Entrez Gene

Basic Information
Gene ID	57509
Name	MTUS1
Synonymous	microtubule associated tumor suppressor 1;MTUS1;microtubule associated tumor suppressor 1
Definition	AT2 receptor-binding protein\|AT2 receptor-interacting protein\|AT2R binding protein\|angiotensin-II type 2 receptor-interacting protein\|erythroid differentiation-related\|microtubule-associated tumor suppressor 1\|mitochondrial tumor suppressor gene 1\|transcr
Position	8p22
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 0.15.

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.1829C>T; p.S610L; 8:17753979-17753979	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3681C>T; p.N1227N; 8:17646058-17646058	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1358A>G; p.K453R; 8:17754450-17754450	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1257C>G; p.V419V; 8:17754551-17754551	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3119T>G; p.L1040*; 8:17654656-17654656	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3385-1G>A; p.?; 8:17649963-17649963	urinary_tract; bladder	carcinoma	Unknown
c.1260T>C; p.I420I; 8:17754548-17754548	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2156T>C; p.L719S; 8:17743735-17743735	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1849_1850AA>TT; p.K617L; 8:17753958-17753959	pancreas	carcinoma	Substitution - Missense
c.3721A>C; p.S1241R; 8:17646018-17646018	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3207C>T; p.S1069S; 8:17654568-17654568	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.733G>A; p.A245T; 8:17755075-17755075	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1666A>G; p.T556A; 8:17754142-17754142	liver	carcinoma	Substitution - Missense
c.3787C>T; p.P1263S; 8:17645952-17645952	lung	carcinoma; mucoepidermoid_carcinoma	Substitution - Missense
c.1275G>A; p.T425T; 8:17754533-17754533	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.678A>G; p.E226E; 8:17755130-17755130	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.3132T>C; p.H1044H; 8:17654643-17654643	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1090G>T; p.V364L; 8:17754718-17754718	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3407T>G; p.L1136R; 8:17649940-17649940	NS	malignant_melanoma	Substitution - Missense
c.3407T>G; p.L1136R; 8:17649940-17649940	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.3407T>G; p.L1136R; 8:17649940-17649940	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.632C>A; p.S211Y; 8:17755176-17755176	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1044T>C; p.D348D; 8:17754764-17754764	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2318C>T; p.S773L; 8:17723803-17723803	skin	malignant_melanoma	Substitution - Missense
c.2058G>T; p.M686I; 8:17753750-17753750	skin	malignant_melanoma	Substitution - Missense
c.2320T>C; p.S774P; 8:17723801-17723801	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1074delT; p.D358fs*8; 8:17754734-17754734	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1921C>G; p.L641V; 8:17753887-17753887	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2245C>G; p.R749G; 8:17743646-17743646	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2245C>G; p.R749G; 8:17743646-17743646	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2245C>G; p.R749G; 8:17743646-17743646	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2245C>G; p.R749G; 8:17743646-17743646	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2245C>G; p.R749G; 8:17743646-17743646	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2245C>G; p.R749G; 8:17743646-17743646	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2245C>G; p.R749G; 8:17743646-17743646	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2245C>G; p.R749G; 8:17743646-17743646	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2245C>G; p.R749G; 8:17743646-17743646	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2245C>G; p.R749G; 8:17743646-17743646	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2245C>G; p.R749G; 8:17743646-17743646	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2245C>G; p.R749G; 8:17743646-17743646	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1988G>A; p.S663N; 8:17753820-17753820	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3277G>T; p.E1093*; 8:17653436-17653436	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3277G>T; p.E1093*; 8:17653436-17653436	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Nonsense
c.1341G>A; p.A447A; 8:17754467-17754467	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3088A>G; p.K1030E; 8:17655883-17655883	skin	malignant_melanoma	Substitution - Missense
c.648G>A; p.T216T; 8:17755160-17755160	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2715G>A; p.L905L; 8:17684451-17684451	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.3234A>C; p.E1078D; 8:17653479-17653479	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1015G>A; p.E339K; 8:17754793-17754793	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1300G>C; p.E434Q; 8:17754508-17754508	breast	carcinoma	Substitution - Missense
c.1007A>T; p.N336I; 8:17754801-17754801	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.743A>G; p.D248G; 8:17755065-17755065	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1824G>T; p.V608V; 8:17753984-17753984	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.806G>T; p.G269V; 8:17755002-17755002	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1850A>T; p.K617I; 8:17753958-17753958	pancreas	carcinoma	Substitution - Missense
c.1570G>T; p.D524Y; 8:17754238-17754238	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2650C>T; p.R884*; 8:17684516-17684516	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3486G>T; p.M1162I; 8:17649861-17649861	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.74delA; p.N25fs*20; 8:17755734-17755734	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2224A>C; p.N742H; 8:17743667-17743667	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.994G>C; p.E332Q; 8:17754814-17754814	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.3539G>A; p.R1180H; 8:17647042-17647042	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.212C>A; p.S71Y; 8:17755596-17755596	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1309A>C; p.K437Q; 8:17754499-17754499	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2470A>G; p.K824E; 8:17715881-17715881	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.871G>A; p.A291T; 8:17754937-17754937	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2378C>T; p.A793V; 8:17723743-17723743	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2142T>C; p.P714P; 8:17743749-17743749	bone; femur	chondrosarcoma	Substitution - coding silent
c.3394C>T; p.Q1132*; 8:17649953-17649953	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1610C>T; p.T537I; 8:17754198-17754198	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.670G>C; p.D224H; 8:17755138-17755138	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2478G>A; p.E826E; 8:17715873-17715873	skin	malignant_melanoma	Substitution - coding silent
c.1849A>T; p.K617*; 8:17753959-17753959	pancreas	carcinoma	Substitution - Nonsense
c.1396G>A; p.D466N; 8:17754412-17754412	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1884G>A; p.G628G; 8:17753924-17753924	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.471A>G; p.L157L; 8:17755337-17755337	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.471A>G; p.L157L; 8:17755337-17755337	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1448C>G; p.T483R; 8:17754360-17754360	urinary_tract; bladder	carcinoma	Substitution - Missense
c.471A>G; p.L157L; 8:17755337-17755337	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2115C>T; p.T705T; 8:17743776-17743776	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - coding silent
c.787C>T; p.Q263*; 8:17755021-17755021	breast	carcinoma	Substitution - Nonsense
c.1500A>G; p.I500M; 8:17754308-17754308	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1982G>A; p.R661K; 8:17753826-17753826	skin	malignant_melanoma	Substitution - Missense
c.2388G>C; p.R796S; 8:17723733-17723733	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2940A>G; p.K980K; 8:17656031-17656031	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.833G>A; p.G278E; 8:17754975-17754975	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2554C>G; p.H852D; 8:17715797-17715797	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3747C>T; p.S1249S; 8:17645992-17645992	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3747C>T; p.S1249S; 8:17645992-17645992	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1274C>T; p.T425M; 8:17754534-17754534	thyroid	other; neoplasm	Substitution - Missense
c.1709T>G; p.L570R; 8:17754099-17754099	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3301G>T; p.D1101Y; 8:17653269-17653269	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2316G>T; p.Q772H; 8:17723805-17723805	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.75T>C; p.N25N; 8:17755733-17755733	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2695C>T; p.P899S; 8:17684471-17684471	skin	malignant_melanoma	Substitution - Missense
c.2572A>G; p.T858A; 8:17715779-17715779	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2383C>T; p.R795W; 8:17723738-17723738	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1084G>A; p.A362T; 8:17754724-17754724	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2664C>T; p.I888I; 8:17684502-17684502	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2842G>A; p.E948K; 8:17675249-17675249	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1408G>A; p.A470T; 8:17754400-17754400	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.1888G>A; p.V630I; 8:17753920-17753920	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1754G>T; p.S585I; 8:17754054-17754054	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.2079T>C; p.G693G; 8:17753729-17753729	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.251A>C; p.K84T; 8:17755557-17755557	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1237T>G; p.W413G; 8:17754571-17754571	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3077C>T; p.A1026V; 8:17655894-17655894	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3563T>G; p.L1188W; 8:17647018-17647018	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2523C>A; p.S841S; 8:17715828-17715828	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2614C>G; p.L872V; 8:17713223-17713223	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2955_2958delACAA; p.T987fs*53; 8:17656013-17656016	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Deletion - Frameshift
c.544C>T; p.Q182*; 8:17755264-17755264	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.312G>T; p.Q104H; 8:17755496-17755496	skin	malignant_melanoma	Substitution - Missense
c.701C>A; p.T234K; 8:17755107-17755107	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.755A>T; p.Q252L; 8:17755053-17755053	skin	malignant_melanoma	Substitution - Missense
c.131T>C; p.V44A; 8:17755677-17755677	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3055C>T; p.R1019W; 8:17655916-17655916	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1756C>T; p.Q586*; 8:17754052-17754052	prostate	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2371A>C; p.S791R; 8:17723750-17723750	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3392C>T; p.P1131L; 8:17649955-17649955	skin	malignant_melanoma	Substitution - Missense
c.525T>C; p.H175H; 8:17755283-17755283	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1457C>G; p.T486R; 8:17754351-17754351	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.262G>A; p.D88N; 8:17755546-17755546	breast	carcinoma	Substitution - Missense
c.2286T>C; p.S762S; 8:17743605-17743605	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1358A>C; p.K453T; 8:17754450-17754450	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2555A>G; p.H852R; 8:17715796-17715796	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2555A>G; p.H852R; 8:17715796-17715796	stomach	adenocarcinoma	Substitution - Missense
c.1200G>A; p.P400P; 8:17754608-17754608	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1821C>G; p.A607A; 8:17753987-17753987	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1200G>A; p.P400P; 8:17754608-17754608	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1821C>G; p.A607A; 8:17753987-17753987	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1517A>T; p.N506I; 8:17754291-17754291	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1427A>C; p.K476T; 8:17754381-17754381	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1481T>C; p.V494A; 8:17754327-17754327	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1821C>A; p.A607A; 8:17753987-17753987	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1821C>A; p.A607A; 8:17753987-17753987	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1821C>A; p.A607A; 8:17753987-17753987	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.548C>A; p.S183Y; 8:17755260-17755260	skin	malignant_melanoma	Substitution - Missense
c.2029G>A; p.E677K; 8:17753779-17753779	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3131A>G; p.H1044R; 8:17654644-17654644	large_intestine; caecum	adenoma	Substitution - Missense
c.3759G>T; p.L1253F; 8:17645980-17645980	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3558A>T; p.E1186D; 8:17647023-17647023	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1376G>A; p.R459Q; 8:17754432-17754432	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2384G>A; p.R795Q; 8:17723737-17723737	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2308_2309insA; p.T770fs*11; 8:17723812-17723813	large_intestine; rectum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2983C>A; p.Q995K; 8:17655988-17655988	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3444G>C; p.E1148D; 8:17649903-17649903	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3222G>A; p.K1074K; 8:17653491-17653491	skin	malignant_melanoma	Substitution - coding silent
c.3358A>G; p.R1120G; 8:17653212-17653212	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3351A>G; p.E1117E; 8:17653219-17653219	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2767A>C; p.K923Q; 8:17684399-17684399	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.900delA; p.V301fs*37; 8:17754908-17754908	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1331C>T; p.P444L; 8:17754477-17754477	skin	malignant_melanoma	Substitution - Missense
c.2829G>A; p.L943L; 8:17684337-17684337	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1573G>C; p.A525P; 8:17754235-17754235	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.908A>G; p.N303S; 8:17754900-17754900	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1967T>C; p.V656A; 8:17753841-17753841	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.908A>G; p.N303S; 8:17754900-17754900	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3502-2A>C; p.?; 8:17647081-17647081	stomach	carcinoma; adenocarcinoma	Unknown
c.2111C>T; p.T704M; 8:17743780-17743780	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2336C>A; p.P779H; 8:17723785-17723785	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.3248C>T; p.S1083L; 8:17653465-17653465	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2688G>A; p.A896A; 8:17684478-17684478	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3786C>T; p.F1262F; 8:17645953-17645953	skin	malignant_melanoma	Substitution - coding silent
c.442T>C; p.C148R; 8:17755366-17755366	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2365T>A; p.L789M; 8:17723756-17723756	skin	malignant_melanoma	Substitution - Missense
c.442T>C; p.C148R; 8:17755366-17755366	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3184C>T; p.L1062L; 8:17654591-17654591	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3057G>A; p.R1019R; 8:17655914-17655914	skin	malignant_melanoma	Substitution - coding silent
c.1838A>C; p.E613A; 8:17753970-17753970	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1283T>C; p.M428T; 8:17754525-17754525	pancreas	carcinoma	Substitution - Missense
c.668A>T; p.Y223F; 8:17755140-17755140	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2168C>T; p.A723V; 8:17743723-17743723	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1345G>A; p.E449K; 8:17754463-17754463	skin; trunk	malignant_melanoma	Substitution - Missense
c.1876G>A; p.E626K; 8:17753932-17753932	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.1760C>A; p.A587D; 8:17754048-17754048	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.728A>G; p.Y243C; 8:17755080-17755080	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.728A>G; p.Y243C; 8:17755080-17755080	large_intestine; rectum	NS	Substitution - Missense
c.1123G>T; p.E375*; 8:17754685-17754685	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3426C>A; p.S1142R; 8:17649921-17649921	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2505G>T; p.Q835H; 8:17715846-17715846	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.941C>T; p.S314F; 8:17754867-17754867	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.776A>G; p.D259G; 8:17755032-17755032	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2772G>T; p.Q924H; 8:17684394-17684394	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3776C>T; p.S1259L; 8:17645963-17645963	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.729C>T; p.Y243Y; 8:17755079-17755079	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1698delA; p.A567fs*4; 8:17754110-17754110	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3066C>T; p.Y1022Y; 8:17655905-17655905	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2897G>C; p.G966A; 8:17675194-17675194	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1587G>T; p.K529N; 8:17754221-17754221	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.158A>T; p.D53V; 8:17755650-17755650	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3267T>C; p.S1089S; 8:17653446-17653446	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1312G>A; p.V438I; 8:17754496-17754496	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1588G>A; p.V530I; 8:17754220-17754220	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2288-1G>A; p.?; 8:17723834-17723834	skin	malignant_melanoma	Unknown
c.1611C>T; p.T537T; 8:17754197-17754197	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1611C>T; p.T537T; 8:17754197-17754197	skin	malignant_melanoma	Substitution - coding silent
c.2394A>C; p.G798G; 8:17723727-17723727	central_nervous_system; brain	glioma	Substitution - coding silent
c.2918C>T; p.T973I; 8:17656053-17656053	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.292C>A; p.H98N; 8:17755516-17755516	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.901G>C; p.V301L; 8:17754907-17754907	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2450C>A; p.S817Y; 8:17715901-17715901	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2143G>A; p.D715N; 8:17743748-17743748	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1032T>G; p.C344W; 8:17754776-17754776	liver	carcinoma	Substitution - Missense
c.658G>T; p.E220*; 8:17755150-17755150	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.799T>C; p.S267P; 8:17755009-17755009	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.658G>T; p.E220*; 8:17755150-17755150	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2527T>C; p.Y843H; 8:17715824-17715824	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.799T>C; p.S267P; 8:17755009-17755009	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	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]