Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

23410

Name

SIRT3

Synonymous

sirtuin 3;SIRT3;sirtuin 3

Definition

NAD-dependent deacetylase sirtuin-3, mitochondrial|NAD-dependent protein deacetylase sirtuin-3, mitochondrial|SIR2-like protein 3|mitochondrial nicotinamide adenine dinucleotide-dependent deacetylase|regulatory protein SIR2 homolog 3|silent mating type in

Position

11p15.5

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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Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.09.

The copy number variations for various cancers

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The copy number variations in 17 major cancer groups: 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; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

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.6G>A; p.A2A; 11:236323-236323

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemiaSubstitution - coding silent

c.516T>G; p.D172E; 11:233173-233173

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.516T>G; p.D172E; 11:233173-233173

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.45G>T; p.W15C; 11:236284-236284

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.785C>T; p.P262L; 11:230474-230474

 breastcarcinomaSubstitution - Missense

c.1179G>A; p.K393K; 11:218832-218832

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1104C>T; p.H368H; 11:218907-218907

 oesophaguscarcinomaSubstitution - coding silent

c.1015C>T; p.P339S; 11:218996-218996

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.366G>T; p.K122N; 11:233450-233450

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.120T>A; p.L40L; 11:236209-236209

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.862A>G; p.K288E; 11:224185-224185

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.793G>T; p.G265W; 11:230466-230466

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.649C>A; p.H217N; 11:233040-233040

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.490C>A; p.L164M; 11:233199-233199

 breastcarcinomaSubstitution - Missense

c.504C>T; p.L168L; 11:233185-233185

 skinmalignant_melanomaSubstitution - coding silent

c.996G>T; p.E332D; 11:219015-219015

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.399G>T; p.R133R; 11:233417-233417

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.436delG; p.A146fs*127; 11:233380-233380

 large_intestine; rectumcarcinoma; adenocarcinomaDeletion - Frameshift

c.561C>A; p.H187Q; 11:233128-233128

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1168G>A; p.E390K; 11:218843-218843

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.529G>A; p.E177K; 11:233160-233160

 skinmalignant_melanomaSubstitution - Missense

c.986G>A; p.S329N; 11:219025-219025

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1167G>T; p.R389R; 11:218844-218844

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.7T>G; p.F3V; 11:236322-236322

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemiaSubstitution - Missense

c.540delT; p.F180fs*93; 11:233149-233149

 oesophaguscarcinoma; adenocarcinomaDeletion - Frameshift

c.874G>T; p.V292L; 11:224173-224173

 breastcarcinomaSubstitution - Missense

c.1080G>T; p.V360V; 11:218931-218931

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1150C>A; p.R384R; 11:218861-218861

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1033C>T; p.R345W; 11:218978-218978

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.985A>G; p.S329G; 11:219026-219026

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.636_637insT; p.L213fs*6; 11:233052-233053

 skin; lower_legmalignant_melanomaInsertion - Frameshift

c.176A>C; p.E59A; 11:236153-236153

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.808-4C>G; p.?; 11:224243-224243

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaUnknown

c.322G>A; p.A108T; 11:233494-233494

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1107C>T; p.G369G; 11:218904-218904

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.659G>T; p.G220V; 11:233030-233030

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.292G>A; p.G98R; 11:233524-233524

 skinmalignant_melanomaSubstitution - Missense

c.952C>T; p.L318F; 11:224095-224095

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1037A>T; p.D346V; 11:218974-218974

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1037A>T; p.D346V; 11:218974-218974

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1126C>A; p.L376I; 11:218885-218885

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.969+7C>T; p.?; 11:224071-224071

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaUnknown

c.552C>T; p.F184F; 11:233137-233137

 bone; tibiaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.872T>G; p.I291S; 11:224175-224175

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1154A>C; p.D385A; 11:218857-218857

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.455G>A; p.S152N; 11:233361-233361

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.505C>T; p.Q169*; 11:233184-233184

 skinmalignant_melanomaSubstitution - Nonsense

c.1178A>G; p.K393R; 11:218833-218833

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1034G>A; p.R345Q; 11:218977-218977

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.978T>G; p.P326P; 11:219033-219033

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.513C>T; p.Y171Y; 11:233176-233176

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.856G>A; p.V286I; 11:224191-224191

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

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