Entrez Gene

Basic Information
Gene ID	51780
Name	KDM3B
Synonymous	lysine (K)-specific demethylase 3B;KDM3B;lysine (K)-specific demethylase 3B
Definition	jmjC domain-containing histone demethylation protein 2B\|jumonji domain containing 1B\|jumonji domain-containing protein 1B\|lysine-specific demethylase 3B\|nuclear protein 5qNCA
Position	5q31
Gene Type	protein-coding
Mutation summary:	Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72

Mutation summary in protein domains

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Loss of Function mutations compare to missense mutations

Top

The ratio of the loss-of-function mutations over missense mutations is 0.13.

The copy number variations for various cancers

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.952G>A; p.E318K; 5:138386193-138386193	breast	carcinoma	Substitution - Missense
c.4976G>A; p.R1659H; 5:138430331-138430331	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5136C>T; p.H1712H; 5:138431490-138431490	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4976G>A; p.R1659H; 5:138430331-138430331	breast	carcinoma	Substitution - Missense
c.1553A>G; p.D518G; 5:138391185-138391185	liver	carcinoma	Substitution - Missense
c.1553A>G; p.D518G; 5:138391185-138391185	liver	carcinoma	Substitution - Missense
c.1263A>G; p.A421A; 5:138386504-138386504	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3489T>C; p.G1163G; 5:138419006-138419006	breast	carcinoma	Substitution - coding silent
c.5014G>A; p.A1672T; 5:138430369-138430369	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1060A>T; p.I354F; 5:138386301-138386301	breast	carcinoma	Substitution - Missense
c.4946A>G; p.D1649G; 5:138430301-138430301	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3489T>C; p.G1163G; 5:138419006-138419006	thyroid	other; neoplasm	Substitution - coding silent
c.3113T>G; p.L1038R; 5:138399926-138399926	liver	carcinoma	Substitution - Missense
c.3113T>G; p.L1038R; 5:138399926-138399926	liver	carcinoma	Substitution - Missense
c.4433G>T; p.G1478V; 5:138426996-138426996	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.723G>A; p.S241S; 5:138381533-138381533	skin	malignant_melanoma	Substitution - coding silent
c.1475C>G; p.S492C; 5:138391107-138391107	liver	carcinoma	Substitution - Missense
c.1475C>G; p.S492C; 5:138391107-138391107	liver	carcinoma	Substitution - Missense
c.1577T>G; p.F526C; 5:138391209-138391209	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4253C>T; p.S1418L; 5:138425424-138425424	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4253C>T; p.S1418L; 5:138425424-138425424	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4399G>A; p.E1467K; 5:138425570-138425570	skin	malignant_melanoma	Substitution - Missense
c.4399G>A; p.E1467K; 5:138425570-138425570	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4162G>T; p.G1388W; 5:138424264-138424264	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1961C>T; p.S654F; 5:138391593-138391593	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2148C>T; p.S716S; 5:138391780-138391780	skin	malignant_melanoma	Substitution - coding silent
c.679C>T; p.R227C; 5:138379682-138379682	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.350G>T; p.W117L; 5:138372831-138372831	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2180C>T; p.S727L; 5:138391812-138391812	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.555A>G; p.Q185Q; 5:138377800-138377800	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.777C>T; p.S259S; 5:138381587-138381587	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.249T>C; p.H83H; 5:138372730-138372730	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4483C>T; p.R1495*; 5:138427046-138427046	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4483C>T; p.R1495*; 5:138427046-138427046	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4483C>T; p.R1495*; 5:138427046-138427046	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2171G>A; p.R724H; 5:138391803-138391803	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.247C>T; p.H83Y; 5:138372728-138372728	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.436C>T; p.R146W; 5:138375168-138375168	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4917G>T; p.E1639D; 5:138430272-138430272	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3791C>T; p.A1264V; 5:138420781-138420781	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1554C>A; p.D518E; 5:138391186-138391186	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.758A>C; p.D253A; 5:138381568-138381568	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.248A>G; p.H83R; 5:138372729-138372729	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.248A>G; p.H83R; 5:138372729-138372729	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.248A>G; p.H83R; 5:138372729-138372729	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2890A>G; p.S964G; 5:138398236-138398236	pancreas	carcinoma	Substitution - Missense
c.248A>G; p.H83R; 5:138372729-138372729	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2351C>A; p.S784*; 5:138391983-138391983	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1873delC; p.K627fs*60; 5:138391505-138391505	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.248A>G; p.H83R; 5:138372729-138372729	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2255T>G; p.V752G; 5:138391887-138391887	kidney	carcinoma	Substitution - Missense
c.248A>G; p.H83R; 5:138372729-138372729	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.248A>G; p.H83R; 5:138372729-138372729	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2479delC; p.Q827fs*8; 5:138392111-138392111	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.3202A>G; p.T1068A; 5:138415134-138415134	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1449G>C; p.L483F; 5:138391081-138391081	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2054C>T; p.S685F; 5:138391686-138391686	skin	malignant_melanoma	Substitution - Missense
c.4249G>C; p.V1417L; 5:138425420-138425420	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2817C>A; p.F939L; 5:138393358-138393358	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4975C>T; p.R1659C; 5:138430330-138430330	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1878C>A; p.P626P; 5:138391510-138391510	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3517C>T; p.P1173S; 5:138419034-138419034	skin	malignant_melanoma	Substitution - Missense
c.2689C>T; p.P897S; 5:138393230-138393230	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.703G>A; p.E235K; 5:138379706-138379706	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1178C>T; p.P393L; 5:138386419-138386419	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.703G>A; p.E235K; 5:138379706-138379706	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5065C>T; p.H1689Y; 5:138430420-138430420	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.900G>C; p.K300N; 5:138386141-138386141	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.961C>T; p.R321*; 5:138386202-138386202	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5065C>T; p.H1689Y; 5:138430420-138430420	haematopoietic_and_lymphoid_tissue; abdomen	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.3631C>T; p.P1211S; 5:138419148-138419148	skin	malignant_melanoma	Substitution - Missense
c.1079C>T; p.T360I; 5:138386320-138386320	skin	malignant_melanoma	Substitution - Missense
c.3981G>C; p.K1327N; 5:138424083-138424083	breast	carcinoma	Substitution - Missense
c.4130A>C; p.D1377A; 5:138424232-138424232	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.1079C>T; p.T360I; 5:138386320-138386320	skin	malignant_melanoma	Substitution - Missense
c.1228C>A; p.L410M; 5:138386469-138386469	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2860C>T; p.R954C; 5:138398206-138398206	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2512C>T; p.P838S; 5:138392144-138392144	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1660C>T; p.R554W; 5:138391292-138391292	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1660C>T; p.R554W; 5:138391292-138391292	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2860C>T; p.R954C; 5:138398206-138398206	skin	malignant_melanoma	Substitution - Missense
c.3090_3091insTA; p.C1031fs*51; 5:138399903-138399904	liver	carcinoma	Insertion - Frameshift
c.2883C>T; p.P961P; 5:138398229-138398229	skin	malignant_melanoma	Substitution - coding silent
c.1447T>G; p.L483V; 5:138391079-138391079	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1897C>T; p.P633S; 5:138391529-138391529	skin	malignant_melanoma	Substitution - Missense
c.2551C>T; p.R851C; 5:138392183-138392183	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2792A>G; p.D931G; 5:138393333-138393333	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2337C>T; p.S779S; 5:138391969-138391969	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4398C>T; p.F1466F; 5:138425569-138425569	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1087A>C; p.N363H; 5:138386328-138386328	skin	malignant_melanoma	Substitution - Missense
c.2813G>T; p.R938L; 5:138393354-138393354	prostate	carcinoma	Substitution - Missense
c.3929A>G; p.D1310G; 5:138420919-138420919	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2495C>T; p.T832I; 5:138392127-138392127	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2404C>T; p.R802*; 5:138392036-138392036	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3003C>T; p.L1001L; 5:138398349-138398349	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1573T>C; p.L525L; 5:138391205-138391205	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2404C>T; p.R802*; 5:138392036-138392036	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3188G>A; p.R1063Q; 5:138400001-138400001	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1789T>A; p.S597T; 5:138391421-138391421	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4503-1G>A; p.?; 5:138427188-138427188	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Unknown
c.237G>A; p.W79*; 5:138372718-138372718	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.237G>A; p.W79*; 5:138372718-138372718	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2597C>A; p.P866H; 5:138392229-138392229	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.460T>C; p.L154L; 5:138375192-138375192	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5051C>T; p.P1684L; 5:138430406-138430406	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5051C>T; p.P1684L; 5:138430406-138430406	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4739G>T; p.G1580V; 5:138428072-138428072	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3881G>A; p.R1294Q; 5:138420871-138420871	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2094C>T; p.S698S; 5:138391726-138391726	skin	malignant_melanoma	Substitution - coding silent
c.294G>T; p.W98C; 5:138372775-138372775	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4594G>T; p.V1532L; 5:138427280-138427280	kidney	other; neoplasm	Substitution - Missense
c.3691C>T; p.Q1231*; 5:138419208-138419208	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.534T>C; p.V178V; 5:138377779-138377779	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - coding silent
c.1757G>T; p.G586V; 5:138391389-138391389	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1497G>A; p.E499E; 5:138391129-138391129	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1794G>C; p.M598I; 5:138391426-138391426	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.235T>C; p.W79R; 5:138372716-138372716	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3911T>A; p.L1304H; 5:138420901-138420901	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.855G>C; p.R285R; 5:138386096-138386096	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.712G>A; p.E238K; 5:138381522-138381522	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1151C>T; p.P384L; 5:138386392-138386392	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3652C>G; p.P1218A; 5:138419169-138419169	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1273A>C; p.T425P; 5:138386514-138386514	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3946delC; p.P1317fs*10; 5:138420936-138420936	thyroid	carcinoma; anaplastic_carcinoma	Deletion - Frameshift
c.4212C>A; p.I1404I; 5:138424314-138424314	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5242G>A; p.V1748I; 5:138435656-138435656	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3946delC; p.P1317fs*10; 5:138420936-138420936	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.583C>T; p.P195S; 5:138379586-138379586	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2611C>A; p.R871R; 5:138392243-138392243	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4583C>G; p.P1528R; 5:138427269-138427269	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3015G>A; p.E1005E; 5:138398361-138398361	skin	malignant_melanoma	Substitution - coding silent
c.4988A>G; p.Y1663C; 5:138430343-138430343	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2493G>A; p.K831K; 5:138392125-138392125	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.1489G>A; p.A497T; 5:138391121-138391121	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1609A>C; p.S537R; 5:138391241-138391241	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1127G>T; p.G376V; 5:138386368-138386368	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.795A>T; p.K265N; 5:138386036-138386036	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2628A>T; p.K876N; 5:138392260-138392260	liver	carcinoma	Substitution - Missense
c.795A>T; p.K265N; 5:138386036-138386036	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.3149T>C; p.F1050S; 5:138399962-138399962	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1260C>T; p.S420S; 5:138386501-138386501	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4249G>T; p.V1417F; 5:138425420-138425420	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1861C>A; p.L621I; 5:138391493-138391493	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4626C>T; p.N1542N; 5:138427312-138427312	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.269T>A; p.L90H; 5:138372750-138372750	central_nervous_system; brain	glioma	Substitution - Missense
c.1042C>T; p.P348S; 5:138386283-138386283	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.340A>T; p.I114F; 5:138372821-138372821	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3046+1G>A; p.?; 5:138398393-138398393	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.4619T>C; p.M1540T; 5:138427305-138427305	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2318C>G; p.S773*; 5:138391950-138391950	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4808T>G; p.I1603S; 5:138429880-138429880	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2776A>G; p.K926E; 5:138393317-138393317	pancreas	carcinoma	Substitution - Missense
c.2776A>G; p.K926E; 5:138393317-138393317	pancreas	carcinoma	Substitution - Missense
c.2054C>A; p.S685Y; 5:138391686-138391686	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4693G>C; p.D1565H; 5:138428026-138428026	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1361G>C; p.R454P; 5:138386602-138386602	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.976G>A; p.G326R; 5:138386217-138386217	liver	carcinoma	Substitution - Missense
c.1426C>T; p.L476F; 5:138391058-138391058	skin	malignant_melanoma	Substitution - Missense
c.3988G>A; p.A1330T; 5:138424090-138424090	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3939A>G; p.I1313M; 5:138420929-138420929	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3988G>A; p.A1330T; 5:138424090-138424090	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3340G>A; p.A1114T; 5:138417515-138417515	breast	carcinoma	Substitution - Missense
c.3899G>T; p.G1300V; 5:138420889-138420889	kidney	carcinoma; renal_cell_carcinoma	Substitution - Missense
c.3238T>C; p.L1080L; 5:138415170-138415170	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2299delA; p.N767fs*28; 5:138391931-138391931	liver	carcinoma	Deletion - Frameshift
c.2624T>C; p.L875P; 5:138392256-138392256	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.351G>A; p.W117*; 5:138372832-138372832	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.577C>T; p.R193*; 5:138377822-138377822	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4828C>A; p.P1610T; 5:138429900-138429900	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5025G>T; p.Q1675H; 5:138430380-138430380	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1399C>A; p.L467M; 5:138391031-138391031	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5025G>T; p.Q1675H; 5:138430380-138430380	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.350_351GG>AT; p.W117Y; 5:138372831-138372832	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2623C>A; p.L875M; 5:138392255-138392255	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1378G>A; p.E460K; 5:138386619-138386619	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.538G>T; p.A180S; 5:138377783-138377783	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1664delA; p.D555fs*10; 5:138391296-138391296	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1378G>A; p.E460K; 5:138386619-138386619	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.236G>T; p.W79L; 5:138372717-138372717	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2821C>T; p.H941Y; 5:138393362-138393362	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2070A>G; p.K690K; 5:138391702-138391702	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2070A>G; p.K690K; 5:138391702-138391702	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2181G>A; p.S727S; 5:138391813-138391813	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2070A>G; p.K690K; 5:138391702-138391702	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4414C>T; p.R1472*; 5:138426977-138426977	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1192G>A; p.V398M; 5:138386433-138386433	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1661G>A; p.R554Q; 5:138391293-138391293	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3073C>T; p.R1025C; 5:138399886-138399886	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3073C>T; p.R1025C; 5:138399886-138399886	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3073C>T; p.R1025C; 5:138399886-138399886	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2832-5C>G; p.?; 5:138398173-138398173	liver	carcinoma	Unknown
c.4463G>T; p.W1488L; 5:138427026-138427026	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.3525G>A; p.P1175P; 5:138419042-138419042	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2544T>C; p.N848N; 5:138392176-138392176	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4378C>T; p.R1460W; 5:138425549-138425549	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4378C>T; p.R1460W; 5:138425549-138425549	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4378C>T; p.R1460W; 5:138425549-138425549	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3158G>T; p.C1053F; 5:138399971-138399971	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4378C>T; p.R1460W; 5:138425549-138425549	skin	malignant_melanoma	Substitution - Missense
c.2994_3001delCTGCCAGC; p.C999fs*4; 5:138398340-138398347	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3059G>A; p.W1020*; 5:138399872-138399872	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.5274G>A; p.L1758L; 5:138435688-138435688	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.3472G>A; p.E1158K; 5:138418989-138418989	skin	malignant_melanoma	Substitution - Missense
c.1189G>C; p.E397Q; 5:138386430-138386430	breast	carcinoma	Substitution - Missense
c.4330G>T; p.D1444Y; 5:138425501-138425501	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3972+9C>G; p.?; 5:138420971-138420971	soft_tissue; striated_muscle	rhabdomyosarcoma; alveolar	Unknown
c.309C>T; p.D103D; 5:138372790-138372790	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.849T>C; p.D283D; 5:138386090-138386090	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4330G>T; p.D1444Y; 5:138425501-138425501	large_intestine; colon	carcinoma	Substitution - Missense
c.5160C>T; p.F1720F; 5:138431514-138431514	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1918T>C; p.F640L; 5:138391550-138391550	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2699A>G; p.Q900R; 5:138393240-138393240	ovary	other; neoplasm	Substitution - Missense
c.946G>T; p.G316*; 5:138386187-138386187	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4110G>T; p.V1370V; 5:138424212-138424212	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2699A>G; p.Q900R; 5:138393240-138393240	ovary	other; neoplasm	Substitution - Missense
c.3886C>A; p.L1296I; 5:138420876-138420876	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5096A>C; p.K1699T; 5:138431450-138431450	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.2543A>G; p.N848S; 5:138392175-138392175	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma	Substitution - Missense
c.1966G>T; p.A656S; 5:138391598-138391598	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2543A>G; p.N848S; 5:138392175-138392175	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1374G>T; p.S458S; 5:138386615-138386615	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1006G>T; p.D336Y; 5:138386247-138386247	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1809A>T; p.P603P; 5:138391441-138391441	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3265G>A; p.E1089K; 5:138415197-138415197	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1809A>T; p.P603P; 5:138391441-138391441	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.3848C>T; p.A1283V; 5:138420838-138420838	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2927C>T; p.S976F; 5:138398273-138398273	skin	malignant_melanoma	Substitution - Missense
c.2813G>A; p.R938H; 5:138393354-138393354	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3933A>G; p.T1311T; 5:138420923-138420923	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3363A>C; p.K1121N; 5:138417538-138417538	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2302G>A; p.V768I; 5:138391934-138391934	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2813G>A; p.R938H; 5:138393354-138393354	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3385C>T; p.R1129*; 5:138417560-138417560	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3726C>T; p.S1242S; 5:138420716-138420716	skin	malignant_melanoma	Substitution - coding silent
c.3749A>G; p.E1250G; 5:138420739-138420739	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4435C>T; p.Q1479*; 5:138426998-138426998	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.654T>C; p.V218V; 5:138379657-138379657	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4504T>C; p.F1502L; 5:138427190-138427190	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2369C>T; p.P790L; 5:138392001-138392001	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3941C>T; p.P1314L; 5:138420931-138420931	skin	malignant_melanoma	Substitution - Missense
c.2743C>T; p.R915C; 5:138393284-138393284	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2743C>T; p.R915C; 5:138393284-138393284	liver	carcinoma	Substitution - Missense
c.4346G>T; p.R1449M; 5:138425517-138425517	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2743C>T; p.R915C; 5:138393284-138393284	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1763C>T; p.S588F; 5:138391395-138391395	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5039C>T; p.A1680V; 5:138430394-138430394	skin	malignant_melanoma	Substitution - Missense
c.3013G>C; p.E1005Q; 5:138398359-138398359	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3013G>C; p.E1005Q; 5:138398359-138398359	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4347G>C; p.R1449S; 5:138425518-138425518	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3724T>G; p.S1242A; 5:138420714-138420714	skin	malignant_melanoma	Substitution - Missense
c.2076C>T; p.L692L; 5:138391708-138391708	skin	malignant_melanoma	Substitution - coding silent
c.532G>T; p.V178F; 5:138377777-138377777	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3193C>T; p.R1065C; 5:138400006-138400006	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1355G>A; p.G452D; 5:138386596-138386596	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4398delC; p.F1466fs*32; 5:138425569-138425569	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.2345_2346insG; p.D782fs*11; 5:138391977-138391978	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1458A>G; p.G486G; 5:138391090-138391090	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1702C>T; p.L568L; 5:138391334-138391334	skin	malignant_melanoma	Substitution - coding silent
c.1445C>A; p.P482H; 5:138391077-138391077	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4272C>T; p.L1424L; 5:138425443-138425443	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.4934A>T; p.D1645V; 5:138430289-138430289	liver	carcinoma	Substitution - Missense
c.4934A>T; p.D1645V; 5:138430289-138430289	liver	carcinoma	Substitution - Missense
c.277G>A; p.E93K; 5:138372758-138372758	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5240C>T; p.A1747V; 5:138435654-138435654	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5008G>A; p.G1670S; 5:138430363-138430363	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3146G>A; p.G1049E; 5:138399959-138399959	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.4428A>C; p.E1476D; 5:138426991-138426991	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2405G>A; p.R802Q; 5:138392037-138392037	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3560G>A; p.R1187K; 5:138419077-138419077	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1177C>T; p.P393S; 5:138386418-138386418	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.2256G>T; p.V752V; 5:138391888-138391888	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1907C>T; p.P636L; 5:138391539-138391539	skin	malignant_melanoma	Substitution - Missense
c.3119A>G; p.N1040S; 5:138399932-138399932	stomach	adenocarcinoma	Substitution - Missense
c.778G>A; p.E260K; 5:138381588-138381588	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2218A>T; p.T740S; 5:138391850-138391850	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1894G>C; p.E632Q; 5:138391526-138391526	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2767C>T; p.R923W; 5:138393308-138393308	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5276C>T; p.A1759V; 5:138435690-138435690	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.671C>T; p.S224F; 5:138379674-138379674	skin	malignant_melanoma	Substitution - Missense
c.841G>T; p.G281W; 5:138386082-138386082	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1906C>T; p.P636S; 5:138391538-138391538	skin	malignant_melanoma	Substitution - Missense
c.1698A>G; p.S566S; 5:138391330-138391330	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4402A>T; p.I1468F; 5:138425573-138425573	skin	malignant_melanoma	Substitution - Missense
c.2715C>T; p.I905I; 5:138393256-138393256	liver	carcinoma	Substitution - coding silent
c.2080A>G; p.I694V; 5:138391712-138391712	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2301C>T; p.N767N; 5:138391933-138391933	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2715C>T; p.I905I; 5:138393256-138393256	liver	carcinoma	Substitution - coding silent
c.4888C>T; p.R1630*; 5:138429960-138429960	skin	malignant_melanoma	Substitution - Nonsense
c.3076G>T; p.G1026C; 5:138399889-138399889	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.3519A>G; p.P1173P; 5:138419036-138419036	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1179T>C; p.P393P; 5:138386420-138386420	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3082C>T; p.R1028W; 5:138399895-138399895	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1179T>C; p.P393P; 5:138386420-138386420	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3082C>T; p.R1028W; 5:138399895-138399895	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2340G>A; p.P780P; 5:138391972-138391972	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2340G>A; p.P780P; 5:138391972-138391972	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1013G>C; p.R338T; 5:138386254-138386254	breast	carcinoma	Substitution - Missense
c.4216C>T; p.R1406W; 5:138424318-138424318	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.722C>T; p.S241L; 5:138381532-138381532	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1804delA; p.T602fs*9; 5:138391436-138391436	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.681T>C; p.R227R; 5:138379684-138379684	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.1874C>T; p.P625L; 5:138391506-138391506	skin	malignant_melanoma	Substitution - Missense
c.5257G>A; p.A1753T; 5:138435671-138435671	breast	carcinoma	Substitution - Missense
c.3194G>A; p.R1065H; 5:138400007-138400007	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4382A>G; p.D1461G; 5:138425553-138425553	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3118A>G; p.N1040D; 5:138399931-138399931	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.910G>A; p.G304R; 5:138386151-138386151	bone; humerus	chondrosarcoma	Substitution - Missense
c.1376G>A; p.G459E; 5:138386617-138386617	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4864G>A; p.A1622T; 5:138429936-138429936	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1667C>T; p.S556L; 5:138391299-138391299	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.714G>A; p.E238E; 5:138381524-138381524	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4731C>T; p.I1577I; 5:138428064-138428064	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1633G>C; p.E545Q; 5:138391265-138391265	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.963A>G; p.R321R; 5:138386204-138386204	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3820T>G; p.F1274V; 5:138420810-138420810	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.853C>T; p.R285W; 5:138386094-138386094	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2133C>T; p.T711T; 5:138391765-138391765	skin	malignant_melanoma	Substitution - coding silent
c.1593C>T; p.S531S; 5:138391225-138391225	skin	malignant_melanoma	Substitution - coding silent
c.3942C>T; p.P1314P; 5:138420932-138420932	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2110G>A; p.G704S; 5:138391742-138391742	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1769A>C; p.D590A; 5:138391401-138391401	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5143C>T; p.R1715C; 5:138431497-138431497	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense

Mutation summary in protein domains

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The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

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Loss of Function mutations compare to missense mutations

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The copy number variations for various cancers

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COSMIC somatic mutation [Top]