Entrez Gene

Basic Information
Gene ID	1654
Name	DDX3X
Synonymous	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked;DDX3X;DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked
Definition	ATP-dependent RNA helicase DDX3X\|DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked\|DEAD box protein 3, X-chromosomal\|DEAD box, X isoform\|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3\|DEAD/H box-3\|helicase-like protein 2
Position	Xp11.3-p11.23
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

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We used uniprot protein structure data from ensemble BioMart database. The size of circle shows the relative mutation number.

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

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The non-synonymous mutational pattern in 17 major cancer types.

The synonymous mutational pattern in 17 major cancer types.

Loss of Function mutations compare to missense mutations

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The ratio of the loss-of-function mutations over missense mutations is 0.07.

The copy number variations for various cancers

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There is no record for DDX3X

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.152-1G>T; p.?; 23:41341483-41341483	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.881G>C; p.R294T; 23:41344255-41344255	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.881G>C; p.R294T; 23:41344255-41344255	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.881G>C; p.R294T; 23:41344255-41344255	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.864+2T>G; p.?; 23:41344130-41344130	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Burkitt_lymphoma	Unknown
c.788G>A; p.R263H; 23:41344052-41344052	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.481G>C; p.E161Q; 23:41342774-41342774	urinary_tract; bladder	carcinoma	Substitution - Missense
c.624G>T; p.K208N; 23:41343296-41343296	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1643G>C; p.R548T; 23:41346886-41346886	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1235C>T; p.S412F; 23:41345468-41345468	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1235C>T; p.S412F; 23:41345468-41345468	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.394G>A; p.D132N; 23:41342604-41342604	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.853G>A; p.E285K; 23:41344117-41344117	skin	malignant_melanoma	Substitution - Missense
c.1235C>T; p.S412F; 23:41345468-41345468	skin	malignant_melanoma	Substitution - Missense
c.1235C>T; p.S412F; 23:41345468-41345468	skin	malignant_melanoma	Substitution - Missense
c.1321G>C; p.D441H; 23:41346234-41346234	breast	carcinoma	Substitution - Missense
c.1060G>C; p.D354H; 23:41345214-41345214	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.103+2T>C; p.?; 23:41337467-41337467	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Burkitt_lymphoma	Unknown
c.642C>G; p.I214M; 23:41343314-41343314	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1516G>T; p.D506Y; 23:41346523-41346523	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.278delG; p.G94fs*127; 23:41341610-41341610	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.1084C>T; p.R362C; 23:41345238-41345238	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.824C>T; p.T275M; 23:41344088-41344088	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.824C>T; p.T275M; 23:41344088-41344088	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.824C>T; p.T275M; 23:41344088-41344088	central_nervous_system; brainstem	primitive_neuroectodermal_tumour-medulloblastoma; WNT_subtype	Substitution - Missense
c.824C>T; p.T275M; 23:41344088-41344088	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma	Substitution - Missense
c.1084C>T; p.R362C; 23:41345238-41345238	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.596G>C; p.R199P; 23:41343268-41343268	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.905G>T; p.G302V; 23:41344279-41344279	central_nervous_system; cerebellum	primitive_neuroectodermal_tumour-medulloblastoma; SHH_subtype	Substitution - Missense
c.1895G>T; p.R632I; 23:41347437-41347437	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1147G>A; p.A383T; 23:41345301-41345301	skin	malignant_melanoma	Substitution - Missense
c.20delA; p.N8fs*12; 23:41334272-41334272	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.905G>T; p.G302V; 23:41344279-41344279	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma	Substitution - Missense
c.1439G>A; p.R480K; 23:41346352-41346352	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1439G>A; p.R480K; 23:41346352-41346352	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.785G>A; p.R262H; 23:41344049-41344049	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1594A>G; p.T532A; 23:41346601-41346601	pancreas	carcinoma	Substitution - Missense
c.1594A>G; p.T532A; 23:41346601-41346601	pancreas	carcinoma	Substitution - Missense
c.1594A>G; p.T532A; 23:41346601-41346601	skin	malignant_melanoma	Substitution - Missense
c.1594A>G; p.T532A; 23:41346601-41346601	pancreas	carcinoma	Substitution - Missense
c.1703C>T; p.P568L; 23:41346946-41346946	central_nervous_system; cerebellum	primitive_neuroectodermal_tumour-medulloblastoma; SHH_subtype	Substitution - Missense
c.1703C>T; p.P568L; 23:41346946-41346946	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1703C>T; p.P568L; 23:41346946-41346946	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1703C>T; p.P568L; 23:41346946-41346946	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1600C>T; p.R534C; 23:41346607-41346607	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1600C>T; p.R534C; 23:41346607-41346607	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.295C>T; p.R99C; 23:41342505-41342505	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.723G>A; p.Q241Q; 23:41343780-41343780	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1022G>T; p.C341F; 23:41344396-41344396	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; NK-T_cell_lymphoma	Substitution - Missense
c.1486G>A; p.V496M; 23:41346399-41346399	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1048G>A; p.D350N; 23:41345202-41345202	breast	carcinoma	Substitution - Missense
c.538G>C; p.E180Q; 23:41342831-41342831	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1402T>C; p.C468R; 23:41346315-41346315	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.122C>T; p.P41L; 23:41339054-41339054	skin	malignant_melanoma	Substitution - Missense
c.337A>G; p.R113G; 23:41342547-41342547	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1171-2A>T; p.?; 23:41345402-41345402	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Unknown
c.961G>T; p.V321L; 23:41344335-41344335	breast	carcinoma	Substitution - Missense
c.938T>C; p.L313S; 23:41344312-41344312	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1583G>A; p.R528H; 23:41346590-41346590	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1583G>A; p.R528H; 23:41346590-41346590	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1543A>G; p.N515D; 23:41346550-41346550	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.829G>C; p.E277Q; 23:41344093-41344093	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1600C>A; p.R534S; 23:41346607-41346607	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1600C>A; p.R534S; 23:41346607-41346607	NS	NS	Substitution - Missense
c.1600C>A; p.R534S; 23:41346607-41346607	NS	NS	Substitution - Missense
c.1463G>A; p.R488H; 23:41346376-41346376	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; NK-T_cell_lymphoma	Substitution - Missense
c.327C>T; p.S109S; 23:41342537-41342537	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1066G>A; p.G356R; 23:41345220-41345220	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1282C>T; p.R428W; 23:41345515-41345515	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.799C>T; p.P267S; 23:41344063-41344063	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1852G>A; p.A618T; 23:41347394-41347394	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.571A>C; p.I191L; 23:41343243-41343243	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.890C>T; p.P297L; 23:41344264-41344264	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.571A>C; p.I191L; 23:41343243-41343243	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.655G>T; p.D219Y; 23:41343327-41343327	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; NK-T_cell_lymphoma	Substitution - Missense
c.536T>C; p.I179T; 23:41342829-41342829	breast	carcinoma	Substitution - Missense
c.1061A>T; p.D354V; 23:41345215-41345215	urinary_tract; bladder	carcinoma	Substitution - Missense
c.869C>T; p.S290L; 23:41344243-41344243	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1061A>T; p.D354V; 23:41345215-41345215	central_nervous_system; brainstem	primitive_neuroectodermal_tumour-medulloblastoma; WNT_subtype	Substitution - Missense
c.1220G>C; p.R407T; 23:41345453-41345453	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1177G>A; p.A393T; 23:41345410-41345410	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.989T>A; p.M330K; 23:41344363-41344363	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.989T>A; p.M330K; 23:41344363-41344363	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.199G>T; p.D67Y; 23:41341531-41341531	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1393G>T; p.G465*; 23:41346306-41346306	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1103A>T; p.D368V; 23:41345257-41345257	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1675C>T; p.L559F; 23:41346918-41346918	skin	malignant_melanoma	Substitution - Missense
c.882A>G; p.R294R; 23:41344256-41344256	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.882A>G; p.R294R; 23:41344256-41344256	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.882A>G; p.R294R; 23:41344256-41344256	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.882A>G; p.R294R; 23:41344256-41344256	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.616G>C; p.V206L; 23:41343288-41343288	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.911C>T; p.A304V; 23:41344285-41344285	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1339T>C; p.F447L; 23:41346252-41346252	skin	malignant_melanoma	Substitution - Missense
c.1965G>T; p.Q655H; 23:41347695-41347695	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.762G>A; p.M254I; 23:41343819-41343819	urinary_tract; bladder	carcinoma	Substitution - Missense
c.736G>A; p.G246S; 23:41343793-41343793	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1642A>G; p.R548G; 23:41346885-41346885	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1987T>G; p.*663G; 23:41347717-41347717	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Nonstop extension
c.312C>G; p.Y104*; 23:41342522-41342522	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.312C>G; p.Y104*; 23:41342522-41342522	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1074G>A; p.E358E; 23:41345228-41345228	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.479T>C; p.F160S; 23:41342772-41342772	central_nervous_system; brain	glioma	Substitution - Missense
c.1345G>T; p.E449*; 23:41346258-41346258	breast	carcinoma	Substitution - Nonsense
c.1345G>T; p.E449*; 23:41346258-41346258	breast	carcinoma	Substitution - Nonsense
c.296G>A; p.R99H; 23:41342506-41342506	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1832C>A; p.S611Y; 23:41347374-41347374	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1579C>T; p.H527Y; 23:41346586-41346586	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1579C>T; p.H527Y; 23:41346586-41346586	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1427C>T; p.S476F; 23:41346340-41346340	thyroid	carcinoma; papillary_carcinoma	Substitution - Missense
c.1251G>A; p.Q417Q; 23:41345484-41345484	breast	carcinoma	Substitution - coding silent
c.1026-1G>C; p.?; 23:41345179-41345179	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Unknown
c.1424G>A; p.R475H; 23:41346337-41346337	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Burkitt_lymphoma	Substitution - Missense
c.1310C>A; p.A437E; 23:41345543-41345543	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1070T>C; p.F357S; 23:41345224-41345224	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1070T>C; p.F357S; 23:41345224-41345224	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.444-1G>T; p.?; 23:41342736-41342736	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.312C>T; p.Y104Y; 23:41342522-41342522	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1582C>T; p.R528C; 23:41346589-41346589	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1582C>T; p.R528C; 23:41346589-41346589	NS	malignant_melanoma	Substitution - Missense
c.1582C>T; p.R528C; 23:41346589-41346589	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1111C>T; p.P371S; 23:41345265-41345265	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1150A>C; p.T384P; 23:41345304-41345304	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1601G>A; p.R534H; 23:41346608-41346608	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.664G>C; p.A222P; 23:41343336-41343336	central_nervous_system; brainstem	primitive_neuroectodermal_tumour-medulloblastoma; WNT_subtype	Substitution - Missense
c.287_294delTTGATGAT; p.F96fs*5; 23:41342497-41342504	prostate	carcinoma	Deletion - Frameshift
c.744C>T; p.G248G; 23:41343801-41343801	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.203C>T; p.A68V; 23:41341535-41341535	breast	carcinoma	Substitution - Missense
c.744C>T; p.G248G; 23:41343801-41343801	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.745G>A; p.E249K; 23:41343802-41343802	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.595C>T; p.R199C; 23:41343267-41343267	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.104-8T>A; p.?; 23:41339028-41339028	ovary	other; neoplasm	Unknown
c.425C>T; p.P142L; 23:41342635-41342635	breast	carcinoma	Substitution - Missense
c.1197A>C; p.E399D; 23:41345430-41345430	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.362G>A; p.R121H; 23:41342572-41342572	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1195G>T; p.E399*; 23:41345428-41345428	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.843G>T; p.Q281H; 23:41344107-41344107	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1109T>G; p.M370R; 23:41345263-41345263	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma	Substitution - Missense
c.1109T>G; p.M370R; 23:41345263-41345263	central_nervous_system; brainstem	primitive_neuroectodermal_tumour-medulloblastoma; WNT_subtype	Substitution - Missense
c.1230delT; p.T411fs*9; 23:41345463-41345463	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Deletion - Frameshift
c.887_888insT; p.P297fs*52; 23:41344261-41344262	skin; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.710C>T; p.P237L; 23:41343767-41343767	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.599A>C; p.Y200S; 23:41343271-41343271	skin	malignant_melanoma	Substitution - Missense
c.1711T>A; p.L571I; 23:41346954-41346954	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.81G>C; p.Q27H; 23:41337443-41337443	breast	carcinoma	Substitution - Missense
c.1651A>C; p.N551H; 23:41346894-41346894	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1059G>T; p.L353F; 23:41345213-41345213	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1620G>T; p.L540L; 23:41346863-41346863	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.1620G>T; p.L540L; 23:41346863-41346863	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1589G>C; p.G530A; 23:41346596-41346596	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1589G>C; p.G530A; 23:41346596-41346596	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1540A>G; p.I514V; 23:41346547-41346547	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1519A>G; p.I507V; 23:41346526-41346526	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1469G>A; p.G490E; 23:41346382-41346382	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.974G>A; p.G325E; 23:41344348-41344348	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma	Substitution - Missense
c.974G>A; p.G325E; 23:41344348-41344348	central_nervous_system; brainstem	primitive_neuroectodermal_tumour-medulloblastoma; WNT_subtype	Substitution - Missense
c.1643G>T; p.R548M; 23:41346886-41346886	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1643G>T; p.R548M; 23:41346886-41346886	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1643G>T; p.R548M; 23:41346886-41346886	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1964A>G; p.Q655R; 23:41347694-41347694	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1643G>T; p.R548M; 23:41346886-41346886	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1504G>A; p.A502T; 23:41346511-41346511	skin	malignant_melanoma	Substitution - Missense
c.1504G>A; p.A502T; 23:41346511-41346511	skin	malignant_melanoma	Substitution - Missense
c.1061A>G; p.D354G; 23:41345215-41345215	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1061A>G; p.D354G; 23:41345215-41345215	pancreas	carcinoma	Substitution - Missense
c.1061A>G; p.D354G; 23:41345215-41345215	pancreas	carcinoma	Substitution - Missense
c.914_915delAT; p.I306fs*42; 23:41344288-41344289	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.986A>T; p.D329V; 23:41344360-41344360	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.986A>T; p.D329V; 23:41344360-41344360	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1126C>T; p.R376C; 23:41345280-41345280	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1051C>T; p.R351W; 23:41345205-41345205	central_nervous_system; brain	glioma	Substitution - Missense
c.931C>T; p.R311*; 23:41344305-41344305	skin	malignant_melanoma	Substitution - Nonsense
c.1675C>A; p.L559I; 23:41346918-41346918	breast	carcinoma	Substitution - Missense
c.1515G>A; p.L505L; 23:41346522-41346522	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.906T>C; p.G302G; 23:41344280-41344280	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1638C>T; p.N546N; 23:41346881-41346881	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1638C>T; p.N546N; 23:41346881-41346881	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1606G>A; p.G536R; 23:41346613-41346613	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.843G>C; p.Q281H; 23:41344107-41344107	prostate	carcinoma	Substitution - Missense
c.1252A>T; p.K418*; 23:41345485-41345485	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.616G>T; p.V206L; 23:41343288-41343288	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.973G>A; p.G325R; 23:41344347-41344347	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.1270G>T; p.E424*; 23:41345503-41345503	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1270G>T; p.E424*; 23:41345503-41345503	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.947G>T; p.G316V; 23:41344321-41344321	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.1423C>T; p.R475C; 23:41346336-41346336	skin	malignant_melanoma	Substitution - Missense
c.1423C>T; p.R475C; 23:41346336-41346336	ovary	other; neoplasm	Substitution - Missense
c.1423C>T; p.R475C; 23:41346336-41346336	ovary	other; neoplasm	Substitution - Missense
c.1423C>T; p.R475C; 23:41346336-41346336	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1316-2A>T; p.?; 23:41346227-41346227	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.1423C>T; p.R475C; 23:41346336-41346336	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1060G>T; p.D354Y; 23:41345214-41345214	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1060G>T; p.D354Y; 23:41345214-41345214	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.458G>A; p.G153E; 23:41342751-41342751	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.641T>G; p.I214S; 23:41343313-41343313	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; large_cell	Substitution - Missense
c.641T>G; p.I214S; 23:41343313-41343313	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; large_cell	Substitution - Missense
c.50C>G; p.A17G; 23:41337412-41337412	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.361C>T; p.R121C; 23:41342571-41342571	pancreas	carcinoma	Substitution - Missense
c.1229C>T; p.S410F; 23:41345462-41345462	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1229C>T; p.S410F; 23:41345462-41345462	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.483G>A; p.E161E; 23:41342776-41342776	breast	carcinoma	Substitution - coding silent
c.1574A>G; p.Y525C; 23:41346581-41346581	liver	carcinoma	Substitution - Missense
c.1574A>G; p.Y525C; 23:41346581-41346581	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1574A>G; p.Y525C; 23:41346581-41346581	liver	carcinoma	Substitution - Missense
c.1140G>A; p.M380I; 23:41345294-41345294	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.461G>A; p.G154D; 23:41342754-41342754	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.892_893insT; p.C298fs*51; 23:41344266-41344267	skin; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.878C>A; p.S293Y; 23:41344252-41344252	breast	carcinoma	Substitution - Missense
c.1665T>G; p.D555E; 23:41346908-41346908	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.73G>A; p.D25N; 23:41337435-41337435	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.779A>G; p.Y260C; 23:41344043-41344043	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1807_1817del11; p.Q604fs*23; 23:41347349-41347359	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1492A>G; p.T498A; 23:41346405-41346405	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1283G>A; p.R428Q; 23:41345516-41345516	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.240G>A; p.G80G; 23:41341572-41341572	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1622C>T; p.A541V; 23:41346865-41346865	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.71C>A; p.S24*; 23:41337433-41337433	skin	malignant_melanoma	Substitution - Nonsense
c.71C>A; p.S24*; 23:41337433-41337433	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Nonsense
c.71C>A; p.S24*; 23:41337433-41337433	liver	carcinoma	Substitution - Nonsense
c.328C>T; p.R110C; 23:41342538-41342538	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1069T>C; p.F357L; 23:41345223-41345223	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.328C>T; p.R110C; 23:41342538-41342538	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1972G>T; p.D658Y; 23:41347702-41347702	skin	malignant_melanoma	Substitution - Missense
c.925C>T; p.Q309*; 23:41344299-41344299	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1126C>A; p.R376S; 23:41345280-41345280	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1126C>A; p.R376S; 23:41345280-41345280	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.700T>C; p.F234L; 23:41343757-41343757	central_nervous_system; medulla	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.913G>A; p.D305N; 23:41344287-41344287	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.827G>A; p.R276K; 23:41344091-41344091	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1585A>C; p.I529L; 23:41346592-41346592	skin	malignant_melanoma	Substitution - Missense
c.1363G>T; p.D455Y; 23:41346276-41346276	breast	carcinoma	Substitution - Missense
c.1363G>T; p.D455Y; 23:41346276-41346276	breast	carcinoma	Substitution - Missense
c.976C>T; p.R326C; 23:41344350-41344350	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.976C>T; p.R326C; 23:41344350-41344350	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.976C>T; p.R326C; 23:41344350-41344350	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.976C>T; p.R326C; 23:41344350-41344350	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1140G>T; p.M380I; 23:41345294-41345294	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.323G>A; p.G108D; 23:41342533-41342533	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.109C>T; p.R37C; 23:41339041-41339041	large_intestine	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]