Entrez Gene

Basic Information
Gene ID	23513
Name	SCRIB
Synonymous	scribbled planar cell polarity protein;SCRIB;scribbled planar cell polarity protein
Definition	protein scribble homolog\|scribbled homolog
Position	8q24.3
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 0.07.

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.3964A>T; p.R1322W; 8:143793029-143793029	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1036C>T; p.R346C; 8:143811216-143811216	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3635C>T; p.A1212V; 8:143795499-143795499	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3838G>A; p.V1280M; 8:143795046-143795046	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3055G>A; p.V1019I; 8:143804111-143804111	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1962T>G; p.A654A; 8:143808762-143808762	skin	malignant_melanoma	Substitution - coding silent
c.3828C>T; p.S1276S; 8:143795056-143795056	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3445G>A; p.G1149S; 8:143803541-143803541	soft_tissue; blood_vessel	angiosarcoma	Substitution - Missense
c.3367G>A; p.A1123T; 8:143803694-143803694	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.856G>T; p.G286W; 8:143812316-143812316	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.863delG; p.C288fs*7; 8:143812309-143812309	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.2808C>T; p.T936T; 8:143804769-143804769	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.863delG; p.C288fs*7; 8:143812309-143812309	stomach	adenocarcinoma	Deletion - Frameshift
c.1577C>T; p.P526L; 8:143809672-143809672	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3186C>T; p.N1062N; 8:143803875-143803875	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3059G>C; p.G1020A; 8:143804107-143804107	ovary	other; neoplasm	Substitution - Missense
c.3059G>C; p.G1020A; 8:143804107-143804107	ovary	other; neoplasm	Substitution - Missense
c.639C>T; p.P213P; 8:143813033-143813033	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1322C>T; p.P441L; 8:143810768-143810768	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2895delC; p.T966fs*9; 8:143804682-143804682	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2619C>A; p.G873G; 8:143805163-143805163	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.4113G>T; p.E1371D; 8:143792772-143792772	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3832G>C; p.G1278R; 8:143795052-143795052	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.4448G>A; p.R1483H; 8:143792286-143792286	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2452G>A; p.E818K; 8:143805330-143805330	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.954C>T; p.N318N; 8:143811298-143811298	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2270G>A; p.G757D; 8:143806483-143806483	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2270G>A; p.G757D; 8:143806483-143806483	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2270G>A; p.G757D; 8:143806483-143806483	large_intestine; colon	carcinoma	Substitution - Missense
c.2270G>A; p.G757D; 8:143806483-143806483	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2680G>A; p.V894I; 8:143805005-143805005	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1261C>T; p.P421S; 8:143810918-143810918	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3210G>A; p.T1070T; 8:143803851-143803851	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2801T>A; p.L934Q; 8:143804776-143804776	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3385C>T; p.P1129S; 8:143803676-143803676	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4484C>T; p.A1495V; 8:143792250-143792250	skin	malignant_melanoma	Substitution - Missense
c.682T>C; p.S228P; 8:143812922-143812922	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4065G>A; p.R1355R; 8:143792820-143792820	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3775C>T; p.R1259W; 8:143795109-143795109	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1389T>G; p.A463A; 8:143810701-143810701	kidney	carcinoma; renal_cell_carcinoma	Substitution - coding silent
c.1403G>A; p.R468Q; 8:143810687-143810687	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.909C>T; p.A303A; 8:143811343-143811343	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.401C>T; p.A134V; 8:143813682-143813682	skin	malignant_melanoma	Substitution - Missense
c.3292C>T; p.L1098L; 8:143803769-143803769	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.3448C>T; p.R1150W; 8:143803538-143803538	skin	malignant_melanoma	Substitution - Missense
c.3292C>T; p.L1098L; 8:143803769-143803769	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2604C>T; p.S868S; 8:143805178-143805178	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3811C>G; p.L1271V; 8:143795073-143795073	skin	malignant_melanoma	Substitution - Missense
c.1680C>G; p.A560A; 8:143809569-143809569	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.641C>T; p.P214L; 8:143813031-143813031	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3466C>T; p.R1156W; 8:143803520-143803520	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1127C>T; p.A376V; 8:143811052-143811052	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1127C>T; p.A376V; 8:143811052-143811052	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3000C>T; p.Y1000Y; 8:143804577-143804577	skin	malignant_melanoma	Substitution - coding silent
c.3209C>T; p.T1070M; 8:143803852-143803852	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4568C>T; p.S1523F; 8:143792080-143792080	skin	malignant_melanoma	Substitution - Missense
c.2623A>T; p.S875C; 8:143805159-143805159	kidney	other; neoplasm	Substitution - Missense
c.2663G>T; p.G888V; 8:143805119-143805119	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1144C>T; p.L382F; 8:143811035-143811035	skin	malignant_melanoma	Substitution - Missense
c.450C>G; p.L150L; 8:143813523-143813523	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.3138G>T; p.L1046L; 8:143803923-143803923	breast	carcinoma	Substitution - coding silent
c.450C>G; p.L150L; 8:143813523-143813523	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.962G>A; p.R321Q; 8:143811290-143811290	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4023delC; p.T1342fs*165; 8:143792862-143792862	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3158G>A; p.R1053Q; 8:143803903-143803903	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1092C>T; p.D364D; 8:143811160-143811160	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.213_214CC>TT; p.Q72*; 8:143814064-143814065	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1265C>T; p.P422L; 8:143810914-143810914	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1597G>A; p.E533K; 8:143809652-143809652	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3382G>A; p.D1128N; 8:143803679-143803679	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3064T>A; p.S1022T; 8:143804102-143804102	skin	malignant_melanoma	Substitution - Missense
c.1265C>T; p.P422L; 8:143810914-143810914	thyroid	other; neoplasm	Substitution - Missense
c.1265C>T; p.P422L; 8:143810914-143810914	thyroid	other; neoplasm	Substitution - Missense
c.538G>C; p.D180H; 8:143813340-143813340	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4710G>C; p.K1570N; 8:143791726-143791726	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.4710G>C; p.K1570N; 8:143791726-143791726	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3531C>T; p.L1177L; 8:143803455-143803455	skin	malignant_melanoma	Substitution - coding silent
c.1540C>A; p.L514M; 8:143809709-143809709	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3454_3455delCG; p.R1152fs*38; 8:143803531-143803532	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.1055C>T; p.P352L; 8:143811197-143811197	skin	malignant_melanoma	Substitution - Missense
c.4009C>T; p.P1337S; 8:143792984-143792984	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2120T>C; p.V707A; 8:143807610-143807610	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.691C>T; p.R231W; 8:143812913-143812913	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4877C>T; p.P1626L; 8:143791254-143791254	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3089G>A; p.G1030D; 8:143804077-143804077	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1811G>T; p.R604L; 8:143808913-143808913	thyroid	other; neoplasm	Substitution - Missense
c.691C>T; p.R231W; 8:143812913-143812913	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.167delT; p.F56fs*4; 8:143814111-143814111	skin; neck	malignant_melanoma	Deletion - Frameshift
c.2408C>T; p.A803V; 8:143805374-143805374	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1437C>T; p.S479S; 8:143810572-143810572	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2934C>A; p.T978T; 8:143804643-143804643	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.778G>A; p.D260N; 8:143812826-143812826	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3616G>A; p.V1206I; 8:143795518-143795518	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3816C>T; p.A1272A; 8:143795068-143795068	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.995G>T; p.G332V; 8:143811257-143811257	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1570T>C; p.S524P; 8:143809679-143809679	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3610C>A; p.P1204T; 8:143795524-143795524	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.503+1G>A; p.?; 8:143813469-143813469	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1445A>G; p.K482R; 8:143810564-143810564	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.438C>T; p.D146D; 8:143813645-143813645	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.953A>G; p.N318S; 8:143811299-143811299	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.438C>T; p.D146D; 8:143813645-143813645	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1057G>T; p.E353*; 8:143811195-143811195	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3346C>T; p.R1116C; 8:143803715-143803715	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1445A>G; p.K482R; 8:143810564-143810564	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.693G>A; p.R231R; 8:143812911-143812911	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4470C>A; p.L1490L; 8:143792264-143792264	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2695G>A; p.E899K; 8:143804990-143804990	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1808T>A; p.I603N; 8:143808916-143808916	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4059C>T; p.S1353S; 8:143792826-143792826	skin	malignant_melanoma	Substitution - coding silent
c.4059C>T; p.S1353S; 8:143792826-143792826	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4059C>T; p.S1353S; 8:143792826-143792826	skin	malignant_melanoma	Substitution - coding silent
c.794T>G; p.L265R; 8:143812378-143812378	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.718G>A; p.G240S; 8:143812886-143812886	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4437G>A; p.P1479P; 8:143792297-143792297	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4339G>A; p.A1447T; 8:143792395-143792395	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2151A>T; p.I717I; 8:143807579-143807579	pancreas	carcinoma	Substitution - coding silent
c.1966C>T; p.R656W; 8:143808758-143808758	urinary_tract; bladder	carcinoma	Substitution - Missense
c.635T>C; p.L212P; 8:143813037-143813037	large_intestine; colon	carcinoma	Substitution - Missense
c.2190T>C; p.T730T; 8:143807002-143807002	breast	carcinoma	Substitution - coding silent
c.898C>A; p.L300M; 8:143812274-143812274	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.2190T>C; p.T730T; 8:143807002-143807002	thyroid	other; neoplasm	Substitution - coding silent
c.3873G>A; p.K1291K; 8:143793936-143793936	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.888C>T; p.L296L; 8:143812284-143812284	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.184C>T; p.R62C; 8:143814094-143814094	pancreas	carcinoma	Substitution - Missense
c.1798C>T; p.Q600*; 8:143808926-143808926	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1722C>T; p.D574D; 8:143809002-143809002	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3083C>A; p.P1028Q; 8:143804083-143804083	thyroid	other; neoplasm	Substitution - Missense
c.4587G>T; p.T1529T; 8:143792061-143792061	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.83C>A; p.P28Q; 8:143815290-143815290	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.433G>C; p.G145R; 8:143813650-143813650	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1331G>A; p.R444H; 8:143810759-143810759	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1262delC; p.P421fs*35; 8:143810917-143810917	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4096C>T; p.R1366C; 8:143792789-143792789	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4350A>G; p.P1450P; 8:143792384-143792384	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4350A>G; p.P1450P; 8:143792384-143792384	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4350A>G; p.P1450P; 8:143792384-143792384	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4350A>G; p.P1450P; 8:143792384-143792384	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4350A>G; p.P1450P; 8:143792384-143792384	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4350A>G; p.P1450P; 8:143792384-143792384	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3128C>T; p.P1043L; 8:143803933-143803933	kidney	carcinoma; renal_cell_carcinoma	Substitution - Missense
c.1765C>T; p.P589S; 8:143808959-143808959	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4350A>G; p.P1450P; 8:143792384-143792384	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4350A>G; p.P1450P; 8:143792384-143792384	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4350A>G; p.P1450P; 8:143792384-143792384	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4098C>T; p.R1366R; 8:143792787-143792787	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.840G>T; p.E280D; 8:143812332-143812332	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4046C>T; p.P1349L; 8:143792839-143792839	liver	carcinoma	Substitution - Missense
c.4046C>T; p.P1349L; 8:143792839-143792839	liver	carcinoma	Substitution - Missense
c.1828_1829insT; p.Y610fs*26; 8:143808895-143808896	ovary	carcinoma; serous_carcinoma	Insertion - Frameshift
c.2073_2074GG>AA; p.E692K; 8:143808650-143808651	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2573G>A; p.R858H; 8:143805209-143805209	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3237C>T; p.L1079L; 8:143803824-143803824	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1738delG; p.D580fs*95; 8:143808986-143808986	breast	carcinoma	Deletion - Frameshift
c.2210G>T; p.G737V; 8:143806982-143806982	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3943G>A; p.A1315T; 8:143793050-143793050	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3641G>A; p.G1214D; 8:143795493-143795493	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2889A>C; p.S963S; 8:143804688-143804688	ovary	other; neoplasm	Substitution - coding silent
c.2584G>A; p.V862M; 8:143805198-143805198	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3070C>T; p.H1024Y; 8:143804096-143804096	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4579C>T; p.R1527W; 8:143792069-143792069	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4186C>T; p.L1396L; 8:143792627-143792627	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4710G>T; p.K1570N; 8:143791726-143791726	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.678C>T; p.D226D; 8:143812926-143812926	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.65G>A; p.C22Y; 8:143815308-143815308	large_intestine; colon	carcinoma	Substitution - Missense
c.65G>A; p.C22Y; 8:143815308-143815308	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.678C>T; p.D226D; 8:143812926-143812926	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4603C>T; p.R1535*; 8:143792045-143792045	NS	malignant_melanoma	Substitution - Nonsense
c.2948G>T; p.G983V; 8:143804629-143804629	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3518C>T; p.A1173V; 8:143803468-143803468	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1987G>C; p.E663Q; 8:143808737-143808737	breast	carcinoma	Substitution - Missense
c.2938G>A; p.G980R; 8:143804639-143804639	thyroid	other; neoplasm	Substitution - Missense
c.1396G>C; p.E466Q; 8:143810694-143810694	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3296G>A; p.R1099Q; 8:143803765-143803765	breast	carcinoma	Substitution - Missense
c.1714G>T; p.A572S; 8:143809010-143809010	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2938G>A; p.G980R; 8:143804639-143804639	breast	carcinoma	Substitution - Missense
c.2996C>T; p.P999L; 8:143804581-143804581	skin	malignant_melanoma	Substitution - Missense
c.3036C>T; p.G1012G; 8:143804130-143804130	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3826A>G; p.S1276G; 8:143795058-143795058	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.366T>G; p.D122E; 8:143813717-143813717	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3714+9T>C; p.?; 8:143795411-143795411	liver	carcinoma	Unknown
c.3454C>T; p.R1152C; 8:143803532-143803532	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3603+7G>A; p.?; 8:143803376-143803376	pancreas	carcinoma	Unknown
c.1289A>G; p.Q430R; 8:143810801-143810801	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3715_3717delGAG; p.E1239delE; 8:143795331-143795333	large_intestine	carcinoma; adenocarcinoma	Deletion - In frame
c.1289A>G; p.Q430R; 8:143810801-143810801	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1289A>G; p.Q430R; 8:143810801-143810801	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1289A>G; p.Q430R; 8:143810801-143810801	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1289A>G; p.Q430R; 8:143810801-143810801	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1289A>G; p.Q430R; 8:143810801-143810801	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1289A>G; p.Q430R; 8:143810801-143810801	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2820delC; p.T941fs*34; 8:143804757-143804757	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3914C>T; p.P1305L; 8:143793079-143793079	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1289A>G; p.Q430R; 8:143810801-143810801	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1289A>G; p.Q430R; 8:143810801-143810801	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3199C>T; p.R1067W; 8:143803862-143803862	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2070G>A; p.E690E; 8:143808654-143808654	bone; femur	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.3677C>T; p.S1226F; 8:143795457-143795457	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1635T>G; p.G545G; 8:143809614-143809614	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2954C>T; p.P985L; 8:143804623-143804623	pancreas	carcinoma	Substitution - Missense
c.1635T>G; p.G545G; 8:143809614-143809614	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3576T>C; p.F1192F; 8:143803410-143803410	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3576T>C; p.F1192F; 8:143803410-143803410	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3576T>C; p.F1192F; 8:143803410-143803410	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1635T>G; p.G545G; 8:143809614-143809614	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3576T>C; p.F1192F; 8:143803410-143803410	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3576T>C; p.F1192F; 8:143803410-143803410	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1635T>G; p.G545G; 8:143809614-143809614	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2809G>A; p.A937T; 8:143804768-143804768	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3576T>C; p.F1192F; 8:143803410-143803410	thyroid	other; neoplasm	Substitution - coding silent
c.3576T>C; p.F1192F; 8:143803410-143803410	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1635T>G; p.G545G; 8:143809614-143809614	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.4565G>T; p.R1522M; 8:143792083-143792083	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.750G>T; p.L250L; 8:143812854-143812854	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1070C>T; p.T357M; 8:143811182-143811182	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3807C>T; p.R1269R; 8:143795077-143795077	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3507G>A; p.T1169T; 8:143803479-143803479	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1926C>G; p.P642P; 8:143808798-143808798	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2082G>A; p.K694K; 8:143808642-143808642	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4127G>A; p.R1376H; 8:143792758-143792758	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1680C>T; p.A560A; 8:143809569-143809569	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4663G>A; p.G1555S; 8:143791908-143791908	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1589_1590delCA; p.T530fs*3; 8:143809659-143809660	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Deletion - Frameshift
c.3754G>A; p.E1252K; 8:143795294-143795294	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.739G>T; p.D247Y; 8:143812865-143812865	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4058_4059CC>TT; p.S1353F; 8:143792826-143792827	skin	malignant_melanoma	Substitution - Missense
c.4126C>T; p.R1376C; 8:143792759-143792759	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4514+2T>C; p.?; 8:143792218-143792218	stomach	carcinoma; adenocarcinoma	Unknown
c.3426G>T; p.T1142T; 8:143803560-143803560	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1509G>C; p.G503G; 8:143810500-143810500	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2937delC; p.V981fs*81; 8:143804640-143804640	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.2166T>C; p.I722I; 8:143807564-143807564	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2274A>C; p.I758I; 8:143806479-143806479	liver	carcinoma	Substitution - coding silent
c.2274A>C; p.I758I; 8:143806479-143806479	liver	carcinoma	Substitution - coding silent
c.2008C>T; p.Q670*; 8:143808716-143808716	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.4580G>A; p.R1527Q; 8:143792068-143792068	kidney	carcinoma; renal_cell_carcinoma	Substitution - Missense
c.610C>G; p.L204V; 8:143813062-143813062	central_nervous_system; brain	glioma	Substitution - Missense
c.4128C>T; p.R1376R; 8:143792757-143792757	stomach	adenocarcinoma	Substitution - coding silent
c.1774C>T; p.P592S; 8:143808950-143808950	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1181C>T; p.P394L; 8:143810998-143810998	skin	malignant_melanoma	Substitution - Missense
c.1257G>A; p.Q419Q; 8:143810922-143810922	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2578C>T; p.R860C; 8:143805204-143805204	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3145C>T; p.R1049C; 8:143803916-143803916	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4799C>T; p.S1600F; 8:143791412-143791412	skin	malignant_melanoma	Substitution - Missense
c.4192C>T; p.Q1398*; 8:143792621-143792621	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1117C>T; p.L373L; 8:143811062-143811062	skin	malignant_melanoma	Substitution - coding silent
c.1591G>A; p.V531I; 8:143809658-143809658	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3483C>T; p.N1161N; 8:143803503-143803503	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.229G>A; p.E77K; 8:143814049-143814049	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2523A>G; p.G841G; 8:143805259-143805259	thyroid	other; neoplasm	Substitution - coding silent
c.685G>A; p.E229K; 8:143812919-143812919	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.625C>T; p.L209L; 8:143813047-143813047	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.685G>A; p.E229K; 8:143812919-143812919	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2152G>C; p.E718Q; 8:143807578-143807578	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2380C>T; p.H794Y; 8:143805402-143805402	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1677C>T; p.D559D; 8:143809572-143809572	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1734C>T; p.P578P; 8:143808990-143808990	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2718G>A; p.A906A; 8:143804967-143804967	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.1345C>T; p.Q449*; 8:143810745-143810745	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2090C>T; p.A697V; 8:143808634-143808634	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2612G>T; p.G871V; 8:143805170-143805170	ovary	other; neoplasm	Substitution - Missense
c.2612G>T; p.G871V; 8:143805170-143805170	ovary	other; neoplasm	Substitution - Missense
c.1136A>C; p.H379P; 8:143811043-143811043	breast	carcinoma	Substitution - Missense
c.1608C>T; p.P536P; 8:143809641-143809641	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1488C>T; p.C496C; 8:143810521-143810521	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1950C>T; p.H650H; 8:143808774-143808774	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1188C>T; p.L396L; 8:143810991-143810991	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1525G>C; p.E509Q; 8:143810484-143810484	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1986G>T; p.E662D; 8:143808738-143808738	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.745C>T; p.L249L; 8:143812859-143812859	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3164G>T; p.G1055V; 8:143803897-143803897	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1927G>A; p.G643R; 8:143808797-143808797	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.892G>A; p.E298K; 8:143812280-143812280	skin	malignant_melanoma	Substitution - Missense
c.2387C>T; p.A796V; 8:143805395-143805395	skin	malignant_melanoma	Substitution - Missense
c.3442G>A; p.D1148N; 8:143803544-143803544	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2387C>T; p.A796V; 8:143805395-143805395	skin	malignant_melanoma	Substitution - Missense
c.2622C>T; p.F874F; 8:143805160-143805160	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4177G>A; p.A1393T; 8:143792708-143792708	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.489C>G; p.L163L; 8:143813484-143813484	breast	carcinoma	Substitution - coding silent
c.1400A>T; p.K467M; 8:143810690-143810690	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2099C>T; p.S700F; 8:143808625-143808625	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2099C>T; p.S700F; 8:143808625-143808625	pancreas	NS	Substitution - Missense
c.156C>T; p.P52P; 8:143815217-143815217	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1967G>A; p.R656Q; 8:143808757-143808757	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3650A>C; p.H1217P; 8:143795484-143795484	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.3650A>C; p.H1217P; 8:143795484-143795484	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1207G>T; p.D403Y; 8:143810972-143810972	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.1927G>T; p.G643W; 8:143808797-143808797	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3088G>A; p.G1030S; 8:143804078-143804078	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3035G>A; p.G1012D; 8:143804131-143804131	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3768C>T; p.A1256A; 8:143795280-143795280	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.829C>T; p.R277W; 8:143812343-143812343	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3230C>T; p.A1077V; 8:143803831-143803831	skin	malignant_melanoma	Substitution - Missense
c.3352G>A; p.G1118S; 8:143803709-143803709	liver	carcinoma	Substitution - Missense
c.3352G>A; p.G1118S; 8:143803709-143803709	liver	carcinoma	Substitution - Missense
c.960C>A; p.D320E; 8:143811292-143811292	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4348C>T; p.P1450S; 8:143792386-143792386	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4070G>A; p.R1357Q; 8:143792815-143792815	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3415-3C>A; p.?; 8:143803574-143803574	liver	carcinoma	Unknown
c.3415-3C>A; p.?; 8:143803574-143803574	liver	carcinoma	Unknown
c.493T>C; p.S165P; 8:143813480-143813480	skin	malignant_melanoma	Substitution - Missense
c.4809A>G; p.P1603P; 8:143791402-143791402	skin; trunk	malignant_melanoma; nodular	Substitution - coding silent
c.1681G>A; p.E561K; 8:143809568-143809568	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4041C>T; p.A1347A; 8:143792844-143792844	skin	malignant_melanoma	Substitution - coding silent
c.4350delA; p.L1452fs*55; 8:143792384-143792384	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1350C>T; p.F450F; 8:143810740-143810740	breast	carcinoma	Substitution - coding silent
c.4350delA; p.L1452fs*55; 8:143792384-143792384	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift

Mutation summary in protein domains

Top

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

Top

Loss of Function mutations compare to missense mutations

Top

The copy number variations for various cancers

Top

COSMIC somatic mutation [Top]