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

Basic Information

Gene ID

22933

Name

SIRT2

Synonymous

sirtuin 2;SIRT2;sirtuin 2

Definition

NAD-dependent deacetylase sirtuin-2|NAD-dependent protein deacetylase sirtuin-2|SIR2-like protein 2|regulatory protein SIR2 homolog 2|silent information regulator 2|sir2-related protein type 2|sirtuin type 2|sirtuin-2

Position

19q13

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

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 0.05.

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.557C>T; p.A186V; 19:38883701-38883701

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.363C>T; p.I121I; 19:38889867-38889867

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.906C>T; p.G302G; 19:38879673-38879673

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.803_804CC>TT; p.P268L; 19:38880841-38880842

 skinmalignant_melanomaSubstitution - Missense

c.497C>T; p.T166M; 19:38889091-38889091

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.454A>G; p.M152V; 19:38889134-38889134

 livercarcinomaSubstitution - Missense

c.1062C>T; p.A354A; 19:38879263-38879263

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.219C>A; p.S73R; 19:38893421-38893421

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.145C>A; p.L49I; 19:38893495-38893495

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.585C>T; p.C195C; 19:38883673-38883673

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.585C>T; p.C195C; 19:38883673-38883673

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.383C>T; p.P128L; 19:38889738-38889738

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.725G>A; p.R242H; 19:38881122-38881122

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.608A>G; p.E203G; 19:38883650-38883650

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.457C>T; p.R153C; 19:38889131-38889131

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.586G>A; p.V196I; 19:38883672-38883672

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.718C>A; p.P240T; 19:38881129-38881129

 prostateadenomaSubstitution - Missense

c.269-8T>A; p.?; 19:38889969-38889969

 livercarcinomaUnknown

c.269-8T>A; p.?; 19:38889969-38889969

 livercarcinoma; hepatocellular_carcinomaUnknown

c.1158G>C; p.E386D; 19:38879167-38879167

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1036C>T; p.R346W; 19:38879289-38879289

 breastcarcinomaSubstitution - Missense

c.753C>T; p.F251F; 19:38880892-38880892

 skinmalignant_melanomaSubstitution - coding silent

c.951C>T; p.D317D; 19:38879497-38879497

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1021C>A; p.L341M; 19:38879304-38879304

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.226+8C>T; p.?; 19:38893406-38893406

 livercarcinomaUnknown

c.226+8C>T; p.?; 19:38893406-38893406

 livercarcinomaUnknown

c.528_529CG>TT; p.G177W; 19:38883729-38883730

 NSmalignant_melanomaSubstitution - Missense

c.528_529CG>TT; p.G177W; 19:38883729-38883730

 NSmalignant_melanomaSubstitution - Missense

c.529G>T; p.G177W; 19:38883729-38883729

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1073C>T; p.A358V; 19:38879252-38879252

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.125G>C; p.R42P; 19:38893515-38893515

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1156G>T; p.E386*; 19:38879169-38879169

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.453C>T; p.F151F; 19:38889135-38889135

 skinmalignant_melanomaSubstitution - coding silent

c.94G>A; p.A32T; 19:38893837-38893837

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.94G>A; p.A32T; 19:38893837-38893837

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.402C>T; p.L134L; 19:38889719-38889719

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.654G>A; p.T218T; 19:38881469-38881469

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.1164C>A; p.P388P; 19:38879161-38879161

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.948-2A>T; p.?; 19:38879502-38879502

 lungcarcinoma; adenocarcinomaUnknown

c.419C>A; p.P140H; 19:38889702-38889702

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.120C>T; p.F40F; 19:38893520-38893520

 skinmalignant_melanomaSubstitution - coding silent

c.296C>T; p.P99L; 19:38889934-38889934

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.568T>G; p.F190V; 19:38883690-38883690

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.756G>A; p.L252L; 19:38880889-38880889

 breastcarcinomaSubstitution - coding silent

c.397G>A; p.A133T; 19:38889724-38889724

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.397G>A; p.A133T; 19:38889724-38889724

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.397G>A; p.A133T; 19:38889724-38889724

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.607G>A; p.E203K; 19:38883651-38883651

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.697G>A; p.V233I; 19:38881150-38881150

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.697G>A; p.V233I; 19:38881150-38881150

 skin; head_neckmalignant_melanoma; superficial_spreadingSubstitution - Missense

c.16+1G>C; p.?; 19:38899505-38899505

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.705T>G; p.F235L; 19:38881142-38881142

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.234A>G; p.R78R; 19:38890137-38890137

 skinmalignant_melanomaSubstitution - coding silent

c.1074G>A; p.A358A; 19:38879251-38879251

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.85G>A; p.G29R; 19:38893846-38893846

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.639C>G; p.I213M; 19:38881484-38881484

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

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