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

Basic Information

Gene ID

10524

Name

KAT5

Synonymous

K(lysine) acetyltransferase 5;KAT5;K(lysine) acetyltransferase 5

Definition

60 kDa Tat-interactive protein|HIV-1 Tat interactive protein, 60kDa|K-acetyltransferase 5|Tat interacting protein, 60kDa|cPLA(2)-interacting protein|cPLA2 interacting protein|histone acetyltransferase HTATIP|histone acetyltransferase KAT5

Position

11q13

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 0.11.

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.1153G>T; p.V385L; 11:65716790-65716790

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1398C>T; p.S466S; 11:65718723-65718723

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.720G>A; p.P240P; 11:65714524-65714524

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.813C>T; p.G271G; 11:65714617-65714617

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.868T>C; p.L290L; 11:65714672-65714672

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1539C>T; p.I513I; 11:65719079-65719079

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1330C>T; p.L444F; 11:65718655-65718655

 haematopoietic_and_lymphoid_tissue; breastlymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1423A>G; p.N475D; 11:65718748-65718748

 stomachadenocarcinomaSubstitution - Missense

c.1153G>A; p.V385M; 11:65716790-65716790

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1019G>C; p.R340P; 11:65714900-65714900

 central_nervous_system; braingliomaSubstitution - Missense

c.1585G>A; p.D529N; 11:65719125-65719125

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.597G>A; p.P199P; 11:65713649-65713649

 breastcarcinomaSubstitution - coding silent

c.545G>A; p.R182Q; 11:65713597-65713597

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.545G>A; p.R182Q; 11:65713597-65713597

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1011T>C; p.I337I; 11:65714892-65714892

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1456G>A; p.E486K; 11:65718904-65718904

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1282G>A; p.V428M; 11:65718607-65718607

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.911G>A; p.R304H; 11:65714715-65714715

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.498G>A; p.P166P; 11:65713461-65713461

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.593delC; p.P199fs*47; 11:65713645-65713645

 large_intestine; rectumcarcinoma; adenocarcinomaDeletion - Frameshift

c.478G>C; p.G160R; 11:65713441-65713441

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1468T>C; p.S490P; 11:65718916-65718916

 kidneyother; neoplasmSubstitution - Missense

c.1399G>A; p.G467R; 11:65718724-65718724

 pituitary; craniopharyngeal_ductcraniopharyngioma; adamantinomatousSubstitution - Missense

c.1183A>G; p.T395A; 11:65716901-65716901

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.629G>A; p.R210H; 11:65713787-65713787

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.540G>A; p.T180T; 11:65713503-65713503

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.984C>G; p.R328R; 11:65714865-65714865

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.493C>G; p.Q165E; 11:65713456-65713456

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.867A>G; p.T289T; 11:65714671-65714671

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.975G>T; p.E325D; 11:65714856-65714856

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.181C>G; p.L61V; 11:65712768-65712768

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.331C>A; p.P111T; 11:65713005-65713005

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.425C>T; p.P142L; 11:65713388-65713388

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1211T>C; p.L404P; 11:65716929-65716929

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.375G>A; p.E125E; 11:65713049-65713049

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1487A>G; p.N496S; 11:65718935-65718935

 ovaryother; neoplasmSubstitution - Missense

c.442C>T; p.R148C; 11:65713405-65713405

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.730C>T; p.R244C; 11:65714534-65714534

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1097C>T; p.T366I; 11:65716734-65716734

 livercarcinomaSubstitution - Missense

c.655C>T; p.R219W; 11:65713813-65713813

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.817C>T; p.H273Y; 11:65714621-65714621

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.197G>A; p.S66N; 11:65712784-65712784

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.247+2T>A; p.?; 11:65712836-65712836

 kidneycarcinoma; papillary_renal_cell_carcinomaUnknown

c.371_372insAG; p.V128fs*119; 11:65713045-65713046

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.405C>T; p.S135S; 11:65713368-65713368

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1424+8T>G; p.?; 11:65718757-65718757

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.757C>T; p.R253*; 11:65714561-65714561

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.222G>T; p.K74N; 11:65712809-65712809

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.359G>A; p.R120H; 11:65713033-65713033

 stomachadenocarcinomaSubstitution - Missense

c.1257C>A; p.I419I; 11:65716975-65716975

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.983G>A; p.R328H; 11:65714864-65714864

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.662G>C; p.R221P; 11:65713820-65713820

 kidneyother; neoplasmSubstitution - Missense

c.1132G>A; p.D378N; 11:65716769-65716769

 skinmalignant_melanomaSubstitution - Missense

c.1323C>T; p.D441D; 11:65718648-65718648

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1128G>T; p.E376D; 11:65716765-65716765

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.328A>G; p.T110A; 11:65713002-65713002

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1383G>A; p.G461G; 11:65718708-65718708

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1288G>A; p.G430R; 11:65718613-65718613

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1020T>C; p.R340R; 11:65714901-65714901

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1115A>T; p.Y372F; 11:65716752-65716752

 pancreascarcinomaSubstitution - Missense

c.876C>T; p.V292V; 11:65714680-65714680

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.876C>T; p.V292V; 11:65714680-65714680

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1414A>C; p.I472L; 11:65718739-65718739

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1245C>G; p.G415G; 11:65716963-65716963

 prostateadenomaSubstitution - coding silent

c.598G>A; p.A200T; 11:65713650-65713650

 pancreascarcinomaSubstitution - Missense

c.1446C>T; p.S482S; 11:65718894-65718894

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.956G>T; p.R319L; 11:65714837-65714837

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.384+2T>G; p.?; 11:65713060-65713060

 kidneycarcinoma; clear_cell_renal_cell_carcinomaUnknown

c.815G>A; p.R272Q; 11:65714619-65714619

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.130delT; p.C44fs*22; 11:65712397-65712397

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

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