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

Basic Information

Gene ID

3065

Name

HDAC1

Synonymous

histone deacetylase 1;HDAC1;histone deacetylase 1

Definition

reduced potassium dependency, yeast homolog-like 1

Position

1p34

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 0.18.

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.1191C>T; p.D397D; 1:32331778-32331778

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.943G>A; p.E315K; 1:32330872-32330872

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.92A>C; p.K31T; 1:32302663-32302663

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.943G>A; p.E315K; 1:32330872-32330872

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.74G>C; p.G25A; 1:32302645-32302645

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.767C>T; p.A256V; 1:32330615-32330615

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1397_1399delAGG; p.E468delE; 1:32332725-32332727

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.1397_1399delAGG; p.E468delE; 1:32332725-32332727

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.1397_1399delAGG; p.E468delE; 1:32332725-32332727

 large_intestinecarcinoma; adenocarcinomaDeletion - In frame

c.1397_1399delAGG; p.E468delE; 1:32332725-32332727

 large_intestinecarcinoma; adenocarcinomaDeletion - In frame

c.795C>T; p.S265S; 1:32330643-32330643

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1397_1399delAGG; p.E468delE; 1:32332725-32332727

 endometriumcarcinoma; endometrioid_carcinomaDeletion - In frame

c.436G>A; p.E146K; 1:32327019-32327019

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.449T>G; p.F150C; 1:32327032-32327032

 pancreascarcinomaSubstitution - Missense

c.540T>C; p.G180G; 1:32327581-32327581

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1108C>T; p.L370F; 1:32331695-32331695

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.183T>A; p.A61A; 1:32316685-32316685

 livercarcinomaSubstitution - coding silent

c.183T>A; p.A61A; 1:32316685-32316685

 livercarcinomaSubstitution - coding silent

c.1023C>G; p.F341L; 1:32331517-32331517

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.229C>T; p.R77C; 1:32316731-32316731

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.229C>T; p.R77C; 1:32316731-32316731

 lungcarcinoma; bronchioloalveolar_adenocarcinomaSubstitution - Missense

c.1335_1336delAG; p.E446fs*2; 1:32332205-32332206

 breastcarcinomaDeletion - Frameshift

c.1162G>A; p.A388T; 1:32331749-32331749

 lungcarcinoid-endocrine_tumour; atypicalSubstitution - Missense

c.1162G>A; p.A388T; 1:32331749-32331749

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.921C>T; p.N307N; 1:32330850-32330850

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.286G>A; p.V96I; 1:32324484-32324484

 breastcarcinomaSubstitution - Missense

c.1422G>A; p.G474G; 1:32333017-32333017

 breastcarcinomaSubstitution - coding silent

c.844G>A; p.A282T; 1:32330773-32330773

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1422-2A>T; p.?; 1:32333015-32333015

 breastcarcinomaUnknown

c.1103A>G; p.E368G; 1:32331690-32331690

 skinmalignant_melanomaSubstitution - Missense

c.685C>T; p.R229*; 1:32329116-32329116

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.74G>A; p.G25E; 1:32302645-32302645

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.74G>A; p.G25E; 1:32302645-32302645

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.232T>C; p.S78P; 1:32316734-32316734

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1188G>C; p.E396D; 1:32331775-32331775

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.258G>C; p.E86D; 1:32316760-32316760

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.418C>T; p.H140Y; 1:32327001-32327001

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.618A>G; p.P206P; 1:32327659-32327659

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.895G>T; p.G299*; 1:32330824-32330824

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1090C>T; p.Q364*; 1:32331677-32331677

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.839-2_839-1insG; p.?; 1:32330766-32330767

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.1093C>T; p.R365*; 1:32331680-32331680

 thyroidcarcinoma; anaplastic_carcinomaSubstitution - Nonsense

c.1372+9G>A; p.?; 1:32332251-32332251

 pancreascarcinomaUnknown

c.750G>A; p.E250E; 1:32330598-32330598

 skinmalignant_melanomaSubstitution - coding silent

c.49+1G>C; p.?; 1:32292219-32292219

 livercarcinomaUnknown

c.637-1G>A; p.?; 1:32329067-32329067

 skinmalignant_melanomaUnknown

c.809G>A; p.R270Q; 1:32330657-32330657

 pancreascarcinomaSubstitution - Missense

c.1192G>A; p.E398K; 1:32331779-32331779

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1192G>A; p.E398K; 1:32331779-32331779

 breastcarcinomaSubstitution - Missense

c.50-2A>G; p.?; 1:32302619-32302619

 breastcarcinomaUnknown

c.609G>T; p.E203D; 1:32327650-32327650

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1363G>A; p.E455K; 1:32332233-32332233

 skin; trunkmalignant_melanomaSubstitution - Missense

c.966G>T; p.T322T; 1:32330895-32330895

 breastcarcinomaSubstitution - coding silent

c.839-2A>G; p.?; 1:32330766-32330766

 livercarcinomaUnknown

c.237C>T; p.I79I; 1:32316739-32316739

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.281-2A>T; p.?; 1:32324477-32324477

 oesophaguscarcinoma; adenocarcinomaUnknown

c.206G>A; p.S69N; 1:32316708-32316708

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.199T>C; p.Y67H; 1:32316701-32316701

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.199T>C; p.Y67H; 1:32316701-32316701

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.570G>A; p.T190T; 1:32327611-32327611

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.468C>T; p.I156I; 1:32327051-32327051

 skinmalignant_melanomaSubstitution - coding silent

c.468C>T; p.I156I; 1:32327051-32327051

 NSNSSubstitution - coding silent

c.162T>C; p.Y54Y; 1:32302733-32302733

 pancreascarcinomaSubstitution - coding silent

c.691G>A; p.G231R; 1:32329122-32329122

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1135G>T; p.V379F; 1:32331722-32331722

 breastcarcinomaSubstitution - Missense

c.932G>A; p.C311Y; 1:32330861-32330861

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1291C>T; p.R431C; 1:32332161-32332161

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1292G>A; p.R431H; 1:32332162-32332162

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1264G>A; p.D422N; 1:32332134-32332134

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.101G>A; p.R34Q; 1:32302672-32302672

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.101G>A; p.R34Q; 1:32302672-32302672

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1094G>A; p.R365Q; 1:32331681-32331681

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.504G>A; p.Q168Q; 1:32327545-32327545

 breastcarcinomaSubstitution - coding silent

c.1126G>A; p.A376T; 1:32331713-32331713

 breastcarcinomaSubstitution - Missense

c.922G>A; p.V308I; 1:32330851-32330851

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.240T>C; p.R80R; 1:32316742-32316742

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.917G>T; p.R306L; 1:32330846-32330846

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.756C>T; p.F252F; 1:32330604-32330604

 skinmalignant_melanomaSubstitution - coding silent

c.341C>T; p.T114I; 1:32324539-32324539

 pancreascarcinomaSubstitution - Missense

c.664T>G; p.Y222D; 1:32329095-32329095

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.813A>G; p.L271L; 1:32330661-32330661

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1360_1362delGAG; p.E455delE; 1:32332230-32332232

 endometriumcarcinoma; endometrioid_carcinomaDeletion - In frame

c.1381G>A; p.E461K; 1:32332709-32332709

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

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