Entrez Gene

Basic Information
Gene ID	4862
Name	NPAS2
Synonymous	neuronal PAS domain protein 2;NPAS2;neuronal PAS domain protein 2
Definition	PAS domain-containing protein 4\|basic-helix-loop-helix-PAS protein MOP4\|class E basic helix-loop-helix protein 9\|member of PAS protein 4\|member of PAS superfamily 4\|neuronal PAS domain-containing protein 2\|neuronal PAS2
Position	2q11.2
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 0.05.

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.907+1G>A; p.?; 2:100965767-100965767	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1898C>T; p.P633L; 2:100990326-100990326	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.709T>G; p.F237V; 2:100964168-100964168	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1929A>G; p.P643P; 2:100990357-100990357	liver	carcinoma	Substitution - coding silent
c.1204C>T; p.L402F; 2:100974866-100974866	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.469C>T; p.P157S; 2:100948340-100948340	liver	carcinoma	Substitution - Missense
c.835G>T; p.V279L; 2:100965694-100965694	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2044C>T; p.P682S; 2:100990805-100990805	liver	carcinoma	Substitution - Missense
c.407A>G; p.Q136R; 2:100948278-100948278	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.407A>G; p.Q136R; 2:100948278-100948278	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.407A>G; p.Q136R; 2:100948278-100948278	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.407A>G; p.Q136R; 2:100948278-100948278	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1922T>C; p.L641P; 2:100990350-100990350	thyroid	other; neoplasm	Substitution - Missense
c.2117C>T; p.A706V; 2:100993352-100993352	skin	malignant_melanoma	Substitution - Missense
c.1476G>C; p.M492I; 2:100977793-100977793	breast	carcinoma	Substitution - Missense
c.1742C>T; p.A581V; 2:100988191-100988191	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1869C>T; p.S623S; 2:100990297-100990297	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.476A>G; p.Y159C; 2:100948347-100948347	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2097G>T; p.T699T; 2:100990858-100990858	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1757C>T; p.P586L; 2:100988206-100988206	skin	malignant_melanoma	Substitution - Missense
c.493G>A; p.D165N; 2:100949375-100949375	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.355C>T; p.H119Y; 2:100937834-100937834	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1460G>A; p.S487N; 2:100977777-100977777	breast	carcinoma	Substitution - Missense
c.2465C>T; p.P822L; 2:100995572-100995572	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.1192G>A; p.G398S; 2:100974854-100974854	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2097G>A; p.T699T; 2:100990858-100990858	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.660A>G; p.L220L; 2:100964119-100964119	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1140+2T>C; p.?; 2:100971076-100971076	stomach	carcinoma; adenocarcinoma	Unknown
c.824T>A; p.L275Q; 2:100965683-100965683	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.64C>T; p.R22W; 2:100925177-100925177	breast	carcinoma	Substitution - Missense
c.2423G>A; p.R808Q; 2:100995530-100995530	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1434G>T; p.Q478H; 2:100977751-100977751	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.678C>A; p.F226L; 2:100964137-100964137	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.455C>T; p.T152M; 2:100948326-100948326	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.705A>G; p.P235P; 2:100964164-100964164	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1374C>T; p.S458S; 2:100975549-100975549	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2324A>C; p.Q775P; 2:100995431-100995431	skin	malignant_melanoma	Substitution - Missense
c.1738G>C; p.G580R; 2:100988187-100988187	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.625G>A; p.D209N; 2:100964084-100964084	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1926G>A; p.P642P; 2:100990354-100990354	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2430C>T; p.V810V; 2:100995537-100995537	skin	malignant_melanoma	Substitution - coding silent
c.3G>C; p.M1I; 2:100904757-100904757	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2008C>T; p.R670W; 2:100990436-100990436	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1055+5C>T; p.?; 2:100968433-100968433	stomach	carcinoma; adenocarcinoma	Unknown
c.692G>A; p.R231H; 2:100964151-100964151	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1055+5C>T; p.?; 2:100968433-100968433	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.1412C>T; p.S471L; 2:100977729-100977729	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1412C>T; p.S471L; 2:100977729-100977729	thyroid	other; neoplasm	Substitution - Missense
c.1666A>T; p.S556C; 2:100988115-100988115	prostate	adenoma	Substitution - Missense
c.294C>T; p.I98I; 2:100937773-100937773	NS	malignant_melanoma	Substitution - coding silent
c.294C>T; p.I98I; 2:100937773-100937773	NS	malignant_melanoma	Substitution - coding silent
c.1541G>A; p.R514Q; 2:100982289-100982289	skin	malignant_melanoma	Substitution - Missense
c.1180A>G; p.T394A; 2:100974842-100974842	thyroid	other; neoplasm	Substitution - Missense
c.2471G>A; p.R824Q; 2:100995578-100995578	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.432C>T; p.I144I; 2:100948303-100948303	skin	malignant_melanoma	Substitution - coding silent
c.1229C>T; p.A410V; 2:100974891-100974891	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1366G>T; p.G456W; 2:100975541-100975541	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.250G>T; p.E84*; 2:100932978-100932978	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2405A>T; p.Q802L; 2:100995512-100995512	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1166G>A; p.R389Q; 2:100974828-100974828	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.250G>T; p.E84*; 2:100932978-100932978	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.678C>T; p.F226F; 2:100964137-100964137	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.250G>T; p.E84*; 2:100932978-100932978	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2076G>A; p.Q692Q; 2:100990837-100990837	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1719A>T; p.A573A; 2:100988168-100988168	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2056G>A; p.G686R; 2:100990817-100990817	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.440C>T; p.S147F; 2:100948311-100948311	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1365C>T; p.P455P; 2:100975540-100975540	thyroid	carcinoma	Substitution - coding silent
c.1016_1017CC>TT; p.S339F; 2:100968389-100968390	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2130C>T; p.T710T; 2:100993365-100993365	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2130C>T; p.T710T; 2:100993365-100993365	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1855C>T; p.L619L; 2:100990283-100990283	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.801-1G>C; p.?; 2:100965659-100965659	upper_aerodigestive_tract; mouth	carcinoma	Unknown
c.801-1G>C; p.?; 2:100965659-100965659	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Unknown
c.724T>G; p.C242G; 2:100964867-100964867	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1060G>T; p.A354S; 2:100970994-100970994	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.179A>G; p.N60S; 2:100925292-100925292	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1487C>T; p.S496L; 2:100982235-100982235	breast	carcinoma	Substitution - Missense
c.1107G>A; p.P369P; 2:100971041-100971041	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1487C>T; p.S496L; 2:100982235-100982235	skin	malignant_melanoma	Substitution - Missense
c.179A>G; p.N60S; 2:100925292-100925292	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1612C>T; p.Q538*; 2:100982360-100982360	skin	malignant_melanoma	Substitution - Nonsense
c.1187A>T; p.D396V; 2:100974849-100974849	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1200G>A; p.S400S; 2:100974862-100974862	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.295G>A; p.A99T; 2:100937774-100937774	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.786A>C; p.L262F; 2:100964929-100964929	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2185G>A; p.V729I; 2:100993420-100993420	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1163C>T; p.P388L; 2:100974825-100974825	skin	malignant_melanoma	Substitution - Missense
c.1220C>T; p.S407L; 2:100974882-100974882	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2172C>T; p.S724S; 2:100993407-100993407	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1056-1G>A; p.?; 2:100970989-100970989	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1220C>T; p.S407L; 2:100974882-100974882	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1738G>A; p.G580R; 2:100988187-100988187	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2386C>T; p.P796S; 2:100995493-100995493	skin	malignant_melanoma	Substitution - Missense
c.1071G>A; p.R357R; 2:100971005-100971005	skin	malignant_melanoma	Substitution - coding silent
c.2082_2083GG>AA; p.E695K; 2:100990843-100990844	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.504T>G; p.F168L; 2:100949386-100949386	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.846C>T; p.T282T; 2:100965705-100965705	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1527A>G; p.L509L; 2:100982275-100982275	thyroid	carcinoma	Substitution - coding silent
c.1306G>A; p.E436K; 2:100975481-100975481	oesophagus	carcinoma	Substitution - Missense
c.1832C>T; p.P611L; 2:100990260-100990260	skin	malignant_melanoma	Substitution - Missense
c.1306G>A; p.E436K; 2:100975481-100975481	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1123C>T; p.H375Y; 2:100971057-100971057	skin	malignant_melanoma	Substitution - Missense
c.1123C>T; p.H375Y; 2:100971057-100971057	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1797G>A; p.L599L; 2:100988246-100988246	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1874G>A; p.R625H; 2:100990302-100990302	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.736G>A; p.E246K; 2:100964879-100964879	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.736G>A; p.E246K; 2:100964879-100964879	breast	carcinoma	Substitution - Missense
c.1936A>C; p.N646H; 2:100990364-100990364	liver	carcinoma	Substitution - Missense
c.1046C>T; p.S349L; 2:100968419-100968419	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.654G>A; p.V218V; 2:100964113-100964113	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.538A>C; p.K180Q; 2:100949420-100949420	skin	malignant_melanoma	Substitution - Missense
c.396C>T; p.F132F; 2:100948267-100948267	thyroid	carcinoma	Substitution - coding silent
c.1200G>T; p.S400S; 2:100974862-100974862	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1275A>T; p.E425D; 2:100974937-100974937	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1226C>T; p.S409L; 2:100974888-100974888	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1226C>T; p.S409L; 2:100974888-100974888	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2156C>A; p.P719H; 2:100993391-100993391	large_intestine; colon	carcinoma	Substitution - Missense
c.1916C>A; p.A639D; 2:100990344-100990344	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2156C>A; p.P719H; 2:100993391-100993391	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.267G>A; p.M89I; 2:100932995-100932995	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1189G>A; p.V397M; 2:100974851-100974851	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.659T>A; p.L220Q; 2:100964118-100964118	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1088A>C; p.E363A; 2:100971022-100971022	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2470C>T; p.R824*; 2:100995577-100995577	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1737C>A; p.L579L; 2:100988186-100988186	pancreas	carcinoma	Substitution - coding silent
c.1262C>T; p.T421I; 2:100974924-100974924	stomach	adenocarcinoma	Substitution - Missense
c.1029C>T; p.F343F; 2:100968402-100968402	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2111+10C>T; p.?; 2:100990882-100990882	kidney	other; neoplasm	Unknown
c.1797G>T; p.L599L; 2:100988246-100988246	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1841T>C; p.M614T; 2:100990269-100990269	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2453G>T; p.G818V; 2:100995560-100995560	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1891G>A; p.V631M; 2:100990319-100990319	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2112G>T; p.K704N; 2:100993347-100993347	liver	carcinoma	Substitution - Missense
c.2215C>T; p.P739S; 2:100993450-100993450	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2112G>T; p.K704N; 2:100993347-100993347	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.365C>T; p.S122L; 2:100948236-100948236	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2195T>C; p.M732T; 2:100993430-100993430	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1468G>A; p.A490T; 2:100977785-100977785	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2185G>T; p.V729F; 2:100993420-100993420	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2067C>T; p.D689D; 2:100990828-100990828	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.2333C>T; p.S778L; 2:100995440-100995440	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.344C>T; p.P115L; 2:100937823-100937823	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2341C>T; p.L781F; 2:100995448-100995448	skin	malignant_melanoma	Substitution - Missense
c.648C>T; p.C216C; 2:100964107-100964107	skin	malignant_melanoma	Substitution - coding silent
c.691C>T; p.R231C; 2:100964150-100964150	skin	malignant_melanoma	Substitution - Missense
c.1245C>T; p.S415S; 2:100974907-100974907	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.526A>G; p.S176G; 2:100949408-100949408	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2146G>A; p.D716N; 2:100993381-100993381	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2421C>T; p.P807P; 2:100995528-100995528	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1033G>A; p.V345M; 2:100968406-100968406	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.679A>G; p.I227V; 2:100964138-100964138	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2264G>T; p.R755L; 2:100993499-100993499	liver	carcinoma	Substitution - Missense
c.1545C>T; p.I515I; 2:100982293-100982293	skin	malignant_melanoma	Substitution - coding silent
c.339C>T; p.I113I; 2:100937818-100937818	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1692_1760del69; p.Q566_Q588del23; 2:100988141-100988209	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - In frame
c.2183C>T; p.P728L; 2:100993418-100993418	skin	malignant_melanoma	Substitution - Missense
c.462C>T; p.S154S; 2:100948333-100948333	skin	malignant_melanoma	Substitution - coding silent

Mutation summary in protein domains

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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]