| General information | Literature | Expression | Regulation | Variant | Interaction |
|
Basic Information |
|
|---|---|
Gene ID | 23411 |
Name | SIRT1 |
Synonymous | sirtuin 1;SIRT1;sirtuin 1 |
Definition | NAD-dependent deacetylase sirtuin-1|NAD-dependent protein deacetylase sirtuin-1|SIR2-like protein 1|SIR2alpha|regulatory protein SIR2 homolog 1|sir2-like 1|sirtuin type 1 |
Position | 10q21.3 |
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 | Top |
 |
The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers | Top |
 |
 |
Loss of Function mutations compare to missense mutations | Top |
 |
| The ratio of the loss-of-function mutations over missense mutations is 0.16. |
The copy number variations for various cancers | Top |
 |
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 |
COSMIC somatic mutation [Top] | |||
|
Mutation (CDS; AA; Chr) |
Site |
Histology |
Mutation Type |
|---|---|---|---|
c.1852G>A; p.G618R; 10:67912968-67912968 |
breast | carcinoma | Substitution - Missense |
c.760delA; p.I256fs*2; 10:67889094-67889094 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.760delA; p.I256fs*2; 10:67889094-67889094 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.596G>A; p.R199Q; 10:67888930-67888930 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1646C>G; p.S549C; 10:67912762-67912762 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2135C>A; p.A712D; 10:67916484-67916484 |
kidney | other; neoplasm | Substitution - Missense |
c.341C>A; p.P114Q; 10:67885062-67885062 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1021C>T; p.R341C; 10:67906868-67906868 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1021C>T; p.R341C; 10:67906868-67906868 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1282T>C; p.Y428H; 10:67909367-67909367 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1945C>T; p.R649C; 10:67916294-67916294 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1945C>T; p.R649C; 10:67916294-67916294 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.1891G>A; p.E631K; 10:67913007-67913007 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1906C>T; p.R636W; 10:67913022-67913022 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1220T>C; p.M407T; 10:67909305-67909305 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1220T>C; p.M407T; 10:67909305-67909305 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.942G>A; p.K314K; 10:67891554-67891554 |
skin | malignant_melanoma | Substitution - coding silent |
c.845G>A; p.R282H; 10:67891457-67891457 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.845G>A; p.R282H; 10:67891457-67891457 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1828delA; p.N611fs*10; 10:67912944-67912944 |
stomach | adenocarcinoma | Deletion - Frameshift |
c.963C>T; p.F321F; 10:67906810-67906810 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1147G>A; p.V383I; 10:67908102-67908102 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2188G>T; p.A730S; 10:67916537-67916537 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.306C>T; p.D102D; 10:67885027-67885027 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.892G>C; p.D298H; 10:67891504-67891504 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1546C>T; p.R516*; 10:67912662-67912662 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.770T>G; p.I257R; 10:67889104-67889104 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1558G>T; p.E520*; 10:67912674-67912674 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1558G>T; p.E520*; 10:67912674-67912674 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1558G>T; p.E520*; 10:67912674-67912674 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1399G>T; p.E467*; 10:67912515-67912515 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.504C>A; p.A168A; 10:67887490-67887490 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1095C>A; p.S365S; 10:67908050-67908050 |
pancreas | carcinoma | Substitution - coding silent |
c.1105G>A; p.A369T; 10:67908060-67908060 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.682C>A; p.L228I; 10:67889016-67889016 |
pancreas | carcinoma | Substitution - Missense |
c.2227C>T; p.P743S; 10:67916576-67916576 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1423G>T; p.D475Y; 10:67912539-67912539 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1289A>C; p.K430T; 10:67909374-67909374 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2018G>A; p.S673N; 10:67916367-67916367 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2043G>C; p.Q681H; 10:67916392-67916392 |
breast | carcinoma | Substitution - Missense |
c.877C>T; p.P293S; 10:67891489-67891489 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1628G>T; p.R543I; 10:67912744-67912744 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1441G>A; p.D481N; 10:67912557-67912557 |
breast | carcinoma | Substitution - Missense |
c.408G>A; p.A136A; 10:67885129-67885129 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.547+1G>A; p.?; 10:67887534-67887534 |
lung | carcinoma; adenocarcinoma | Unknown |
c.2094C>T; p.F698F; 10:67916443-67916443 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1209G>A; p.P403P; 10:67909294-67909294 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.444C>T; p.F148F; 10:67887430-67887430 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1208C>T; p.P403L; 10:67909293-67909293 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1208C>G; p.P403R; 10:67909293-67909293 |
ovary | other; neoplasm | Substitution - Missense |
c.1646C>T; p.S549F; 10:67912762-67912762 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.943G>T; p.E315*; 10:67906790-67906790 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.477C>T; p.S159S; 10:67887463-67887463 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1242T>C; p.F414F; 10:67909327-67909327 |
skin | malignant_melanoma | Substitution - coding silent |
c.2059G>A; p.E687K; 10:67916408-67916408 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2059G>A; p.E687K; 10:67916408-67916408 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2199G>A; p.V733V; 10:67916548-67916548 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1752T>G; p.T584T; 10:67912868-67912868 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1236_1237insT; p.G415fs*2; 10:67909321-67909322 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1236_1237insT; p.G415fs*2; 10:67909321-67909322 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1339C>T; p.P447S; 10:67909424-67909424 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1547G>A; p.R516Q; 10:67912663-67912663 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1547G>A; p.R516Q; 10:67912663-67912663 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1411C>T; p.H471Y; 10:67912527-67912527 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1015C>T; p.L339L; 10:67906862-67906862 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.214G>T; p.A72S; 10:67884935-67884935 |
thyroid | other; neoplasm | Substitution - Missense |
c.844C>A; p.R282S; 10:67891456-67891456 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.476C>T; p.S159F; 10:67887462-67887462 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1319G>A; p.G440E; 10:67909404-67909404 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.476C>T; p.S159F; 10:67887462-67887462 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2005A>G; p.S669G; 10:67916354-67916354 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1150C>T; p.R384*; 10:67908105-67908105 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.874G>T; p.D292Y; 10:67891486-67891486 |
kidney | other; neoplasm | Substitution - Missense |
c.1850C>T; p.A617V; 10:67912966-67912966 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.620C>T; p.P207L; 10:67888954-67888954 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.987C>T; p.F329F; 10:67906834-67906834 |
skin | malignant_melanoma | Substitution - coding silent |
c.686C>T; p.S229L; 10:67889020-67889020 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.876T>A; p.D292E; 10:67891488-67891488 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2024G>A; p.S675N; 10:67916373-67916373 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1278G>T; p.M426I; 10:67909363-67909363 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1447G>T; p.D483Y; 10:67912563-67912563 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.994T>C; p.L332L; 10:67906841-67906841 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1260A>G; p.E420E; 10:67909345-67909345 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |