Entrez Gene

Basic Information
Gene ID	3678
Name	ITGA5
Synonymous	integrin, alpha 5 (fibronectin receptor, alpha polypeptide);ITGA5;integrin, alpha 5 (fibronectin receptor, alpha polypeptide)
Definition	CD49 antigen-like family member E\|fibronectin receptor subunit alpha\|fibronectin receptor, alpha subunit\|integrin alpha-5\|integrin alpha-F\|very late activation protein 5, alpha subunit
Position	12q11-q13
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 0.16.

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.518T>G; p.V173G; 12:54409297-54409297	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.645+7G>C; p.?; 12:54408886-54408886	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.2939G>T; p.R980L; 12:54398601-54398601	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2843G>A; p.R948Q; 12:54398697-54398697	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.924C>G; p.G308G; 12:54405909-54405909	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2134-1G>T; p.?; 12:54402094-54402094	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.951C>A; p.F317L; 12:54405882-54405882	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.108A>G; p.P36P; 12:54419091-54419091	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.349G>T; p.G117C; 12:54411834-54411834	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.881_882CC>TT; p.P294L; 12:54407673-54407674	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1948A>G; p.I650V; 12:54403017-54403017	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2662delC; p.L888fs*22; 12:54399929-54399929	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1166T>G; p.F389C; 12:54405225-54405225	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1681C>T; p.L561L; 12:54403720-54403720	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1099G>A; p.V367I; 12:54405292-54405292	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2917C>T; p.R973W; 12:54398623-54398623	skin	malignant_melanoma	Substitution - Missense
c.742G>T; p.E248*; 12:54408185-54408185	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1449G>T; p.K483N; 12:54404444-54404444	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.376T>C; p.S126P; 12:54409571-54409571	breast	carcinoma	Substitution - Missense
c.1449G>T; p.K483N; 12:54404444-54404444	large_intestine; colon	carcinoma	Substitution - Missense
c.1164G>A; p.E388E; 12:54405227-54405227	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2865G>A; p.L955L; 12:54398675-54398675	ovary	other; neoplasm	Substitution - coding silent
c.2993C>T; p.P998L; 12:54397438-54397438	skin	malignant_melanoma	Substitution - Missense
c.1963C>T; p.L655L; 12:54403002-54403002	skin	malignant_melanoma	Substitution - coding silent
c.1434C>T; p.S478S; 12:54404459-54404459	skin	malignant_melanoma	Substitution - coding silent
c.1370G>A; p.G457D; 12:54404750-54404750	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2089G>A; p.A697T; 12:54402224-54402224	liver	carcinoma	Substitution - Missense
c.786G>T; p.Q262H; 12:54408141-54408141	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2842C>T; p.R948W; 12:54398698-54398698	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.167C>T; p.P56L; 12:54419032-54419032	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.559C>A; p.L187M; 12:54409256-54409256	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.579C>T; p.R193R; 12:54409236-54409236	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1171C>T; p.R391*; 12:54405220-54405220	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1238G>A; p.G413E; 12:54404882-54404882	skin	malignant_melanoma	Substitution - Missense
c.958G>T; p.E320*; 12:54405875-54405875	skin	malignant_melanoma	Substitution - Nonsense
c.1091G>A; p.R364K; 12:54405300-54405300	skin	malignant_melanoma	Substitution - Missense
c.2588G>C; p.R863T; 12:54400901-54400901	breast	carcinoma	Substitution - Missense
c.1024G>T; p.D342Y; 12:54405367-54405367	liver	carcinoma	Substitution - Missense
c.782G>C; p.R261P; 12:54408145-54408145	skin	malignant_melanoma	Substitution - Missense
c.2342C>T; p.S781F; 12:54401630-54401630	skin	malignant_melanoma	Substitution - Missense
c.2342C>T; p.S781F; 12:54401630-54401630	skin	malignant_melanoma	Substitution - Missense
c.2750T>G; p.F917C; 12:54399736-54399736	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1509C>T; p.P503P; 12:54404201-54404201	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.426C>T; p.F142F; 12:54409521-54409521	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.217G>A; p.G73R; 12:54418982-54418982	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1901G>A; p.R634Q; 12:54403200-54403200	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.958G>A; p.E320K; 12:54405875-54405875	skin	malignant_melanoma	Substitution - Missense
c.958G>A; p.E320K; 12:54405875-54405875	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1200G>A; p.G400G; 12:54405191-54405191	skin	malignant_melanoma	Substitution - coding silent
c.1286C>A; p.P429H; 12:54404834-54404834	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1381C>T; p.R461*; 12:54404739-54404739	skin	malignant_melanoma	Substitution - Nonsense
c.2551C>T; p.Q851*; 12:54400938-54400938	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.802G>A; p.D268N; 12:54408125-54408125	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.802G>A; p.D268N; 12:54408125-54408125	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2695C>A; p.R899S; 12:54399896-54399896	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2245T>C; p.F749L; 12:54401837-54401837	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2938C>A; p.R980S; 12:54398602-54398602	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1199G>A; p.G400E; 12:54405192-54405192	skin	malignant_melanoma	Substitution - Missense
c.2254C>T; p.P752S; 12:54401828-54401828	skin	malignant_melanoma	Substitution - Missense
c.2254C>T; p.P752S; 12:54401828-54401828	skin	malignant_melanoma	Substitution - Missense
c.934C>T; p.R312*; 12:54405899-54405899	skin	malignant_melanoma	Substitution - Nonsense
c.2967C>T; p.T989T; 12:54397464-54397464	skin	malignant_melanoma	Substitution - coding silent
c.1806G>A; p.S602S; 12:54403295-54403295	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.41A>G; p.Q14R; 12:54419158-54419158	liver	carcinoma	Substitution - Missense
c.41A>G; p.Q14R; 12:54419158-54419158	liver	carcinoma	Substitution - Missense
c.1072C>T; p.R358W; 12:54405319-54405319	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1072C>T; p.R358W; 12:54405319-54405319	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1130C>T; p.P377L; 12:54405261-54405261	skin	malignant_melanoma	Substitution - Missense
c.1141C>T; p.L381F; 12:54405250-54405250	skin	malignant_melanoma	Substitution - Missense
c.994G>A; p.A332T; 12:54405686-54405686	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1119C>T; p.A373A; 12:54405272-54405272	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2595G>A; p.T865T; 12:54400894-54400894	skin	malignant_melanoma	Substitution - coding silent
c.566A>G; p.Y189C; 12:54409249-54409249	skin	malignant_melanoma	Substitution - Missense
c.1236C>T; p.I412I; 12:54404884-54404884	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2347C>T; p.R783W; 12:54401625-54401625	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2876C>T; p.A959V; 12:54398664-54398664	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2401G>A; p.E801K; 12:54401465-54401465	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1053G>A; p.M351I; 12:54405338-54405338	skin	malignant_melanoma	Substitution - Missense
c.907G>T; p.V303F; 12:54405926-54405926	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.693C>T; p.G231G; 12:54408234-54408234	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2260C>T; p.L754F; 12:54401822-54401822	skin	malignant_melanoma	Substitution - Missense
c.1738G>A; p.A580T; 12:54403663-54403663	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2679A>G; p.K893K; 12:54399912-54399912	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2584A>G; p.T862A; 12:54400905-54400905	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.504A>G; p.P168P; 12:54409311-54409311	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.674G>A; p.G225E; 12:54408773-54408773	skin	malignant_melanoma	Substitution - Missense
c.2506G>A; p.G836S; 12:54400983-54400983	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.769C>T; p.Q257*; 12:54408158-54408158	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2829G>T; p.K943N; 12:54399657-54399657	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2757G>A; p.L919L; 12:54399729-54399729	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2497A>G; p.I833V; 12:54400992-54400992	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1987C>A; p.Q663K; 12:54402326-54402326	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.862+9G>A; p.?; 12:54407823-54407823	pancreas	carcinoma	Unknown
c.993C>T; p.A331A; 12:54405687-54405687	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.862+9G>A; p.?; 12:54407823-54407823	pancreas	carcinoma	Unknown
c.1191C>A; p.T397T; 12:54405200-54405200	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1887T>C; p.Y629Y; 12:54403214-54403214	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1263G>T; p.Q421H; 12:54404857-54404857	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1825A>T; p.N609Y; 12:54403276-54403276	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1195delC; p.L399fs*26; 12:54405196-54405196	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2938C>T; p.R980C; 12:54398602-54398602	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2346T>G; p.F782L; 12:54401626-54401626	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.123C>T; p.G41G; 12:54419076-54419076	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.33C>T; p.H11H; 12:54419166-54419166	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2637C>T; p.G879G; 12:54400852-54400852	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1393G>T; p.D465Y; 12:54404727-54404727	breast	carcinoma	Substitution - Missense
c.294C>A; p.L98L; 12:54411889-54411889	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2810A>G; p.H937R; 12:54399676-54399676	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1699C>A; p.Q567K; 12:54403702-54403702	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1550G>A; p.G517E; 12:54404160-54404160	ovary	other; neoplasm	Substitution - Missense
c.1589A>G; p.N530S; 12:54403943-54403943	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1589A>G; p.N530S; 12:54403943-54403943	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1589A>G; p.N530S; 12:54403943-54403943	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1589A>G; p.N530S; 12:54403943-54403943	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1589A>G; p.N530S; 12:54403943-54403943	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1589A>G; p.N530S; 12:54403943-54403943	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1864_1866delGGC; p.G622delG; 12:54403235-54403237	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Deletion - In frame
c.2425G>A; p.D809N; 12:54401441-54401441	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.101C>T; p.P34L; 12:54419098-54419098	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.101C>T; p.P34L; 12:54419098-54419098	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2394C>T; p.S798S; 12:54401472-54401472	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2117T>G; p.L706R; 12:54402196-54402196	kidney	other; neoplasm	Substitution - Missense
c.2328A>G; p.Q776Q; 12:54401644-54401644	breast	carcinoma	Substitution - coding silent
c.2117T>G; p.L706R; 12:54402196-54402196	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.293T>C; p.L98P; 12:54411890-54411890	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.2307C>G; p.S769R; 12:54401665-54401665	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1409G>A; p.G470E; 12:54404711-54404711	skin	malignant_melanoma	Substitution - Missense
c.1350C>A; p.S450R; 12:54404770-54404770	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; non_functioning	Substitution - Missense
c.2906G>A; p.R969Q; 12:54398634-54398634	skin	malignant_melanoma	Substitution - Missense
c.2134-1G>A; p.?; 12:54402094-54402094	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Unknown
c.2134-1G>A; p.?; 12:54402094-54402094	urinary_tract; bladder	carcinoma	Unknown
c.2906G>A; p.R969Q; 12:54398634-54398634	NS	NS	Substitution - Missense
c.2724C>T; p.I908I; 12:54399867-54399867	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1761G>A; p.M587I; 12:54403640-54403640	skin	malignant_melanoma	Substitution - Missense
c.768G>A; p.G256G; 12:54408159-54408159	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.2708C>T; p.S903F; 12:54399883-54399883	skin	malignant_melanoma	Substitution - Missense
c.1506C>T; p.F502F; 12:54404204-54404204	skin	malignant_melanoma	Substitution - coding silent
c.469G>A; p.A157T; 12:54409346-54409346	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1075C>T; p.P359S; 12:54405316-54405316	skin	malignant_melanoma	Substitution - Missense
c.850G>T; p.D284Y; 12:54407844-54407844	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2325G>A; p.S775S; 12:54401647-54401647	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.355C>T; p.R119W; 12:54409592-54409592	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2376C>T; p.V792V; 12:54401596-54401596	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1841C>T; p.P614L; 12:54403260-54403260	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1996G>A; p.V666M; 12:54402317-54402317	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.2516C>T; p.S839F; 12:54400973-54400973	skin	malignant_melanoma	Substitution - Missense
c.2722A>G; p.I908V; 12:54399869-54399869	stomach	adenocarcinoma	Substitution - Missense
c.145_151delCCAGCAG; p.P49fs*119; 12:54419048-54419054	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Deletion - Frameshift
c.3071G>A; p.G1024E; 12:54396372-54396372	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1957C>T; p.P653S; 12:54403008-54403008	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3057C>T; p.I1019I; 12:54397374-54397374	skin	malignant_melanoma	Substitution - coding silent
c.3091C>T; p.P1031S; 12:54396352-54396352	prostate	carcinoma	Substitution - Missense
c.1289G>A; p.G430E; 12:54404831-54404831	skin	malignant_melanoma	Substitution - Missense
c.633C>T; p.A211A; 12:54408905-54408905	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1089C>T; p.G363G; 12:54405302-54405302	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1784C>G; p.S595*; 12:54403317-54403317	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1524A>T; p.P508P; 12:54404186-54404186	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.450C>A; p.G150G; 12:54409497-54409497	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.469G>T; p.A157S; 12:54409346-54409346	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3102C>T; p.T1034T; 12:54396341-54396341	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2659T>C; p.S887P; 12:54399932-54399932	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2758C>T; p.R920C; 12:54399728-54399728	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2327A>T; p.Q776L; 12:54401645-54401645	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2508C>T; p.G836G; 12:54400981-54400981	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2114G>T; p.G705V; 12:54402199-54402199	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1234A>G; p.I412V; 12:54404886-54404886	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2307-2A>G; p.?; 12:54401667-54401667	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1140C>T; p.T380T; 12:54405251-54405251	skin	malignant_melanoma	Substitution - coding silent
c.2307-2A>G; p.?; 12:54401667-54401667	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1731G>A; p.Q577Q; 12:54403670-54403670	skin	malignant_melanoma	Substitution - coding silent
c.1950C>T; p.I650I; 12:54403015-54403015	skin	malignant_melanoma	Substitution - coding silent
c.1429G>T; p.G477W; 12:54404464-54404464	skin	malignant_melanoma	Substitution - Missense
c.1015G>A; p.G339R; 12:54405665-54405665	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1209C>T; p.D403D; 12:54405182-54405182	skin	malignant_melanoma	Substitution - coding silent
c.468C>T; p.C156C; 12:54409347-54409347	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2334C>T; p.D778D; 12:54401638-54401638	pancreas	carcinoma	Substitution - coding silent
c.1058G>A; p.R353Q; 12:54405333-54405333	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2921A>T; p.Q974L; 12:54398619-54398619	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.160G>A; p.G54R; 12:54419039-54419039	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1003G>A; p.V335I; 12:54405677-54405677	breast	carcinoma	Substitution - Missense
c.1003G>A; p.V335I; 12:54405677-54405677	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1170C>T; p.G390G; 12:54405221-54405221	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1057C>T; p.R353W; 12:54405334-54405334	skin	malignant_melanoma	Substitution - Missense
c.1399G>A; p.D467N; 12:54404721-54404721	skin	malignant_melanoma	Substitution - Missense
c.1183T>C; p.S395P; 12:54405208-54405208	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.224G>A; p.S75N; 12:54411959-54411959	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.236G>A; p.G79E; 12:54411947-54411947	skin	malignant_melanoma	Substitution - Missense
c.604C>T; p.Q202*; 12:54408934-54408934	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.409A>G; p.K137E; 12:54409538-54409538	liver	carcinoma	Substitution - Missense
c.1463+2T>G; p.?; 12:54404428-54404428	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.1694C>A; p.S565Y; 12:54403707-54403707	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1068C>T; p.D356D; 12:54405323-54405323	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2119G>A; p.V707I; 12:54402194-54402194	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2119G>A; p.V707I; 12:54402194-54402194	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.651C>T; p.G217G; 12:54408796-54408796	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.737A>G; p.Y246C; 12:54408190-54408190	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1864G>A; p.G622S; 12:54403237-54403237	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1864G>A; p.G622S; 12:54403237-54403237	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2920C>T; p.Q974*; 12:54398620-54398620	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.2232G>A; p.W744*; 12:54401850-54401850	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1741C>T; p.R581*; 12:54403660-54403660	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1551G>A; p.G517G; 12:54404159-54404159	skin	malignant_melanoma	Substitution - coding silent
c.2235T>C; p.G745G; 12:54401847-54401847	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1159G>A; p.D387N; 12:54405232-54405232	skin	malignant_melanoma	Substitution - Missense
c.1672C>T; p.R558W; 12:54403729-54403729	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1622-2A>T; p.?; 12:54403781-54403781	lung; right_upper_lobe	carcinoma; adenocarcinoma	Unknown
c.2392T>A; p.S798T; 12:54401474-54401474	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2331C>T; p.S777S; 12:54401641-54401641	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1370G>T; p.G457V; 12:54404750-54404750	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1809G>A; p.P603P; 12:54403292-54403292	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1431G>A; p.G477G; 12:54404462-54404462	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2759G>A; p.R920H; 12:54399727-54399727	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2735C>A; p.P912Q; 12:54399751-54399751	skin	malignant_melanoma	Substitution - Missense
c.1477G>A; p.V493M; 12:54404233-54404233	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.397C>A; p.P133T; 12:54409550-54409550	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.1792C>T; p.R598*; 12:54403309-54403309	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1792C>T; p.R598*; 12:54403309-54403309	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1124T>A; p.I375K; 12:54405267-54405267	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1792C>T; p.R598*; 12:54403309-54403309	skin	malignant_melanoma	Substitution - Nonsense
c.1792C>T; p.R598*; 12:54403309-54403309	skin	malignant_melanoma	Substitution - Nonsense
c.1792C>T; p.R598*; 12:54403309-54403309	skin	malignant_melanoma	Substitution - Nonsense

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]