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

Basic Information

Gene ID

23409

Name

SIRT4

Synonymous

sirtuin 4;SIRT4;sirtuin 4

Definition

NAD-dependent ADP-ribosyltransferase sirtuin-4|NAD-dependent protein deacetylase sirtuin-4|SIR2-like protein 4|regulatory protein SIR2 homolog 4|sir2-like 4|sirtuin type 4

Position

12q

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 0.10.

The copy number variations for various cancers

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There is no record for SIRT4

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.42C>T; p.G14G; 12:120303603-120303603

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.259C>T; p.R87C; 12:120303820-120303820

 skinmalignant_melanomaSubstitution - Missense

c.758C>T; p.A253V; 12:120312716-120312716

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.480C>T; p.L160L; 12:120304041-120304041

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - coding silent

c.589C>T; p.H197Y; 12:120312547-120312547

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.104C>T; p.A35V; 12:120303665-120303665

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.12C>T; p.S4S; 12:120303573-120303573

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.18G>T; p.A6A; 12:120303579-120303579

 prostateadenomaSubstitution - coding silent

c.290G>A; p.R97Q; 12:120303851-120303851

 thyroidcarcinomaSubstitution - Missense

c.290G>A; p.R97Q; 12:120303851-120303851

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.146G>A; p.R49H; 12:120303707-120303707

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.330C>T; p.F110F; 12:120303891-120303891

 skinmalignant_melanomaSubstitution - coding silent

c.730G>A; p.D244N; 12:120312688-120312688

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.908G>A; p.R303H; 12:120312999-120312999

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.547G>T; p.E183*; 12:120312505-120312505

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.68C>G; p.P23R; 12:120303629-120303629

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.847G>A; p.A283T; 12:120312938-120312938

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.531C>T; p.P177P; 12:120312489-120312489

 bone; femurchondrosarcomaSubstitution - coding silent

c.903T>C; p.N301N; 12:120312994-120312994

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.260G>A; p.R87H; 12:120303821-120303821

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.612C>T; p.D204D; 12:120312570-120312570

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.905C>A; p.S302Y; 12:120312996-120312996

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.792+3A>G; p.?; 12:120312753-120312753

 livercarcinomaUnknown

c.792+3A>G; p.?; 12:120312753-120312753

 livercarcinomaUnknown

c.718C>T; p.P240S; 12:120312676-120312676

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.533G>T; p.R178L; 12:120312491-120312491

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.466C>T; p.R156C; 12:120304027-120304027

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.466C>T; p.R156C; 12:120304027-120304027

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.466C>T; p.R156C; 12:120304027-120304027

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.530C>T; p.P177L; 12:120312488-120312488

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.482A>G; p.H161R; 12:120304043-120304043

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.488G>T; p.C163F; 12:120304049-120304049

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.69G>A; p.P23P; 12:120303630-120303630

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.69G>A; p.P23P; 12:120303630-120303630

 skinmalignant_melanomaSubstitution - coding silent

c.694G>A; p.V232I; 12:120312652-120312652

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.259C>A; p.R87S; 12:120303820-120303820

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.389C>T; p.T130I; 12:120303950-120303950

 skinmalignant_melanomaSubstitution - Missense

c.636C>T; p.V212V; 12:120312594-120312594

 skinmalignant_melanomaSubstitution - coding silent

c.892C>A; p.L298M; 12:120312983-120312983

 skinmalignant_melanomaSubstitution - Missense

c.361C>T; p.P121S; 12:120303922-120303922

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.533delG; p.V180fs*9; 12:120312491-120312491

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.533delG; p.V180fs*9; 12:120312491-120312491

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.239G>T; p.G80V; 12:120303800-120303800

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.157C>T; p.L53F; 12:120303718-120303718

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.759C>T; p.A253A; 12:120312717-120312717

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.84C>T; p.S28S; 12:120303645-120303645

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.631_632insA; p.V212fs*30; 12:120312589-120312590

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.656C>T; p.T219I; 12:120312614-120312614

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.532C>A; p.R178R; 12:120312490-120312490

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.872G>A; p.R291Q; 12:120312963-120312963

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.311G>A; p.R104Q; 12:120303872-120303872

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.533G>A; p.R178Q; 12:120312491-120312491

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.843G>A; p.P281P; 12:120312934-120312934

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.451A>G; p.K151E; 12:120304012-120304012

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.914G>A; p.G305E; 12:120313005-120313005

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.914G>A; p.G305E; 12:120313005-120313005

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.467G>A; p.R156H; 12:120304028-120304028

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.17C>T; p.A6V; 12:120303578-120303578

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.404G>T; p.G135V; 12:120303965-120303965

 skin; subungualmalignant_melanoma; acral_lentiginousSubstitution - Missense

c.404G>T; p.G135V; 12:120303965-120303965

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

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