Entrez Gene

Basic Information
Gene ID	23047
Name	PDS5B
Synonymous	PDS5 cohesin associated factor B;PDS5B;PDS5 cohesin associated factor B
Definition	androgen induced inhibitor of proliferation\|androgen-induced proliferation inhibitor\|androgen-induced prostate proliferative shutoff-associated protein AS3\|androgen-induced shutoff 3\|sister chromatid cohesion protein PDS5 homolog B
Position	13q12.3
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 0.25.

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.1615C>T; p.P539S; 13:32699744-32699744	skin	malignant_melanoma	Substitution - Missense
c.1517T>A; p.V506E; 13:32694270-32694270	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3889C>T; p.L1297F; 13:32770385-32770385	skin	malignant_melanoma	Substitution - Missense
c.135G>A; p.M45I; 13:32651830-32651830	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2219A>G; p.K740R; 13:32732196-32732196	oesophagus	carcinoma	Substitution - Missense
c.3863G>T; p.G1288V; 13:32770359-32770359	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1883C>T; p.S628L; 13:32706960-32706960	breast	carcinoma	Substitution - Missense
c.1923A>T; p.P641P; 13:32707000-32707000	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1724A>G; p.Q575R; 13:32699853-32699853	prostate	carcinoma	Substitution - Missense
c.2715G>A; p.Q905Q; 13:32746079-32746079	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3082T>C; p.L1028L; 13:32758112-32758112	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.3561C>T; p.Y1187Y; 13:32764531-32764531	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2163A>C; p.G721G; 13:32732140-32732140	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4017G>C; p.Q1339H; 13:32770513-32770513	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2405G>A; p.R802Q; 13:32735329-32735329	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.230G>A; p.R77H; 13:32651925-32651925	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3714A>G; p.V1238V; 13:32770210-32770210	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.550A>G; p.I184V; 13:32659206-32659206	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1202G>A; p.R401Q; 13:32684022-32684022	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.255T>G; p.A85A; 13:32651950-32651950	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1369C>T; p.R457W; 13:32688469-32688469	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.404T>A; p.I135N; 13:32658438-32658438	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.2376C>T; p.F792F; 13:32735300-32735300	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1801A>C; p.I601L; 13:32701383-32701383	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.279T>C; p.P93P; 13:32651974-32651974	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1A>G; p.M1V; 13:32648773-32648773	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2817T>C; p.Y939Y; 13:32753412-32753412	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4142C>T; p.T1381M; 13:32770731-32770731	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4142C>T; p.T1381M; 13:32770731-32770731	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2831C>T; p.A944V; 13:32753426-32753426	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3933_3934insA; p.G1314fs*47; 13:32770429-32770430	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2997G>T; p.L999F; 13:32755897-32755897	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3933_3934insA; p.G1314fs*47; 13:32770429-32770430	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2997G>T; p.L999F; 13:32755897-32755897	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2630G>A; p.R877H; 13:32745994-32745994	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.120A>C; p.K40N; 13:32651815-32651815	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1551+9G>T; p.?; 13:32694313-32694313	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1580C>T; p.S527L; 13:32696882-32696882	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4167A>G; p.K1389K; 13:32770756-32770756	pancreas	carcinoma	Substitution - coding silent
c.4169_4170insA; p.N1390fs*13; 13:32770758-32770759	pancreas	NS	Insertion - Frameshift
c.3796G>C; p.E1266Q; 13:32770292-32770292	breast	carcinoma	Substitution - Missense
c.1204-1G>A; p.?; 13:32687133-32687133	large_intestine	carcinoma; adenocarcinoma	Unknown
c.1610C>G; p.P537R; 13:32699739-32699739	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2281G>A; p.E761K; 13:32735205-32735205	skin	malignant_melanoma	Substitution - Missense
c.285T>G; p.A95A; 13:32651980-32651980	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1741C>T; p.R581C; 13:32701323-32701323	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2931A>G; p.A977A; 13:32753526-32753526	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.4332G>A; p.R1444R; 13:32775040-32775040	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.1751C>G; p.T584S; 13:32701333-32701333	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1803C>T; p.I601I; 13:32701385-32701385	breast	carcinoma	Substitution - coding silent
c.2893A>G; p.N965D; 13:32753488-32753488	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.381G>A; p.R127R; 13:32658307-32658307	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.3914A>C; p.E1305A; 13:32770410-32770410	pancreas	carcinoma	Substitution - Missense
c.381G>A; p.R127R; 13:32658307-32658307	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3646G>T; p.G1216C; 13:32770142-32770142	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4103A>T; p.Q1368L; 13:32770692-32770692	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.348G>A; p.G116G; 13:32658274-32658274	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.348G>A; p.G116G; 13:32658274-32658274	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.50C>A; p.P17H; 13:32648822-32648822	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.970G>A; p.D324N; 13:32678842-32678842	breast	carcinoma	Substitution - Missense
c.2845G>T; p.D949Y; 13:32753440-32753440	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3452G>A; p.R1151Q; 13:32760654-32760654	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3452G>A; p.R1151Q; 13:32760654-32760654	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2909G>A; p.R970Q; 13:32753504-32753504	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3861delG; p.G1288fs*21; 13:32770357-32770357	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2209T>C; p.F737L; 13:32732186-32732186	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4308+2T>C; p.?; 13:32773326-32773326	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.3624+2T>C; p.?; 13:32764596-32764596	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.2446G>A; p.E816K; 13:32741119-32741119	thyroid	carcinoma	Substitution - Missense
c.1560C>T; p.A520A; 13:32696862-32696862	skin	malignant_melanoma	Substitution - coding silent
c.1522G>A; p.D508N; 13:32694275-32694275	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1086T>C; p.P362P; 13:32683906-32683906	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2585G>A; p.G862E; 13:32742700-32742700	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4064G>T; p.R1355I; 13:32770560-32770560	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3660G>A; p.T1220T; 13:32770156-32770156	pancreas	carcinoma	Substitution - coding silent
c.2148C>G; p.H716Q; 13:32732125-32732125	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3660G>A; p.T1220T; 13:32770156-32770156	pancreas	carcinoma	Substitution - coding silent
c.2230T>C; p.F744L; 13:32732207-32732207	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3562A>G; p.T1188A; 13:32764532-32764532	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1426T>A; p.C476S; 13:32688526-32688526	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1879A>G; p.K627E; 13:32706956-32706956	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1638G>A; p.M546I; 13:32699767-32699767	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3348G>C; p.M1116I; 13:32759666-32759666	skin	malignant_melanoma	Substitution - Missense
c.2740G>A; p.E914K; 13:32753335-32753335	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4130G>A; p.R1377K; 13:32770719-32770719	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2587G>A; p.D863N; 13:32742702-32742702	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2587G>A; p.D863N; 13:32742702-32742702	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4257C>T; p.V1419V; 13:32773273-32773273	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3244A>G; p.T1082A; 13:32758588-32758588	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2149A>T; p.K717*; 13:32732126-32732126	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.3738T>A; p.S1246R; 13:32770234-32770234	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4188C>T; p.S1396S; 13:32773204-32773204	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1850C>A; p.S617Y; 13:32701432-32701432	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2761G>A; p.V921M; 13:32753356-32753356	skin	malignant_melanoma	Substitution - Missense
c.1093G>T; p.A365S; 13:32683913-32683913	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3001C>T; p.H1001Y; 13:32755901-32755901	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2393T>A; p.L798H; 13:32735317-32735317	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1651C>T; p.Q551*; 13:32699780-32699780	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.198delT; p.L69fs*12; 13:32651893-32651893	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2500C>T; p.R834*; 13:32742615-32742615	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3652delA; p.T1220fs*10; 13:32770148-32770148	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3652delA; p.T1220fs*10; 13:32770148-32770148	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4010C>T; p.T1337M; 13:32770506-32770506	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2500C>T; p.R834*; 13:32742615-32742615	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2500C>T; p.R834*; 13:32742615-32742615	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2205G>A; p.A735A; 13:32732182-32732182	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2205G>A; p.A735A; 13:32732182-32732182	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1940G>A; p.R647K; 13:32707017-32707017	breast	carcinoma	Substitution - Missense
c.2795G>A; p.R932H; 13:32753390-32753390	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3759C>T; p.G1253G; 13:32770255-32770255	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1810C>A; p.L604I; 13:32701392-32701392	breast	carcinoma	Substitution - Missense
c.3889C>G; p.L1297V; 13:32770385-32770385	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4165A>C; p.K1389Q; 13:32770754-32770754	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3476G>T; p.S1159I; 13:32760678-32760678	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.2535A>T; p.K845N; 13:32742650-32742650	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2999C>T; p.A1000V; 13:32755899-32755899	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.575C>A; p.S192Y; 13:32659231-32659231	liver	carcinoma	Substitution - Missense
c.575C>A; p.S192Y; 13:32659231-32659231	liver	carcinoma	Substitution - Missense
c.168T>G; p.Y56*; 13:32651863-32651863	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3932C>A; p.S1311Y; 13:32770428-32770428	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2212T>C; p.S738P; 13:32732189-32732189	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.594G>A; p.T198T; 13:32659250-32659250	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3817G>C; p.D1273H; 13:32770313-32770313	oesophagus	carcinoma	Substitution - Missense
c.684T>C; p.A228A; 13:32667823-32667823	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.531G>A; p.M177I; 13:32659187-32659187	kidney	other; neoplasm	Substitution - Missense
c.26A>G; p.N9S; 13:32648798-32648798	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.474_487del14; p.R159fs*24; 13:32658508-32658521	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.658G>A; p.A220T; 13:32667797-32667797	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3348G>A; p.M1116I; 13:32759666-32759666	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.348G>C; p.G116G; 13:32658274-32658274	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.2800C>T; p.R934W; 13:32753395-32753395	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1837A>G; p.I613V; 13:32701419-32701419	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2944_2945insA; p.L983fs*20; 13:32755844-32755845	NS	NS	Insertion - Frameshift
c.1641G>A; p.K547K; 13:32699770-32699770	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3742C>T; p.R1248*; 13:32770238-32770238	prostate	carcinoma	Substitution - Nonsense
c.907A>G; p.K303E; 13:32675904-32675904	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2170C>T; p.R724C; 13:32732147-32732147	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3882A>C; p.P1294P; 13:32770378-32770378	skin	malignant_melanoma	Substitution - coding silent
c.3967G>T; p.A1323S; 13:32770463-32770463	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.962+9T>C; p.?; 13:32675968-32675968	breast	carcinoma	Unknown
c.3742C>T; p.R1248*; 13:32770238-32770238	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Substitution - Nonsense
c.1846G>A; p.E616K; 13:32701428-32701428	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1846G>A; p.E616K; 13:32701428-32701428	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2736C>T; p.N912N; 13:32746100-32746100	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2407-8A>T; p.?; 13:32741072-32741072	stomach	carcinoma; diffuse_adenocarcinoma	Unknown
c.2912A>G; p.E971G; 13:32753507-32753507	liver	carcinoma	Substitution - Missense
c.2912A>G; p.E971G; 13:32753507-32753507	liver	carcinoma	Substitution - Missense
c.909G>T; p.K303N; 13:32675906-32675906	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2295A>G; p.T765T; 13:32735219-32735219	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1829C>T; p.P610L; 13:32701411-32701411	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.977A>G; p.H326R; 13:32678849-32678849	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2768C>G; p.A923G; 13:32753363-32753363	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.1325A>C; p.H442P; 13:32687255-32687255	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3353C>A; p.S1118*; 13:32759671-32759671	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Nonsense
c.4339C>T; p.R1447*; 13:32775047-32775047	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2360C>A; p.S787Y; 13:32735284-32735284	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2023G>T; p.A675S; 13:32710006-32710006	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3664G>A; p.V1222I; 13:32770160-32770160	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3233C>G; p.S1078*; 13:32758577-32758577	small_intestine	carcinoid-endocrine_tumour	Substitution - Nonsense
c.3663C>T; p.P1221P; 13:32770159-32770159	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3916C>T; p.P1306S; 13:32770412-32770412	prostate	carcinoma	Substitution - Missense
c.100C>T; p.R34*; 13:32648872-32648872	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.4308+4T>G; p.?; 13:32773328-32773328	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.3274G>T; p.V1092L; 13:32758618-32758618	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3390T>G; p.V1130V; 13:32760592-32760592	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3945_3946insA; p.S1319fs*42; 13:32770441-32770442	liver	carcinoma	Insertion - Frameshift
c.2685C>A; p.Y895*; 13:32746049-32746049	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1508G>A; p.R503Q; 13:32694261-32694261	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3203T>C; p.V1068A; 13:32758547-32758547	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.372A>G; p.Q124Q; 13:32658298-32658298	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2062G>T; p.A688S; 13:32710045-32710045	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.372A>G; p.Q124Q; 13:32658298-32658298	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1508G>A; p.R503Q; 13:32694261-32694261	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2027G>T; p.C676F; 13:32710010-32710010	breast	carcinoma	Substitution - Missense
c.783G>A; p.E261E; 13:32673293-32673293	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.593C>T; p.T198M; 13:32659249-32659249	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2980T>A; p.Y994N; 13:32755880-32755880	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.4161delA; p.N1390fs*4; 13:32770750-32770750	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4161delA; p.N1390fs*4; 13:32770750-32770750	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4161delA; p.N1390fs*4; 13:32770750-32770750	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4161delA; p.N1390fs*4; 13:32770750-32770750	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4161delA; p.N1390fs*4; 13:32770750-32770750	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4161delA; p.N1390fs*4; 13:32770750-32770750	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4161delA; p.N1390fs*4; 13:32770750-32770750	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.4161delA; p.N1390fs*4; 13:32770750-32770750	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.4161delA; p.N1390fs*4; 13:32770750-32770750	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4161delA; p.N1390fs*4; 13:32770750-32770750	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4161delA; p.N1390fs*4; 13:32770750-32770750	oesophagus	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4161delA; p.N1390fs*4; 13:32770750-32770750	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4161delA; p.N1390fs*4; 13:32770750-32770750	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4161delA; p.N1390fs*4; 13:32770750-32770750	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.4161delA; p.N1390fs*4; 13:32770750-32770750	oesophagus	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4161delA; p.N1390fs*4; 13:32770750-32770750	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2793C>T; p.S931S; 13:32753388-32753388	skin	malignant_melanoma	Substitution - coding silent
c.4161delA; p.N1390fs*4; 13:32770750-32770750	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2427T>G; p.T809T; 13:32741100-32741100	breast	carcinoma	Substitution - coding silent
c.348G>T; p.G116G; 13:32658274-32658274	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4211A>G; p.N1404S; 13:32773227-32773227	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1840G>A; p.D614N; 13:32701422-32701422	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4128A>C; p.G1376G; 13:32770717-32770717	breast	carcinoma	Substitution - coding silent
c.1180A>T; p.R394*; 13:32684000-32684000	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1180A>T; p.R394*; 13:32684000-32684000	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2164delC; p.R724fs*32; 13:32732141-32732141	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.2164delC; p.R724fs*32; 13:32732141-32732141	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1180A>T; p.R394*; 13:32684000-32684000	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1180A>T; p.R394*; 13:32684000-32684000	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.346G>A; p.G116R; 13:32658272-32658272	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.347G>A; p.G116E; 13:32658273-32658273	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.682G>C; p.A228P; 13:32667821-32667821	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3207T>C; p.C1069C; 13:32758551-32758551	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3126G>A; p.K1042K; 13:32758156-32758156	skin	malignant_melanoma	Substitution - coding silent
c.3855delA; p.K1287fs*22; 13:32770351-32770351	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1007T>A; p.F336Y; 13:32678879-32678879	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.29A>C; p.D10A; 13:32648801-32648801	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2461G>C; p.E821Q; 13:32741134-32741134	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2155delA; p.G721fs*35; 13:32732132-32732132	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2576A>G; p.H859R; 13:32742691-32742691	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.605A>T; p.N202I; 13:32659261-32659261	breast	carcinoma	Substitution - Missense
c.3946delA; p.K1318fs*76; 13:32770442-32770442	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3946delA; p.K1318fs*76; 13:32770442-32770442	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3946delA; p.K1318fs*76; 13:32770442-32770442	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.3946delA; p.K1318fs*76; 13:32770442-32770442	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.3946delA; p.K1318fs*76; 13:32770442-32770442	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.3946delA; p.K1318fs*76; 13:32770442-32770442	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3946delA; p.K1318fs*76; 13:32770442-32770442	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3946delA; p.K1318fs*76; 13:32770442-32770442	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3946delA; p.K1318fs*76; 13:32770442-32770442	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3946delA; p.K1318fs*76; 13:32770442-32770442	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.3946delA; p.K1318fs*76; 13:32770442-32770442	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.3946delA; p.K1318fs*76; 13:32770442-32770442	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3452G>T; p.R1151L; 13:32760654-32760654	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1872A>G; p.Q624Q; 13:32706949-32706949	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3723G>A; p.Q1241Q; 13:32770219-32770219	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2467A>G; p.M823V; 13:32741140-32741140	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.2812G>C; p.E938Q; 13:32753407-32753407	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2163_2164insC; p.R724fs*16; 13:32732140-32732141	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Insertion - Frameshift
c.866G>A; p.R289H; 13:32675863-32675863	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.866G>A; p.R289H; 13:32675863-32675863	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.866G>A; p.R289H; 13:32675863-32675863	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2505G>A; p.W835*; 13:32742620-32742620	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.2930C>T; p.A977V; 13:32753525-32753525	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3899G>A; p.G1300D; 13:32770395-32770395	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.706delT; p.F237fs*5; 13:32673216-32673216	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.2999C>A; p.A1000E; 13:32755899-32755899	kidney	carcinoma; renal_cell_carcinoma	Substitution - Missense
c.853G>T; p.D285Y; 13:32675850-32675850	breast	carcinoma	Substitution - Missense
c.469C>T; p.L157L; 13:32658503-32658503	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1354C>T; p.R452*; 13:32687284-32687284	skin	malignant_melanoma	Substitution - Nonsense
c.624G>T; p.K208N; 13:32659280-32659280	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2997G>A; p.L999L; 13:32755897-32755897	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2221G>A; p.E741K; 13:32732198-32732198	NS	NS	Substitution - Missense
c.2740G>T; p.E914*; 13:32753335-32753335	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1213C>T; p.R405C; 13:32687143-32687143	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2740G>T; p.E914*; 13:32753335-32753335	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1213C>T; p.R405C; 13:32687143-32687143	prostate	carcinoma	Substitution - Missense
c.161A>T; p.E54V; 13:32651856-32651856	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2887G>C; p.V963L; 13:32753482-32753482	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1540A>T; p.K514*; 13:32694293-32694293	kidney	other; neoplasm	Substitution - Nonsense
c.1821_1822insAT; p.A609fs*1; 13:32701403-32701404	liver	carcinoma	Insertion - Frameshift
c.3852G>T; p.P1284P; 13:32770348-32770348	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2628A>T; p.S876S; 13:32745992-32745992	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3518G>A; p.R1173K; 13:32760720-32760720	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1181G>C; p.R394T; 13:32684001-32684001	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3518G>A; p.R1173K; 13:32760720-32760720	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4177G>A; p.V1393I; 13:32773193-32773193	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4319G>A; p.R1440Q; 13:32775027-32775027	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3984A>G; p.E1328E; 13:32770480-32770480	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4319G>A; p.R1440Q; 13:32775027-32775027	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.142G>T; p.D48Y; 13:32651837-32651837	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.926C>A; p.S309Y; 13:32675923-32675923	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1759T>C; p.L587L; 13:32701341-32701341	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.836_840delTTAAA; p.L281fs*3; 13:32673346-32673350	breast	carcinoma	Deletion - Frameshift
c.346G>T; p.G116W; 13:32658272-32658272	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4298C>A; p.S1433Y; 13:32773314-32773314	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]