| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 4846 |
Name | NOS3 |
Synonymous | ECNOS|eNOS;nitric oxide synthase 3 (endothelial cell);NOS3;nitric oxide synthase 3 (endothelial cell) |
Definition | EC-NOS|NOS type III|NOSIII|cNOS|constitutive NOS|endothelial NOS|nitric oxide synthase, endothelial |
Position | 7q36 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for NOS3 | ||
PCGP somatic mutation [Top] | ||
There is no record for NOS3 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.57G>A; p.L19L; |
NS | malignant_melanoma |
c.57G>A; p.L19L; |
NS | malignant_melanoma |
c.845G>A; p.G282E; |
NS | malignant_melanoma |
c.845G>A; p.G282E; |
NS | malignant_melanoma |
c.1690G>A; p.E564K; |
skin; upper_leg | malignant_melanoma |
c.695C>T; p.P232L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1420C>T; p.R474C; 7:150329438-150329438 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2624G>A; p.R875Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2345G>A; p.R782H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3526C>G; p.Q1176E; |
liver | carcinoma |
c.2011C>T; p.L671L; 7:150335196-150335196 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.641A>T; p.H214L; |
liver | carcinoma; hepatocellular_carcinoma |
c.641A>T; p.H214L; |
liver | carcinoma; hepatocellular_carcinoma |
c.3087G>C; p.L1029L; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.497G>T; p.R166M; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.1805G>A; p.R602Q; 7:150334500-150334500 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.858C>T; p.F286F; |
oesophagus | carcinoma; adenocarcinoma |
c.1943G>C; p.C648S; |
oesophagus | carcinoma; adenocarcinoma |
c.1276T>C; p.S426P; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.1398C>T; p.N466N; |
oesophagus | carcinoma; adenocarcinoma |
c.3163C>A; p.H1055N; |
lung | carcinoma; small_cell_carcinoma |
c.2375A>C; p.Q792P; |
liver | carcinoma |
c.404A>G; p.Y135C; |
lung | carcinoma; adenocarcinoma |
c.264G>A; p.A88A; |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma |
c.2802G>T; p.L934L; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.3047C>A; p.T1016N; |
liver | carcinoma |
c.1420C>T; p.R474C; 7:150329438-150329438 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2184G>A; p.R728R; |
skin; trunk | malignant_melanoma; nodular |
c.2476C>G; p.P826A; |
lung | carcinoma; adenocarcinoma |
c.3262G>T; p.V1088L; |
lung | carcinoma; adenocarcinoma |
c.2098C>T; p.Q700*; |
lung | carcinoma; adenocarcinoma |
c.1549C>G; p.R517G; |
lung | carcinoma; adenocarcinoma |
c.1679C>A; p.S560Y; |
lung | carcinoma; adenocarcinoma |
c.1156G>T; p.D386Y; |
lung | carcinoma; adenocarcinoma |
c.3128C>G; p.T1043S; |
lung | carcinoma; adenocarcinoma |
c.28G>T; p.E10*; |
lung | carcinoma; adenocarcinoma |
c.2224G>T; p.E742*; |
lung | carcinoma; adenocarcinoma |
c.3321G>T; p.E1107D; |
lung | carcinoma; adenocarcinoma |
c.1681C>T; p.L561F; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia |
c.845G>A; p.G282E; |
NS | malignant_melanoma |
c.131C>T; p.S44F; |
NS | malignant_melanoma |
c.1108C>T; p.P370S; |
NS | malignant_melanoma |
c.2386G>A; p.G796R; |
skin; trunk | malignant_melanoma |
c.1440G>A; p.W480*; |
skin; extremity | malignant_melanoma |
c.3504G>A; p.E1168E; |
prostate | carcinoma |
c.2282C>T; p.A761V; |
pancreas | carcinoma; ductal_carcinoma |
c.1968A>G; p.A656A; |
breast | carcinoma; ductal_carcinoma |
c.1429-1G>T; p.?; |
lung | carcinoma; small_cell_carcinoma |
c.2056G>T; p.D686Y; |
lung | carcinoma; small_cell_carcinoma |
c.520_521insG; p.A174fs*2; 7:150324884-150324885 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.768G>A; p.Q256Q; 7:150326653-150326653 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1033G>A; p.G345S; 7:150327287-150327287 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1315G>A; p.G439R; 7:150329333-150329333 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1700T>C; p.V567A; |
ovary | carcinoma; serous_carcinoma |
c.956+1G>T; p.?; |
lung | carcinoma; squamous_cell_carcinoma |
c.2910C>G; p.P970P; |
ovary | carcinoma; serous_carcinoma |
c.1317G>A; p.G439G; |
ovary | carcinoma; serous_carcinoma |
c.1494A>G; p.E498E; |
lung | carcinoma; squamous_cell_carcinoma |
c.1092G>A; p.T364T; |
lung | carcinoma; adenocarcinoma |
c.179C>A; p.T60N; |
ovary | carcinoma; serous_carcinoma |
c.1996G>T; p.A666S; |
lung | carcinoma; adenocarcinoma |
c.2686G>T; p.D896Y; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1225A>G; p.S409G; |
lung | carcinoma; squamous_cell_carcinoma |
c.1344C>A; p.I448I; |
lung | carcinoma; squamous_cell_carcinoma |
c.1972C>A; p.P658T; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.812C>G; p.T271S; |
lung | carcinoma; adenocarcinoma |
c.916C>A; p.P306T; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1321T>A; p.C441S; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2224G>C; p.E742Q; |
breast | carcinoma |
c.1330G>A; p.D444N; |
breast | carcinoma |
c.2521delC; p.G843fs*115; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3021G>A; p.L1007L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.767A>G; p.Q256R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2536C>T; p.R846W; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3193C>A; p.Q1065K; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3322C>T; p.R1108W; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3306C>T; p.R1102R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2269delA; p.K757fs*43; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1603G>A; p.A535T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1313delG; p.G440fs*64; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1479G>T; p.K493N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1627C>T; p.R543W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1919G>T; p.G640V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.164C>T; p.P55L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1518C>T; p.S506S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.445C>A; p.R149R; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1867G>A; p.V623M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.625A>G; p.T209A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1313delG; p.G440fs*64; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1524G>A; p.S508S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.3178G>A; p.E1060K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2623C>T; p.R875W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1087G>A; p.G363S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1559C>T; p.A520V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.45C>T; p.C15C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1984G>A; p.A662T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3346G>A; p.D1116N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.854G>A; p.R285H; |
urinary_tract; bladder | carcinoma |
c.1663G>A; p.E555K; |
urinary_tract; bladder | carcinoma |
c.877C>T; p.L293L; |
urinary_tract; bladder | carcinoma |
c.1412C>T; p.P471L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2675C>T; p.A892V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.419G>T; p.R140M; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1313delG; p.G440fs*64; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3379G>A; p.V1127M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1313delG; p.G440fs*64; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1313delG; p.G440fs*64; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1177C>T; p.L393L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1420C>A; p.R474S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1156G>T; p.D386Y; |
breast | carcinoma |
c.1422C>T; p.R474R; |
breast | carcinoma |
c.1300G>C; p.E434Q; |
urinary_tract; bladder | carcinoma |
c.501G>C; p.E167D; |
urinary_tract; bladder | carcinoma |
c.3318C>T; p.L1106L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1435C>A; p.P479T; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1421G>A; p.R474H; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1313delG; p.G440fs*64; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1941C>T; p.F647F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.748C>T; p.R250C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1421G>A; p.R474H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.901G>A; p.E301K; |
urinary_tract; bladder | carcinoma |
c.620T>A; p.M207K; |
prostate | carcinoma |
c.745G>C; p.V249L; |
prostate | carcinoma |
c.170C>A; p.S57Y; |
skin | malignant_melanoma |
c.1952G>A; p.G651E; |
skin | malignant_melanoma |
c.1039G>A; p.E347K; |
skin | malignant_melanoma |
c.1904A>C; p.N635T; |
skin | malignant_melanoma |
c.1750G>A; p.E584K; |
skin; upper_leg | malignant_melanoma |
c.2776C>T; p.P926S; |
skin; mucosal | malignant_melanoma |
c.3027C>A; p.C1009*; |
skin; face | carcinoma; squamous_cell_carcinoma |
c.1024G>A; p.E342K; |
skin; scalp | carcinoma; squamous_cell_carcinoma |