Entrez Gene

Basic Information
Gene ID	9821
Name	RB1CC1
Synonymous	RB1-inducible coiled-coil 1;RB1CC1;RB1-inducible coiled-coil 1
Definition	200 kDa FAK family kinase-interacting protein\|FAK family kinase-interacting protein of 200 kDa\|RB1-inducible coiled-coil protein 1\|phosphatase 1, regulatory subunit 131
Position	8q11
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 0.23.

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.12T>A; p.Y4*; 8:52685458-52685458	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4448A>T; p.Q1483L; 8:52630521-52630521	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.946G>C; p.D316H; 8:52673901-52673901	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1021C>T; p.R341*; 8:52668173-52668173	skin	malignant_melanoma	Substitution - Nonsense
c.953C>T; p.P318L; 8:52673894-52673894	skin	malignant_melanoma	Substitution - Missense
c.3294A>G; p.E1098E; 8:52656535-52656535	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2465T>G; p.F822C; 8:52657364-52657364	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4596A>G; p.S1532S; 8:52628072-52628072	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4257T>A; p.G1419G; 8:52642431-52642431	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1449C>A; p.V483V; 8:52661191-52661191	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3910G>T; p.E1304*; 8:52645779-52645779	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1625T>G; p.F542C; 8:52660928-52660928	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2830C>G; p.Q944E; 8:52656999-52656999	central_nervous_system; brain	glioma	Substitution - Missense
c.3616G>A; p.E1206K; 8:52656213-52656213	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.679G>C; p.E227Q; 8:52674168-52674168	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2615_2616insA; p.N872fs*2; 8:52657213-52657214	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.853A>G; p.T285A; 8:52673994-52673994	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.853A>G; p.T285A; 8:52673994-52673994	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2633T>G; p.L878R; 8:52657196-52657196	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.102C>T; p.S34S; 8:52683983-52683983	skin	malignant_melanoma	Substitution - coding silent
c.900T>A; p.D300E; 8:52673947-52673947	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.401C>T; p.S134F; 8:52676540-52676540	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.40C>G; p.L14V; 8:52685430-52685430	oesophagus	carcinoma	Substitution - Missense
c.1648C>T; p.R550C; 8:52660637-52660637	skin; mucosal	malignant_melanoma	Substitution - Missense
c.3050T>A; p.L1017*; 8:52656779-52656779	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.4124G>A; p.R1375Q; 8:52642564-52642564	skin	malignant_melanoma	Substitution - Missense
c.661G>A; p.D221N; 8:52674186-52674186	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.4511G>C; p.G1504A; 8:52628157-52628157	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4159G>T; p.E1387*; 8:52642529-52642529	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.2751A>G; p.K917K; 8:52657078-52657078	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.853A>T; p.T285S; 8:52673994-52673994	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.641G>C; p.R214T; 8:52674206-52674206	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2885T>A; p.L962*; 8:52656944-52656944	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.3055A>C; p.K1019Q; 8:52656774-52656774	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1683C>T; p.S561S; 8:52660602-52660602	skin	malignant_melanoma	Substitution - coding silent
c.193G>C; p.G65R; 8:52683892-52683892	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2618A>T; p.E873V; 8:52657211-52657211	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1246C>T; p.H416Y; 8:52661647-52661647	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4289delA; p.D1430fs*13; 8:52642399-52642399	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.199-2A>C; p.?; 8:52683721-52683721	breast	carcinoma	Unknown
c.1361G>A; p.W454*; 8:52661279-52661279	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.775C>T; p.P259S; 8:52674072-52674072	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1377G>C; p.M459I; 8:52661263-52661263	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1941C>T; p.S647S; 8:52657888-52657888	skin	malignant_melanoma	Substitution - coding silent
c.3614_3615insA; p.Y1205fs*1; 8:52656214-52656215	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2335G>A; p.D779N; 8:52657494-52657494	central_nervous_system; brain	glioma	Substitution - Missense
c.278C>T; p.S93L; 8:52683640-52683640	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1194G>A; p.K398K; 8:52661699-52661699	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.278C>T; p.S93L; 8:52683640-52683640	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1174G>T; p.G392*; 8:52661719-52661719	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4738A>G; p.T1580A; 8:52623829-52623829	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1194G>A; p.K398K; 8:52661699-52661699	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.279G>A; p.S93S; 8:52683639-52683639	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.947A>G; p.D316G; 8:52673900-52673900	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3621T>C; p.A1207A; 8:52656208-52656208	breast	carcinoma	Substitution - coding silent
c.3439G>T; p.E1147*; 8:52656390-52656390	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.543C>A; p.S181S; 8:52676398-52676398	breast	carcinoma	Substitution - coding silent
c.2641C>A; p.L881I; 8:52657188-52657188	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2312C>T; p.A771V; 8:52657517-52657517	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2312C>T; p.A771V; 8:52657517-52657517	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2312C>T; p.A771V; 8:52657517-52657517	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2312C>T; p.A771V; 8:52657517-52657517	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2312C>T; p.A771V; 8:52657517-52657517	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3819A>G; p.K1273K; 8:52656010-52656010	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.4161A>G; p.E1387E; 8:52642527-52642527	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3073A>C; p.I1025L; 8:52656756-52656756	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4161A>G; p.E1387E; 8:52642527-52642527	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.529A>C; p.N177H; 8:52676412-52676412	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1617G>A; p.G539G; 8:52660936-52660936	prostate	carcinoma	Substitution - coding silent
c.4755G>A; p.V1585V; 8:52623812-52623812	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4164A>G; p.E1388E; 8:52642524-52642524	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.169C>T; p.R57*; 8:52683916-52683916	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.169C>T; p.R57*; 8:52683916-52683916	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4164A>G; p.E1388E; 8:52642524-52642524	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4164A>G; p.E1388E; 8:52642524-52642524	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1081G>T; p.A361S; 8:52668113-52668113	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.3541A>C; p.S1181R; 8:52656288-52656288	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1081G>T; p.A361S; 8:52668113-52668113	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.660G>C; p.L220L; 8:52674187-52674187	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3391A>G; p.I1131V; 8:52656438-52656438	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3512_3513insA; p.N1171fs*8; 8:52656316-52656317	lung	carcinoma; small_cell_carcinoma	Insertion - Frameshift
c.4151A>C; p.K1384T; 8:52642537-52642537	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.4201C>T; p.P1401S; 8:52642487-52642487	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.428A>C; p.E143A; 8:52676513-52676513	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4698A>G; p.Q1566Q; 8:52624726-52624726	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2327G>A; p.R776Q; 8:52657502-52657502	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2096C>T; p.T699M; 8:52657733-52657733	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2096C>T; p.T699M; 8:52657733-52657733	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1102C>A; p.R368R; 8:52668092-52668092	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3922G>A; p.E1308K; 8:52645767-52645767	breast	carcinoma	Substitution - Missense
c.2327G>A; p.R776Q; 8:52657502-52657502	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2096C>T; p.T699M; 8:52657733-52657733	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1102C>A; p.R368R; 8:52668092-52668092	thyroid	carcinoma	Substitution - coding silent
c.3930A>G; p.E1310E; 8:52645759-52645759	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2891delA; p.K964fs*13; 8:52656938-52656938	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1566A>G; p.K522K; 8:52660987-52660987	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2891delA; p.K964fs*13; 8:52656938-52656938	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4087C>T; p.R1363W; 8:52642713-52642713	pancreas	carcinoma	Substitution - Missense
c.57A>G; p.E19E; 8:52685413-52685413	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4761C>T; p.A1587A; 8:52623806-52623806	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.917T>A; p.V306D; 8:52673930-52673930	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.757T>C; p.S253P; 8:52674090-52674090	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2839G>A; p.E947K; 8:52656990-52656990	NS	malignant_melanoma	Substitution - Missense
c.2839G>A; p.E947K; 8:52656990-52656990	NS	malignant_melanoma	Substitution - Missense
c.3428G>C; p.R1143T; 8:52656401-52656401	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.252A>G; p.P84P; 8:52683666-52683666	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2436A>T; p.I812I; 8:52657393-52657393	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1141C>T; p.R381*; 8:52668053-52668053	skin	malignant_melanoma	Substitution - Nonsense
c.3000A>G; p.I1000M; 8:52656829-52656829	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1726G>C; p.D576H; 8:52658940-52658940	prostate	carcinoma	Substitution - Missense
c.1666G>A; p.D556N; 8:52660619-52660619	pancreas	carcinoma	Substitution - Missense
c.1666G>A; p.D556N; 8:52660619-52660619	pancreas	carcinoma	Substitution - Missense
c.4083A>G; p.Q1361Q; 8:52642717-52642717	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.3821+2T>A; p.?; 8:52656006-52656006	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.3838A>G; p.T1280A; 8:52645851-52645851	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.3935G>T; p.R1312I; 8:52645754-52645754	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.442C>T; p.Q148*; 8:52676499-52676499	skin	malignant_melanoma	Substitution - Nonsense
c.1666G>A; p.D556N; 8:52660619-52660619	pancreas	carcinoma	Substitution - Missense
c.733G>C; p.D245H; 8:52674114-52674114	breast	carcinoma	Substitution - Missense
c.4742A>C; p.K1581T; 8:52623825-52623825	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2382G>A; p.L794L; 8:52657447-52657447	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.4565C>G; p.T1522S; 8:52628103-52628103	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1772C>T; p.S591L; 8:52658894-52658894	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2989G>A; p.V997I; 8:52656840-52656840	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2537A>G; p.N846S; 8:52657292-52657292	breast	carcinoma	Substitution - Missense
c.3067C>T; p.Q1023*; 8:52656762-52656762	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Nonsense
c.1565A>G; p.K522R; 8:52660988-52660988	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.701T>C; p.M234T; 8:52674146-52674146	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.726C>T; p.L242L; 8:52674121-52674121	skin	malignant_melanoma	Substitution - coding silent
c.1565A>G; p.K522R; 8:52660988-52660988	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.732T>C; p.P244P; 8:52674115-52674115	breast	carcinoma	Substitution - coding silent
c.1885T>G; p.S629A; 8:52658033-52658033	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3274C>T; p.L1092F; 8:52656555-52656555	skin	malignant_melanoma	Substitution - Missense
c.2527G>C; p.E843Q; 8:52657302-52657302	NS	NS	Substitution - Missense
c.759T>G; p.S253S; 8:52674088-52674088	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.211A>T; p.I71F; 8:52683707-52683707	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3194C>T; p.A1065V; 8:52656635-52656635	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1043G>A; p.R348H; 8:52668151-52668151	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4441-3_4441-2insT; p.?; 8:52630530-52630531	central_nervous_system; brainstem	glioma; astrocytoma_Grade_IV	Unknown
c.566T>G; p.L189R; 8:52676375-52676375	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1553G>C; p.G518A; 8:52661000-52661000	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3795A>G; p.K1265K; 8:52656034-52656034	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4597G>A; p.E1533K; 8:52628071-52628071	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.4441-3delT; p.?; 8:52630531-52630531	central_nervous_system; brain	glioma; oligoastrocytoma	Unknown
c.4441-3delT; p.?; 8:52630531-52630531	liver	carcinoma	Unknown
c.1574A>C; p.K525T; 8:52660979-52660979	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4441-3delT; p.?; 8:52630531-52630531	liver	carcinoma	Unknown
c.4597G>A; p.E1533K; 8:52628071-52628071	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4163A>G; p.E1388G; 8:52642525-52642525	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.287A>G; p.N96S; 8:52683631-52683631	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4340A>G; p.E1447G; 8:52636067-52636067	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1939T>C; p.S647P; 8:52657890-52657890	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.248G>A; p.R83H; 8:52683670-52683670	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2364T>C; p.F788F; 8:52657465-52657465	NS	NS	Substitution - coding silent
c.1482G>T; p.Q494H; 8:52661158-52661158	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2891_2892insA; p.L965fs*4; 8:52656937-52656938	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2377T>C; p.S793P; 8:52657452-52657452	skin	malignant_melanoma	Substitution - Missense
c.109A>G; p.K37E; 8:52683976-52683976	pancreas	carcinoma	Substitution - Missense
c.3113A>G; p.E1038G; 8:52656716-52656716	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1119C>T; p.D373D; 8:52668075-52668075	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.4426T>C; p.L1476L; 8:52634935-52634935	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.4554T>C; p.Y1518Y; 8:52628114-52628114	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.994A>T; p.M332L; 8:52673853-52673853	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3141delA; p.K1047fs*14; 8:52656688-52656688	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1285A>G; p.K429E; 8:52661608-52661608	liver	carcinoma	Substitution - Missense
c.3919G>A; p.E1307K; 8:52645770-52645770	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1285A>G; p.K429E; 8:52661608-52661608	liver	carcinoma	Substitution - Missense
c.1285A>G; p.K429E; 8:52661608-52661608	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.4424G>A; p.R1475Q; 8:52634937-52634937	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3255G>A; p.Q1085Q; 8:52656574-52656574	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3255G>A; p.Q1085Q; 8:52656574-52656574	skin	malignant_melanoma	Substitution - coding silent
c.1174G>A; p.G392R; 8:52661719-52661719	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4088G>A; p.R1363Q; 8:52642712-52642712	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3231G>C; p.L1077F; 8:52656598-52656598	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1052T>A; p.I351N; 8:52668142-52668142	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4162G>T; p.E1388*; 8:52642526-52642526	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.3134A>G; p.E1045G; 8:52656695-52656695	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3844G>A; p.G1282R; 8:52645845-52645845	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4472G>A; p.R1491K; 8:52630497-52630497	breast	carcinoma	Substitution - Missense
c.2656G>A; p.E886K; 8:52657173-52657173	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.369G>A; p.L123L; 8:52683549-52683549	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.369G>A; p.L123L; 8:52683549-52683549	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.369G>A; p.L123L; 8:52683549-52683549	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4231G>T; p.G1411*; 8:52642457-52642457	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4231G>T; p.G1411*; 8:52642457-52642457	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.3267G>A; p.L1089L; 8:52656562-52656562	pancreas	carcinoma	Substitution - coding silent
c.1661G>T; p.G554V; 8:52660624-52660624	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3738A>G; p.L1246L; 8:52656091-52656091	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3580A>C; p.K1194Q; 8:52656249-52656249	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3565G>A; p.A1189T; 8:52656264-52656264	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4323C>T; p.S1441S; 8:52642365-52642365	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1450A>G; p.K484E; 8:52661190-52661190	liver	carcinoma	Substitution - Missense
c.1450A>G; p.K484E; 8:52661190-52661190	liver	carcinoma	Substitution - Missense
c.2047G>A; p.A683T; 8:52657782-52657782	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2047G>A; p.A683T; 8:52657782-52657782	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3615C>T; p.Y1205Y; 8:52656214-52656214	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.862C>A; p.Q288K; 8:52673985-52673985	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3576A>T; p.R1192S; 8:52656253-52656253	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1768C>T; p.P590S; 8:52658898-52658898	skin	malignant_melanoma	Substitution - Missense
c.3111G>T; p.Q1037H; 8:52656718-52656718	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3111G>T; p.Q1037H; 8:52656718-52656718	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1581A>G; p.L527L; 8:52660972-52660972	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.72-4G>C; p.?; 8:52684017-52684017	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2006G>T; p.R669I; 8:52657823-52657823	breast	carcinoma	Substitution - Missense
c.1791C>G; p.L597L; 8:52658875-52658875	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.776C>T; p.P259L; 8:52674071-52674071	skin	malignant_melanoma	Substitution - Missense
c.1707G>C; p.K569N; 8:52658959-52658959	kidney	other; neoplasm	Substitution - Missense
c.4163_4165delAAG; p.E1388del; 8:52642523-52642525	ovary	carcinoma; serous_carcinoma	Deletion - In frame
c.2049A>G; p.A683A; 8:52657780-52657780	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.629G>A; p.R210K; 8:52674218-52674218	breast	carcinoma	Substitution - Missense
c.778A>T; p.K260*; 8:52674069-52674069	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3973A>G; p.I1325V; 8:52645716-52645716	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.651G>A; p.L217L; 8:52674196-52674196	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1120C>T; p.Q374*; 8:52668074-52668074	skin	malignant_melanoma	Substitution - Nonsense
c.510G>A; p.K170K; 8:52676431-52676431	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2092C>T; p.H698Y; 8:52657737-52657737	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.754G>T; p.E252*; 8:52674093-52674093	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4344T>C; p.N1448N; 8:52636063-52636063	breast	carcinoma	Substitution - coding silent
c.4393-10C>T; p.?; 8:52634978-52634978	skin; head_neck	malignant_melanoma; superficial_spreading	Unknown
c.229G>T; p.E77*; 8:52683689-52683689	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4349A>G; p.H1450R; 8:52636058-52636058	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4707+1delG; p.?; 8:52624716-52624716	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2436A>G; p.I812M; 8:52657393-52657393	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4349A>G; p.H1450R; 8:52636058-52636058	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3428G>T; p.R1143I; 8:52656401-52656401	breast	carcinoma	Substitution - Missense
c.1426G>A; p.V476I; 8:52661214-52661214	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3026A>G; p.D1009G; 8:52656803-52656803	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3026A>G; p.D1009G; 8:52656803-52656803	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3058G>A; p.E1020K; 8:52656771-52656771	skin; upper_arm	malignant_melanoma	Substitution - Missense
c.3338A>G; p.D1113G; 8:52656491-52656491	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1420C>T; p.R474C; 8:52661220-52661220	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1420C>T; p.R474C; 8:52661220-52661220	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3718G>A; p.E1240K; 8:52656111-52656111	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2492G>C; p.C831S; 8:52657337-52657337	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1649G>T; p.R550L; 8:52660636-52660636	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3140A>G; p.K1047R; 8:52656689-52656689	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4404G>C; p.L1468F; 8:52634957-52634957	oesophagus	carcinoma	Substitution - Missense
c.3836C>T; p.S1279F; 8:52645853-52645853	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2061A>G; p.L687L; 8:52657768-52657768	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.3961C>T; p.R1321*; 8:52645728-52645728	skin	malignant_melanoma	Substitution - Nonsense
c.3961C>T; p.R1321*; 8:52645728-52645728	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3961C>T; p.R1321*; 8:52645728-52645728	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3961C>T; p.R1321*; 8:52645728-52645728	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3144C>G; p.L1048L; 8:52656685-52656685	prostate	carcinoma	Substitution - coding silent
c.1610C>T; p.S537F; 8:52660943-52660943	skin	malignant_melanoma	Substitution - Missense
c.3541A>G; p.S1181G; 8:52656288-52656288	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3229T>G; p.L1077V; 8:52656600-52656600	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.4500-1G>C; p.?; 8:52628169-52628169	skin	malignant_melanoma	Unknown
c.3767_3769delTTG; p.V1256del; 8:52656060-52656062	ovary	carcinoma; serous_carcinoma	Deletion - In frame
c.2806G>T; p.E936*; 8:52657023-52657023	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2238G>A; p.S746S; 8:52657591-52657591	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.4537G>T; p.E1513*; 8:52628131-52628131	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3380C>A; p.T1127N; 8:52656449-52656449	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.446G>A; p.G149D; 8:52676495-52676495	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1488C>T; p.Y496Y; 8:52661152-52661152	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1453A>G; p.I485V; 8:52661187-52661187	liver	carcinoma	Substitution - Missense
c.1453A>G; p.I485V; 8:52661187-52661187	liver	carcinoma	Substitution - Missense
c.3512delA; p.N1171fs*2; 8:52656317-52656317	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3219A>G; p.E1073E; 8:52656610-52656610	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3986A>G; p.Q1329R; 8:52645703-52645703	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1405T>G; p.L469V; 8:52661235-52661235	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2675T>G; p.I892S; 8:52657154-52657154	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2965A>T; p.K989*; 8:52656864-52656864	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Nonsense
c.533A>G; p.Y178C; 8:52676408-52676408	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.651G>T; p.L217F; 8:52674196-52674196	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.898G>C; p.D300H; 8:52673949-52673949	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.179G>A; p.C60Y; 8:52683906-52683906	central_nervous_system; brain	glioma; astrocytoma_Grade_II	Substitution - Missense
c.525T>C; p.Y175Y; 8:52676416-52676416	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.3987+7A>G; p.?; 8:52645695-52645695	liver	carcinoma	Unknown
c.179G>A; p.C60Y; 8:52683906-52683906	central_nervous_system; brain	glioma; astrocytoma_Grade_II	Substitution - Missense
c.3414C>T; p.S1138S; 8:52656415-52656415	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4598A>G; p.E1533G; 8:52628070-52628070	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3199A>T; p.K1067*; 8:52656630-52656630	breast	carcinoma	Substitution - Nonsense
c.3709G>T; p.E1237*; 8:52656120-52656120	pleura	pulmonary_blastoma	Substitution - Nonsense
c.1474G>A; p.V492I; 8:52661166-52661166	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3280G>A; p.E1094K; 8:52656549-52656549	skin; neck	malignant_melanoma	Substitution - Missense
c.1553G>T; p.G518V; 8:52661000-52661000	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1454T>G; p.I485S; 8:52661186-52661186	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3968C>A; p.S1323Y; 8:52645721-52645721	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1216G>A; p.A406T; 8:52661677-52661677	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2149G>A; p.V717I; 8:52657680-52657680	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4441-3delT; p.?; 8:52630531-52630531	central_nervous_system; brainstem	glioma; oligoastrocytoma_Grade_III	Unknown
c.758C>A; p.S253Y; 8:52674089-52674089	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2881G>A; p.D961N; 8:52656948-52656948	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.492C>T; p.Y164Y; 8:52676449-52676449	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1689+1G>A; p.?; 8:52660595-52660595	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2501C>G; p.S834*; 8:52657328-52657328	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1520A>G; p.K507R; 8:52661120-52661120	liver	carcinoma	Substitution - Missense
c.3038C>A; p.S1013Y; 8:52656791-52656791	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4232G>A; p.G1411E; 8:52642456-52642456	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2487A>G; p.E829E; 8:52657342-52657342	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent

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]