitution - Missense
c.261G>A; p.G87G; 17:17820442-17820442	skin	malignant_melanoma	Substitution - coding silent
c.1699G>A; p.G567S; 17:17817134-17817134	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2362C>T; p.P788S; 17:17815971-17815971	skin	malignant_melanoma	Substitution - Missense
c.2138-7C>T; p.?; 17:17816380-17816380	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2621A>T; p.N874I; 17:17814906-17814906	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.449C>T; p.P150L; 17:17820254-17820254	skin	malignant_melanoma	Substitution - Missense
c.385C>T; p.P129S; 17:17820318-17820318	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1451G>A; p.G484D; 17:17817739-17817739	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3242C>T; p.T1081I; 17:17813430-17813430	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1825G>A; p.A609T; 17:17817008-17817008	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.782C>T; p.S261L; 17:17819557-17819557	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1409C>A; p.P470H; 17:17817781-17817781	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.423G>A; p.P141P; 17:17820280-17820280	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1052G>A; p.R351H; 17:17819119-17819119	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.432C>T; p.P144P; 17:17820271-17820271	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.368C>T; p.A123V; 17:17820335-17820335	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.669G>A; p.P223P; 17:17819670-17819670	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1440C>T; p.S480S; 17:17817750-17817750	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1566G>A; p.T522T; 17:17817386-17817386	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1851G>C; p.K617N; 17:17816982-17816982	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1097G>A; p.R366H; 17:17819074-17819074	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.419A>G; p.Y140C; 17:17820284-17820284	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1708T>C; p.W570R; 17:17817125-17817125	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2753G>A; p.R918Q; 17:17814687-17814687	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1252C>T; p.R418C; 17:17818281-17818281	thyroid	carcinoma	Substitution - Missense
c.232G>C; p.D78H; 17:17820471-17820471	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.232G>C; p.D78H; 17:17820471-17820471	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3152T>C; p.L1051P; 17:17813609-17813609	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3463C>G; p.R1155G; 17:17812693-17812693	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2473G>C; p.V825L; 17:17815860-17815860	urinary_tract; bladder	carcinoma	Substitution - Missense
c.368C>T; p.A123V; 17:17820335-17820335	urinary_tract; bladder	carcinoma	Substitution - Missense

Oncogene database

COSMIC confirmed somatic mutation [Top]

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