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

Basic Information

Gene ID

51548

Name

SIRT6

Synonymous

sirtuin 6;SIRT6;sirtuin 6

Definition

NAD-dependent deacetylase sirtuin-6|NAD-dependent protein deacetylase sirtuin-6|SIR2-like protein 6|regulatory protein SIR2 homolog 6|sir2-related protein type 6|sirtuin type 6

Position

19p13.3

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

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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 0.20.

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.590T>C; p.L197P; 19:4175704-4175704

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.789C>T; p.T263T; 19:4174896-4174896

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.964C>T; p.Q322*; 19:4174721-4174721

 breastcarcinomaSubstitution - Nonsense

c.870C>T; p.P290P; 19:4174815-4174815

 skinmalignant_melanomaSubstitution - coding silent

c.137G>A; p.S46N; 19:4180839-4180839

 breastcarcinomaSubstitution - Missense

c.23G>A; p.G8E; 19:4182517-4182517

 skinmalignant_melanomaSubstitution - Missense

c.23G>A; p.G8E; 19:4182517-4182517

 skinmalignant_melanomaSubstitution - Missense

c.23G>A; p.G8E; 19:4182517-4182517

 skinmalignant_melanomaSubstitution - Missense

c.23G>A; p.G8E; 19:4182517-4182517

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.72C>T; p.F24F; 19:4180904-4180904

 skinmalignant_melanomaSubstitution - coding silent

c.741C>T; p.D247D; 19:4174944-4174944

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.404delA; p.N135fs*25; 19:4177112-4177112

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaDeletion - Frameshift

c.79C>T; p.P27S; 19:4180897-4180897

 skinmalignant_melanomaSubstitution - Missense

c.311T>A; p.V104E; 19:4179170-4179170

 thyroidother; neoplasmSubstitution - Missense

c.778G>T; p.E260*; 19:4174907-4174907

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.265G>T; p.A89S; 19:4179216-4179216

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.752A>C; p.D251A; 19:4174933-4174933

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.242A>G; p.K81R; 19:4179239-4179239

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1002G>A; p.E334E; 19:4174683-4174683

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.80C>G; p.P27R; 19:4180896-4180896

 salivary_glandcarcinoma; adenoid_cystic_carcinomaSubstitution - Missense

c.365C>G; p.S122*; 19:4179116-4179116

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.367G>T; p.G123C; 19:4179114-4179114

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.367G>T; p.G123C; 19:4179114-4179114

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.956C>T; p.P319L; 19:4174729-4174729

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.671A>C; p.N224T; 19:4175095-4175095

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.671A>C; p.N224T; 19:4175095-4175095

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.671A>C; p.N224T; 19:4175095-4175095

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.671A>C; p.N224T; 19:4175095-4175095

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.671A>C; p.N224T; 19:4175095-4175095

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.671A>C; p.N224T; 19:4175095-4175095

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.671A>C; p.N224T; 19:4175095-4175095

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.483C>T; p.A161A; 19:4175892-4175892

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.15C>T; p.Y5Y; 19:4182525-4182525

 autonomic_ganglianeuroblastomaSubstitution - coding silent

c.703C>T; p.R235C; 19:4175063-4175063

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.205G>A; p.G69R; 19:4179276-4179276

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.194+7G>A; p.?; 19:4180775-4180775

 pancreascarcinomaUnknown

c.924C>G; p.N308K; 19:4174761-4174761

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.107A>T; p.E36V; 19:4180869-4180869

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.757C>T; p.R253C; 19:4174928-4174928

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.243G>T; p.K81N; 19:4179238-4179238

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.937G>T; p.A313S; 19:4174748-4174748

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.346G>A; p.D116N; 19:4179135-4179135

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.712A>G; p.I238V; 19:4175054-4175054

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1059C>T; p.V353V; 19:4174626-4174626

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1059C>T; p.V353V; 19:4174626-4174626

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.73G>A; p.D25N; 19:4180903-4180903

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.362G>T; p.R121L; 19:4179119-4179119

 livercarcinomaSubstitution - Missense

c.246C>A; p.F82L; 19:4179235-4179235

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

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