Entrez Gene

Basic Information
Gene ID	257218
Name	SHPRH
Synonymous	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase;SHPRH;SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase
Definition	2610103K11Rik\|E3 ubiquitin-protein ligase SHPRH\|SNF2, histone-linker, PHD and RING finger domain-containing helicase
Position	6q24.3
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 0.20.

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.4447C>T; p.R1483C; 6:145910528-145910528	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4093C>T; p.R1365*; 6:145919419-145919419	breast	carcinoma	Substitution - Nonsense
c.2927G>T; p.R976M; 6:145934970-145934970	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1238C>A; p.P413Q; 6:145946316-145946316	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.548G>A; p.G183D; 6:145954775-145954775	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4322G>C; p.R1441P; 6:145913494-145913494	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.857A>C; p.Q286P; 6:145950389-145950389	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1972C>A; p.R658S; 6:145943409-145943409	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3698G>A; p.C1233Y; 6:145922696-145922696	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.502A>G; p.M168V; 6:145954821-145954821	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2128A>G; p.M710V; 6:145943253-145943253	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2128A>G; p.M710V; 6:145943253-145943253	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2327G>A; p.R776H; 6:145941786-145941786	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2327G>A; p.R776H; 6:145941786-145941786	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4476G>A; p.S1492S; 6:145910499-145910499	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.273T>G; p.I91M; 6:145955050-145955050	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4233T>C; p.L1411L; 6:145918164-145918164	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4640T>C; p.I1547T; 6:145894217-145894217	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4233T>C; p.L1411L; 6:145918164-145918164	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1373G>T; p.G458V; 6:145945586-145945586	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2386C>T; p.R796W; 6:145941727-145941727	prostate	carcinoma	Substitution - Missense
c.3655G>A; p.E1219K; 6:145922739-145922739	skin	malignant_melanoma	Substitution - Missense
c.3904G>C; p.E1302Q; 6:145921283-145921283	breast	carcinoma	Substitution - Missense
c.856C>T; p.Q286*; 6:145950390-145950390	central_nervous_system; brain	glioma	Substitution - Nonsense
c.1061+2T>G; p.?; 6:145948270-145948270	liver	carcinoma	Unknown
c.4106G>A; p.R1369H; 6:145919406-145919406	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4341G>T; p.W1447C; 6:145910634-145910634	skin; trunk	malignant_melanoma	Substitution - Missense
c.1494G>A; p.Q498Q; 6:145945465-145945465	liver	carcinoma	Substitution - coding silent
c.2124T>C; p.V708V; 6:145943257-145943257	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.752C>A; p.S251Y; 6:145952360-145952360	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1717C>T; p.R573C; 6:145943664-145943664	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1717C>T; p.R573C; 6:145943664-145943664	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2382C>T; p.R794R; 6:145941731-145941731	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1717C>T; p.R573C; 6:145943664-145943664	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4925T>C; p.I1642T; 6:145888062-145888062	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1796G>T; p.G599V; 6:145943585-145943585	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1536G>T; p.K512N; 6:145945423-145945423	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.559G>C; p.E187Q; 6:145954764-145954764	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3997G>A; p.E1333K; 6:145921190-145921190	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.528G>A; p.L176L; 6:145954795-145954795	breast	carcinoma	Substitution - coding silent
c.193G>A; p.V65M; 6:145955130-145955130	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3688G>C; p.A1230P; 6:145922706-145922706	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3983C>A; p.S1328*; 6:145921204-145921204	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1895G>C; p.C632S; 6:145943486-145943486	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.425G>T; p.S142I; 6:145954898-145954898	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1644_1664del21; p.E549_T555delEYLPSDT; 6:145943717-145943737	oesophagus	carcinoma; adenocarcinoma	Deletion - In frame
c.2408C>T; p.A803V; 6:145941705-145941705	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1109T>G; p.I370S; 6:145947596-145947596	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.403G>A; p.E135K; 6:145954920-145954920	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1626delG; p.N543fs*34; 6:145943755-145943755	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1507G>T; p.G503C; 6:145945452-145945452	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1563T>A; p.D521E; 6:145945396-145945396	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2755G>A; p.E919K; 6:145935142-145935142	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4853C>T; p.A1618V; 6:145893248-145893248	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2321T>C; p.V774A; 6:145941792-145941792	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2456A>G; p.D819G; 6:145941657-145941657	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2285delT; p.L762fs*6; 6:145941828-145941828	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3907C>T; p.R1303*; 6:145921280-145921280	autonomic_ganglia	neuroblastoma	Substitution - Nonsense
c.2296G>C; p.D766H; 6:145941817-145941817	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2264G>T; p.G755V; 6:145941849-145941849	prostate	carcinoma	Substitution - Missense
c.895G>T; p.A299S; 6:145950351-145950351	skin	malignant_melanoma	Substitution - Missense
c.3252G>T; p.L1084F; 6:145926273-145926273	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.366G>T; p.Q122H; 6:145954957-145954957	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2219C>T; p.S740L; 6:145943162-145943162	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma	Substitution - Missense
c.2197G>C; p.E733Q; 6:145943184-145943184	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2197G>C; p.E733Q; 6:145943184-145943184	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.4052A>T; p.N1351I; 6:145919460-145919460	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.743T>C; p.L248S; 6:145952369-145952369	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.2290G>T; p.E764*; 6:145941823-145941823	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3228+1G>T; p.?; 6:145927188-145927188	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1709G>T; p.R570M; 6:145943672-145943672	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1783C>T; p.P595S; 6:145943598-145943598	skin	malignant_melanoma	Substitution - Missense
c.226G>C; p.V76L; 6:145955097-145955097	breast	carcinoma	Substitution - Missense
c.1691A>G; p.Y564C; 6:145943690-145943690	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.495_496insA; p.E166fs*7; 6:145954827-145954828	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.495_496insA; p.E166fs*7; 6:145954827-145954828	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.495_496insA; p.E166fs*7; 6:145954827-145954828	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3556C>A; p.L1186I; 6:145923659-145923659	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.495_496insA; p.E166fs*7; 6:145954827-145954828	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.495_496insA; p.E166fs*7; 6:145954827-145954828	central_nervous_system; medulla	primitive_neuroectodermal_tumour-medulloblastoma; classic	Insertion - Frameshift
c.1321+1G>A; p.?; 6:145946232-145946232	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1609G>T; p.E537*; 6:145943772-145943772	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2559_2560delAG; p.G854fs*14; 6:145940732-145940733	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4088C>A; p.T1363K; 6:145919424-145919424	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2644C>T; p.R882W; 6:145935367-145935367	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1239G>A; p.P413P; 6:145946315-145946315	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2057C>A; p.A686E; 6:145943324-145943324	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1268A>G; p.K423R; 6:145946286-145946286	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1239G>A; p.P413P; 6:145946315-145946315	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - coding silent
c.4609G>A; p.V1537I; 6:145894896-145894896	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1815C>T; p.S605S; 6:145943566-145943566	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2046G>T; p.L682L; 6:145943335-145943335	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1394A>G; p.Y465C; 6:145945565-145945565	liver	carcinoma	Substitution - Missense
c.267T>C; p.V89V; 6:145955056-145955056	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1394A>G; p.Y465C; 6:145945565-145945565	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1239G>T; p.P413P; 6:145946315-145946315	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1394A>G; p.Y465C; 6:145945565-145945565	liver	carcinoma	Substitution - Missense
c.4160A>G; p.H1387R; 6:145919352-145919352	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1024G>A; p.E342K; 6:145948309-145948309	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1024G>A; p.E342K; 6:145948309-145948309	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1364G>A; p.G455E; 6:145945595-145945595	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3236A>G; p.H1079R; 6:145926289-145926289	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3462G>C; p.V1154V; 6:145923753-145923753	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2396A>T; p.K799M; 6:145941717-145941717	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4281A>G; p.T1427T; 6:145913535-145913535	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.3181C>T; p.R1061C; 6:145927236-145927236	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3181C>T; p.R1061C; 6:145927236-145927236	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3181C>T; p.R1061C; 6:145927236-145927236	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2138T>C; p.V713A; 6:145943243-145943243	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3570G>T; p.E1190D; 6:145923645-145923645	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.783A>C; p.E261D; 6:145950463-145950463	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4266+9delT; p.?; 6:145918122-145918122	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Unknown
c.2398C>T; p.R800C; 6:145941715-145941715	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.23C>T; p.A8V; 6:145955300-145955300	breast	carcinoma	Substitution - Missense
c.2476T>C; p.C826R; 6:145941637-145941637	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2950C>A; p.P984T; 6:145934947-145934947	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.495delA; p.E166fs*3; 6:145954828-145954828	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.495delA; p.E166fs*3; 6:145954828-145954828	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.495delA; p.E166fs*3; 6:145954828-145954828	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.495delA; p.E166fs*3; 6:145954828-145954828	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1455G>A; p.R485R; 6:145945504-145945504	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2103T>A; p.F701L; 6:145943278-145943278	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3306C>T; p.G1102G; 6:145926219-145926219	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1864G>T; p.E622*; 6:145943517-145943517	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2632C>T; p.R878*; 6:145935379-145935379	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1459C>T; p.L487L; 6:145945500-145945500	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1519A>T; p.T507S; 6:145945440-145945440	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2632C>T; p.R878*; 6:145935379-145935379	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.4816G>T; p.V1606L; 6:145893285-145893285	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2962C>T; p.R988C; 6:145934935-145934935	skin	malignant_melanoma	Substitution - Missense
c.1690T>C; p.Y564H; 6:145943691-145943691	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2658G>C; p.K886N; 6:145935353-145935353	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2983C>T; p.Q995*; 6:145934914-145934914	liver	carcinoma	Substitution - Nonsense
c.1632_1633GG>TA; p.K544_D545>NN; 6:145943748-145943749	skin; head_neck	carcinoma; squamous_cell_carcinoma	Complex - compound substitution
c.2286G>A; p.L762L; 6:145941827-145941827	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.207T>G; p.D69E; 6:145955116-145955116	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2719G>T; p.D907Y; 6:145935292-145935292	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2829_2830GG>AT; p.D944Y; 6:145935067-145935068	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2322A>G; p.V774V; 6:145941791-145941791	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.352G>T; p.E118*; 6:145954971-145954971	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2853G>A; p.K951K; 6:145935044-145935044	breast	carcinoma	Substitution - coding silent
c.64C>T; p.H22Y; 6:145955259-145955259	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1283A>G; p.N428S; 6:145946271-145946271	lung	carcinoid-endocrine_tumour; typical	Substitution - Missense
c.4054C>T; p.R1352C; 6:145919458-145919458	prostate	carcinoma	Substitution - Missense
c.4054C>T; p.R1352C; 6:145919458-145919458	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2021G>A; p.R674H; 6:145943360-145943360	prostate	carcinoma	Substitution - Missense
c.1422C>T; p.Y474Y; 6:145945537-145945537	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3795-1G>C; p.?; 6:145921393-145921393	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.3598C>A; p.Q1200K; 6:145922796-145922796	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1288G>A; p.E430K; 6:145946266-145946266	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1984A>G; p.I662V; 6:145943397-145943397	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1288G>A; p.E430K; 6:145946266-145946266	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1288G>A; p.E430K; 6:145946266-145946266	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1288G>A; p.E430K; 6:145946266-145946266	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4691G>C; p.R1564P; 6:145894166-145894166	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2775C>G; p.H925Q; 6:145935122-145935122	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - Missense
c.2644C>G; p.R882G; 6:145935367-145935367	skin	malignant_melanoma	Substitution - Missense
c.1333A>G; p.M445V; 6:145945626-145945626	prostate	carcinoma	Substitution - Missense
c.2519G>A; p.G840E; 6:145940773-145940773	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2307C>T; p.I769I; 6:145941806-145941806	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2307C>T; p.I769I; 6:145941806-145941806	skin	malignant_melanoma	Substitution - coding silent
c.2011C>T; p.R671C; 6:145943370-145943370	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2155C>T; p.L719L; 6:145943226-145943226	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4475C>T; p.S1492L; 6:145910500-145910500	skin	malignant_melanoma	Substitution - Missense
c.476A>C; p.D159A; 6:145954847-145954847	pancreas	carcinoma; adenocarcinoma	Substitution - Missense
c.476A>C; p.D159A; 6:145954847-145954847	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2174C>A; p.S725Y; 6:145943207-145943207	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1987T>C; p.C663R; 6:145943394-145943394	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2415delG; p.S806fs*4; 6:145941698-145941698	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.3478G>T; p.E1160*; 6:145923737-145923737	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.882T>G; p.D294E; 6:145950364-145950364	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.817A>T; p.I273F; 6:145950429-145950429	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.335G>T; p.W112L; 6:145954988-145954988	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.279C>T; p.S93S; 6:145955044-145955044	skin	malignant_melanoma	Substitution - coding silent
c.3794C>T; p.T1265I; 6:145922286-145922286	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1372G>T; p.G458*; 6:145945587-145945587	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.646C>G; p.L216V; 6:145952466-145952466	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.764-9G>C; p.?; 6:145950491-145950491	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Unknown
c.1173T>G; p.T391T; 6:145947532-145947532	bone; femur	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.13C>T; p.R5W; 6:145955310-145955310	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4899A>T; p.V1633V; 6:145888088-145888088	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1497C>T; p.I499I; 6:145945462-145945462	skin	malignant_melanoma	Substitution - coding silent
c.2020C>T; p.R674C; 6:145943361-145943361	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.553A>G; p.M185V; 6:145954770-145954770	urinary_tract; bladder	carcinoma	Substitution - Missense
c.277delT; p.S93fs*5; 6:145955046-145955046	stomach	adenocarcinoma	Deletion - Frameshift
c.4608C>T; p.L1536L; 6:145894897-145894897	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.277delT; p.S93fs*5; 6:145955046-145955046	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.277delT; p.S93fs*5; 6:145955046-145955046	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.277delT; p.S93fs*5; 6:145955046-145955046	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.277delT; p.S93fs*5; 6:145955046-145955046	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.277delT; p.S93fs*5; 6:145955046-145955046	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2534G>A; p.C845Y; 6:145940758-145940758	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3154G>A; p.A1052T; 6:145927263-145927263	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.375T>A; p.P125P; 6:145954948-145954948	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2085T>G; p.N695K; 6:145943296-145943296	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.908T>C; p.V303A; 6:145950338-145950338	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3677T>A; p.V1226D; 6:145922717-145922717	kidney	carcinoma	Substitution - Missense
c.2224T>A; p.S742T; 6:145943157-145943157	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1918G>A; p.D640N; 6:145943463-145943463	breast	carcinoma	Substitution - Missense
c.2378G>C; p.R793P; 6:145941735-145941735	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4178G>A; p.R1393Q; 6:145918219-145918219	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.4304C>A; p.P1435H; 6:145913512-145913512	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.134C>A; p.P45Q; 6:145955189-145955189	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.19C>G; p.R7G; 6:145955304-145955304	breast	carcinoma	Substitution - Missense
c.4560C>T; p.V1520V; 6:145894945-145894945	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2414C>T; p.P805L; 6:145941699-145941699	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3507G>A; p.Q1169Q; 6:145923708-145923708	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1906C>T; p.L636L; 6:145943475-145943475	skin	malignant_melanoma	Substitution - coding silent
c.2937G>T; p.Q979H; 6:145934960-145934960	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4759C>T; p.P1587S; 6:145893342-145893342	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2394G>A; p.Q798Q; 6:145941719-145941719	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2394G>A; p.Q798Q; 6:145941719-145941719	pancreas	carcinoma	Substitution - coding silent
c.2394G>A; p.Q798Q; 6:145941719-145941719	pancreas	carcinoma	Substitution - coding silent
c.2394G>A; p.Q798Q; 6:145941719-145941719	pancreas	carcinoma	Substitution - coding silent
c.40G>A; p.D14N; 6:145955283-145955283	breast	carcinoma	Substitution - Missense
c.2394G>A; p.Q798Q; 6:145941719-145941719	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.2394G>A; p.Q798Q; 6:145941719-145941719	pancreas	carcinoma	Substitution - coding silent
c.3076G>A; p.E1026K; 6:145933120-145933120	liver	carcinoma	Substitution - Missense
c.4520C>T; p.P1507L; 6:145910455-145910455	pancreas	carcinoma	Substitution - Missense
c.1978G>C; p.E660Q; 6:145943403-145943403	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1978G>C; p.E660Q; 6:145943403-145943403	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4871G>A; p.R1624Q; 6:145893230-145893230	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1363G>T; p.G455*; 6:145945596-145945596	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.2348A>T; p.D783V; 6:145941765-145941765	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1999G>A; p.D667N; 6:145943382-145943382	breast	carcinoma	Substitution - Missense
c.1384C>T; p.L462F; 6:145945575-145945575	skin	malignant_melanoma	Substitution - Missense
c.3744T>C; p.C1248C; 6:145922336-145922336	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4325A>G; p.Q1442R; 6:145913491-145913491	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2741T>G; p.I914R; 6:145935156-145935156	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4485T>C; p.F1495F; 6:145910490-145910490	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.595A>C; p.K199Q; 6:145954728-145954728	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.500C>T; p.P167L; 6:145954823-145954823	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3514C>T; p.R1172*; 6:145923701-145923701	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3514C>T; p.R1172*; 6:145923701-145923701	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Nonsense
c.2572C>A; p.L858I; 6:145935439-145935439	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2192T>C; p.V731A; 6:145943189-145943189	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4170A>G; p.E1390E; 6:145918227-145918227	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2780C>T; p.S927F; 6:145935117-145935117	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4170A>G; p.E1390E; 6:145918227-145918227	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.3222A>T; p.S1074S; 6:145927195-145927195	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.3222A>T; p.S1074S; 6:145927195-145927195	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.4761C>T; p.P1587P; 6:145893340-145893340	skin	malignant_melanoma	Substitution - coding silent
c.3595A>C; p.T1199P; 6:145922799-145922799	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.337A>G; p.K113E; 6:145954986-145954986	skin	malignant_melanoma	Substitution - Missense
c.2661G>A; p.K887K; 6:145935350-145935350	breast	carcinoma	Substitution - coding silent
c.3056A>C; p.K1019T; 6:145933140-145933140	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3285A>T; p.I1095I; 6:145926240-145926240	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.681G>C; p.L227F; 6:145952431-145952431	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.681G>C; p.L227F; 6:145952431-145952431	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3298C>T; p.R1100C; 6:145926227-145926227	breast	carcinoma	Substitution - Missense
c.4606C>G; p.L1536V; 6:145894899-145894899	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.20G>A; p.R7H; 6:145955303-145955303	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4903A>G; p.R1635G; 6:145888084-145888084	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2313C>T; p.T771T; 6:145941800-145941800	pancreas	carcinoma	Substitution - coding silent
c.2390A>G; p.N797S; 6:145941723-145941723	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1674T>C; p.D558D; 6:145943707-145943707	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1974C>T; p.R658R; 6:145943407-145943407	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.2313C>T; p.T771T; 6:145941800-145941800	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.2149G>A; p.A717T; 6:145943232-145943232	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4100G>C; p.R1367T; 6:145919412-145919412	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3716G>A; p.R1239K; 6:145922678-145922678	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1540T>G; p.Y514D; 6:145945419-145945419	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3334C>T; p.R1112*; 6:145924834-145924834	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4805A>G; p.H1602R; 6:145893296-145893296	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4560C>G; p.V1520V; 6:145894945-145894945	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2377C>T; p.R793C; 6:145941736-145941736	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4855A>G; p.I1619V; 6:145893246-145893246	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.519G>T; p.K173N; 6:145954804-145954804	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1371delA; p.G458fs*26; 6:145945588-145945588	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1371delA; p.G458fs*26; 6:145945588-145945588	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1371delA; p.G458fs*26; 6:145945588-145945588	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1101T>C; p.L367L; 6:145947604-145947604	pancreas	carcinoma	Substitution - coding silent
c.1101T>C; p.L367L; 6:145947604-145947604	pancreas	carcinoma	Substitution - coding silent
c.4708-3delT; p.?; 6:145893396-145893396	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1232T>G; p.F411C; 6:145946322-145946322	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3832G>A; p.E1278K; 6:145921355-145921355	urinary_tract; bladder	carcinoma	Substitution - Missense
c.750T>A; p.N250K; 6:145952362-145952362	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2569+6G>T; p.?; 6:145940717-145940717	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.4691G>A; p.R1564H; 6:145894166-145894166	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4105C>T; p.R1369C; 6:145919407-145919407	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4105C>T; p.R1369C; 6:145919407-145919407	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4105C>T; p.R1369C; 6:145919407-145919407	ovary	carcinoma	Substitution - Missense
c.611C>A; p.P204Q; 6:145954712-145954712	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.249T>C; p.I83I; 6:145955074-145955074	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4823C>T; p.P1608L; 6:145893278-145893278	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3859C>T; p.R1287*; 6:145921328-145921328	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1175G>A; p.R392Q; 6:145947530-145947530	breast	carcinoma	Substitution - Missense
c.246A>G; p.P82P; 6:145955077-145955077	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1973G>A; p.R658H; 6:145943408-145943408	large_intestine; colon	carcinoma; adenocarcinoma	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]