Entrez Gene

Basic Information
Gene ID	8553
Name	BHLHE40

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
The somatic mutations from COSMIC database
c.1151C>T; p.P384L; 3:4983604-4983604	skin	malignant_melanoma	Substitution - Missense
c.339G>T; p.Q113H; 3:4981472-4981472	pancreas	carcinoma	Substitution - Missense
c.727A>G; p.S243G; 3:4983180-4983180	liver	carcinoma	Substitution - Missense
c.727A>G; p.S243G; 3:4983180-4983180	liver	carcinoma	Substitution - Missense
c.884C>T; p.S295L; 3:4983337-4983337	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.623C>T; p.P208L; 3:4983076-4983076	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - Missense
c.232C>T; p.L78F; 3:4980382-4980382	liver	carcinoma	Substitution - Missense
c.232C>T; p.L78F; 3:4980382-4980382	liver	carcinoma	Substitution - Missense
c.1048G>A; p.V350M; 3:4983501-4983501	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1048G>C; p.V350L; 3:4983501-4983501	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.255T>G; p.L85L; 3:4980405-4980405	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.995C>T; p.A332V; 3:4983448-4983448	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.332T>C; p.I111T; 3:4981465-4981465	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.539C>A; p.S180*; 3:4982992-4982992	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Nonsense
c.757G>A; p.D253N; 3:4983210-4983210	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.872G>A; p.R291Q; 3:4983325-4983325	NS	malignant_melanoma	Substitution - Missense
c.872G>A; p.R291Q; 3:4983325-4983325	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.872G>A; p.R291Q; 3:4983325-4983325	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.832A>C; p.I278L; 3:4983285-4983285	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.181G>A; p.E61K; 3:4980331-4980331	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1235A>C; p.D412A; 3:4983688-4983688	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.151G>A; p.E51K; 3:4980301-4980301	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.622C>G; p.P208A; 3:4983075-4983075	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.751A>T; p.K251*; 3:4983204-4983204	liver	carcinoma	Substitution - Nonsense
c.751A>T; p.K251*; 3:4983204-4983204	liver	carcinoma	Substitution - Nonsense
c.633T>C; p.G211G; 3:4983086-4983086	thyroid	other; neoplasm	Substitution - coding silent
c.265G>T; p.G89C; 3:4981398-4981398	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1012A>G; p.M338V; 3:4983465-4983465	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1162C>T; p.H388Y; 3:4983615-4983615	urinary_tract; bladder	carcinoma	Substitution - Missense
c.829G>A; p.A277T; 3:4983282-4983282	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.937G>T; p.G313C; 3:4983390-4983390	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.800G>A; p.R267H; 3:4983253-4983253	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1143C>T; p.L381L; 3:4983596-4983596	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.993A>T; p.S331S; 3:4983446-4983446	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.9G>A; p.R3R; 3:4979727-4979727	breast	carcinoma	Substitution - coding silent
c.342G>A; p.Q114Q; 3:4981475-4981475	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.135_137GAG>AAA; p.S46N; 3:4980016-4980018	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.135_137GAG>AAA; p.S46N; 3:4980016-4980018	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.606G>A; p.K202K; 3:4983059-4983059	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.673C>T; p.R225W; 3:4983126-4983126	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1105G>T; p.D369Y; 3:4983558-4983558	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1058_1059insAA; p.G354fs*14; 3:4983511-4983512	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.1150C>A; p.P384T; 3:4983603-4983603	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.490C>G; p.R164G; 3:4982943-4982943	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.139G>A; p.E47K; 3:4980020-4980020	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.139G>A; p.E47K; 3:4980020-4980020	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1034C>T; p.P345L; 3:4983487-4983487	skin; extremity	malignant_melanoma	Substitution - Missense
c.506C>T; p.S169L; 3:4982959-4982959	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.167C>T; p.P56L; 3:4980317-4980317	liver	carcinoma	Substitution - Missense
c.167C>T; p.P56L; 3:4980317-4980317	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.250A>G; p.K84E; 3:4980400-4980400	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.291T>C; p.L97L; 3:4981424-4981424	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1001C>T; p.A334V; 3:4983454-4983454	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.905C>T; p.T302I; 3:4983358-4983358	liver	carcinoma	Substitution - Missense
c.905C>T; p.T302I; 3:4983358-4983358	liver	carcinoma	Substitution - Missense
c.734A>G; p.Y245C; 3:4983187-4983187	liver	carcinoma	Substitution - Missense
c.734A>G; p.Y245C; 3:4983187-4983187	liver	carcinoma	Substitution - Missense
c.452G>A; p.R151Q; 3:4982905-4982905	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.970C>G; p.P324A; 3:4983423-4983423	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1088C>G; p.S363C; 3:4983541-4983541	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.825C>T; p.I275I; 3:4983278-4983278	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1086C>A; p.L362L; 3:4983539-4983539	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1080A>G; p.A360A; 3:4983533-4983533	pancreas	carcinoma	Substitution - coding silent
c.1144C>T; p.P382S; 3:4983597-4983597	skin	malignant_melanoma	Substitution - Missense
c.344_352delAGCAGAAAA; p.Q115_I118>L; 3:4981477-4981485	breast	carcinoma	Complex - deletion inframe
c.1077C>T; p.A359A; 3:4983530-4983530	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent

The somatic mutations from COSMIC database