| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 9722 |
Name | NOS1AP |
Synonymous | nitric oxide synthase 1 (neuronal) adaptor protein;NOS1AP;nitric oxide synthase 1 (neuronal) adaptor protein |
Definition | C-terminal PDZ domain ligand of neuronal nitric oxide synthase (CAPON)|C-terminal PDZ ligand of neuronal nitric oxide synthase protein|carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein|ligand of neuronal nitric oxide synthase with car |
Position | 1q23.3 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1304C>T; p.P435L; 1:162367250-162367250 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.433G>A; p.V145I; 1:162333105-162333105 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.767C>T; p.S256L; 1:162356964-162356964 |
skin | malignant_melanoma | Substitution - Missense |
c.1410G>A; p.T470T; 1:162367356-162367356 |
skin | malignant_melanoma | Substitution - coding silent |
c.595+1G>C; p.?; 1:162343977-162343977 |
lung | carcinoma; adenocarcinoma | Unknown |
c.1386C>T; p.I462I; 1:162367332-162367332 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1335C>T; p.G445G; 1:162367281-162367281 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1516G>A; p.V506M; 1:162367462-162367462 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.380A>G; p.K127R; 1:162333052-162333052 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.425G>C; p.R142T; 1:162333097-162333097 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.736G>A; p.E246K; 1:162355327-162355327 |
skin | malignant_melanoma | Substitution - Missense |
c.1362C>T; p.L454L; 1:162367308-162367308 |
skin | malignant_melanoma | Substitution - coding silent |
c.557G>A; p.G186E; 1:162343938-162343938 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.736G>A; p.E246K; 1:162355327-162355327 |
skin | malignant_melanoma | Substitution - Missense |
c.341A>G; p.Y114C; 1:162300703-162300703 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.450G>C; p.K150N; 1:162333122-162333122 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.797C>T; p.S266L; 1:162356994-162356994 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.415A>C; p.N139H; 1:162333087-162333087 |
skin | malignant_melanoma | Substitution - Missense |
c.844G>A; p.G282S; 1:162357041-162357041 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.511C>T; p.L171L; 1:162343892-162343892 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.73G>A; p.A25T; 1:162070250-162070250 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1195C>A; p.L399M; 1:162367141-162367141 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.808C>T; p.L270L; 1:162357005-162357005 |
oesophagus | carcinoma | Substitution - coding silent |
c.685G>A; p.D229N; 1:162355276-162355276 |
skin | malignant_melanoma | Substitution - Missense |
c.774C>T; p.P258P; 1:162356971-162356971 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.901_903delCAG; p.Q306delQ; 1:162357098-162357100 |
skin | malignant_melanoma | Deletion - In frame |
c.901_903delCAG; p.Q306delQ; 1:162357098-162357100 |
NS | malignant_melanoma | Deletion - In frame |
c.901_903delCAG; p.Q306delQ; 1:162357098-162357100 |
skin | malignant_melanoma | Deletion - In frame |
c.1405A>G; p.N469D; 1:162367351-162367351 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1350C>T; p.G450G; 1:162367296-162367296 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.1350C>T; p.G450G; 1:162367296-162367296 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1002C>T; p.R334R; 1:162365466-162365466 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1002C>T; p.R334R; 1:162365466-162365466 |
thyroid | other; neoplasm | Substitution - coding silent |
c.558A>G; p.G186G; 1:162343939-162343939 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1191G>T; p.E397D; 1:162367137-162367137 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1336G>C; p.E446Q; 1:162367282-162367282 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.527C>T; p.T176M; 1:162343908-162343908 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.596G>T; p.G199V; 1:162355187-162355187 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.230C>A; p.S77*; 1:162287396-162287396 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.732G>A; p.G244G; 1:162355323-162355323 |
skin | malignant_melanoma | Substitution - coding silent |
c.596-1G>A; p.?; 1:162355186-162355186 |
skin | malignant_melanoma | Unknown |
c.1340C>T; p.A447V; 1:162367286-162367286 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.980C>G; p.A327G; 1:162365444-162365444 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.694G>A; p.E232K; 1:162355285-162355285 |
skin | malignant_melanoma | Substitution - Missense |
c.397G>T; p.A133S; 1:162333069-162333069 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.715G>A; p.D239N; 1:162355306-162355306 |
skin | malignant_melanoma | Substitution - Missense |
c.469A>G; p.I157V; 1:162343850-162343850 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1059C>T; p.V353V; 1:162365523-162365523 |
skin | malignant_melanoma | Substitution - coding silent |
c.1121G>A; p.S374N; 1:162367067-162367067 |
skin | malignant_melanoma | Substitution - Missense |
c.1446G>T; p.E482D; 1:162367392-162367392 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.156G>A; p.V52V; 1:162154455-162154455 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - coding silent |
c.1204C>T; p.P402S; 1:162367150-162367150 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.823T>C; p.S275P; 1:162357020-162357020 |
oesophagus | carcinoma | Substitution - Missense |
c.1044C>T; p.H348H; 1:162365508-162365508 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1272C>T; p.C424C; 1:162367218-162367218 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.486G>A; p.G162G; 1:162343867-162343867 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.344G>A; p.R115K; 1:162300706-162300706 |
skin | malignant_melanoma | Substitution - Missense |
c.1483G>A; p.E495K; 1:162367429-162367429 |
skin | malignant_melanoma | Substitution - Missense |
c.1483G>A; p.E495K; 1:162367429-162367429 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.564C>T; p.S188S; 1:162343945-162343945 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1386C>A; p.I462I; 1:162367332-162367332 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.667G>A; p.V223I; 1:162355258-162355258 |
pancreas | carcinoma | Substitution - Missense |
c.811C>T; p.L271F; 1:162357008-162357008 |
breast | carcinoma | Substitution - Missense |
c.1113C>A; p.S371S; 1:162367059-162367059 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.703C>T; p.R235*; 1:162355294-162355294 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1226C>T; p.A409V; 1:162367172-162367172 |
skin | malignant_melanoma | Substitution - Missense |
c.1038C>T; p.L346L; 1:162365502-162365502 |
breast | carcinoma | Substitution - coding silent |
c.1001G>A; p.R334H; 1:162365465-162365465 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.472G>T; p.V158F; 1:162343853-162343853 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.700A>G; p.S234G; 1:162355291-162355291 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.471C>T; p.I157I; 1:162343852-162343852 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.255_257delGAA; p.K90delK; 1:162287421-162287423 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - In frame |
c.794C>A; p.A265D; 1:162356991-162356991 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.611G>C; p.G204A; 1:162355202-162355202 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.893A>T; p.Q298L; 1:162357090-162357090 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1003G>A; p.V335M; 1:162365467-162365467 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.176G>A; p.R59Q; 1:162154475-162154475 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1258G>A; p.G420S; 1:162367204-162367204 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.292G>A; p.E98K; 1:162300654-162300654 |
skin | malignant_melanoma | Substitution - Missense |
c.378G>A; p.L126L; 1:162333050-162333050 |
breast | carcinoma | Substitution - coding silent |
c.1423G>A; p.E475K; 1:162367369-162367369 |
breast | carcinoma | Substitution - Missense |
c.750C>T; p.H250H; 1:162355341-162355341 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1101C>T; p.N367N; 1:162365565-162365565 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.157G>A; p.A53T; 1:162154456-162154456 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.157G>A; p.A53T; 1:162154456-162154456 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1012C>A; p.L338I; 1:162365476-162365476 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.157G>A; p.A53T; 1:162154456-162154456 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.157G>T; p.A53S; 1:162154456-162154456 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.981G>A; p.A327A; 1:162365445-162365445 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.475C>T; p.R159W; 1:162343856-162343856 |
skin | malignant_melanoma | Substitution - Missense |
c.475C>T; p.R159W; 1:162343856-162343856 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.756C>A; p.G252G; 1:162355347-162355347 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.666G>T; p.E222D; 1:162355257-162355257 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1202C>T; p.S401L; 1:162367148-162367148 |
skin | malignant_melanoma | Substitution - Missense |
c.828G>A; p.S276S; 1:162357025-162357025 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.646A>T; p.T216S; 1:162355237-162355237 |
skin | malignant_melanoma | Substitution - Missense |
c.940-8C>A; p.?; 1:162365396-162365396 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.167G>A; p.R56H; 1:162154466-162154466 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.167G>A; p.R56H; 1:162154466-162154466 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.243G>A; p.V81V; 1:162287409-162287409 |
breast | carcinoma | Substitution - coding silent |
c.109G>T; p.V37L; 1:162154408-162154408 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.99G>A; p.E33E; 1:162070276-162070276 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.477G>A; p.R159R; 1:162343858-162343858 |
skin | malignant_melanoma | Substitution - coding silent |
c.706G>T; p.G236C; 1:162355297-162355297 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.467G>A; p.R156K; 1:162343848-162343848 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.467G>A; p.R156K; 1:162343848-162343848 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1423G>T; p.E475*; 1:162367369-162367369 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.1129G>A; p.E377K; 1:162367075-162367075 |
skin | malignant_melanoma | Substitution - Missense |
c.735G>T; p.K245N; 1:162355326-162355326 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.441A>T; p.K147N; 1:162333113-162333113 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.735G>T; p.K245N; 1:162355326-162355326 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.153C>T; p.I51I; 1:162154452-162154452 |
skin | malignant_melanoma | Substitution - coding silent |
c.565G>A; p.E189K; 1:162343946-162343946 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.415A>T; p.N139Y; 1:162333087-162333087 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.718C>T; p.L240L; 1:162355309-162355309 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.826T>C; p.S276P; 1:162357023-162357023 |
breast | carcinoma | Substitution - Missense |
c.555_556TG>GC; p.D185_G186>ER; 1:162343936-162343937 |
lung | carcinoma; adenocarcinoma | Complex - compound substitution |
c.272T>G; p.L91R; 1:162300634-162300634 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1275G>C; p.L425F; 1:162367221-162367221 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.274C>A; p.L92I; 1:162300636-162300636 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1012C>T; p.L338F; 1:162365476-162365476 |
skin | malignant_melanoma | Substitution - Missense |
c.1306_1307CC>TT; p.P436F; 1:162367252-162367253 |
skin | malignant_melanoma | Substitution - Missense |
c.1428C>A; p.R476R; 1:162367374-162367374 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.96T>C; p.F32F; 1:162070273-162070273 |
NS | NS | Substitution - coding silent |
c.314A>T; p.K105M; 1:162300676-162300676 |
breast | carcinoma | Substitution - Missense |