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

Basic Information

Gene ID

8841

Name

HDAC3

Synonymous

histone deacetylase 3;HDAC3;histone deacetylase 3

Definition

SMAP45

Position

5q31

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 0.08.

The copy number variations for various cancers

Top

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.1168A>G; p.T390A; 5:141625257-141625257

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.314C>T; p.S105L; 5:141630093-141630093

skinmalignant_melanomaSubstitution - Missense

c.292C>T; p.P98S; 5:141630115-141630115

skinmalignant_melanomaSubstitution - Missense

c.109C>A; p.L37M; 5:141636577-141636577

skinmalignant_melanomaSubstitution - Missense

c.820C>T; p.R274*; 5:141627903-141627903

livercarcinoma; hepatocellular_carcinomaSubstitution - Nonsense

c.820C>T; p.R274*; 5:141627903-141627903

skin; trunkmalignant_melanoma; nodularSubstitution - Nonsense

c.532C>T; p.Q178*; 5:141629251-141629251

skinmalignant_melanomaSubstitution - Nonsense

c.926A>G; p.Y309C; 5:141626066-141626066

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.268G>A; p.V90I; 5:141634824-141634824

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.915C>G; p.R305R; 5:141626199-141626199

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.980-3A>T; p.?; 5:141625767-141625767

livercarcinomaUnknown

c.980-3A>T; p.?; 5:141625767-141625767

livercarcinoma; hepatocellular_carcinomaUnknown

c.980-3A>T; p.?; 5:141625767-141625767

livercarcinomaUnknown

c.302T>C; p.F101S; 5:141630105-141630105

skinmalignant_melanomaSubstitution - Missense

c.665C>T; p.P222L; 5:141628585-141628585

skinmalignant_melanomaSubstitution - Missense

c.221G>A; p.S74N; 5:141634871-141634871

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.317G>A; p.R106H; 5:141630090-141630090

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.980-1G>T; p.?; 5:141625765-141625765

endometriumcarcinoma; endometrioid_carcinomaUnknown

c.489G>A; p.R163R; 5:141629294-141629294

livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.460A>G; p.I154V; 5:141629700-141629700

oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1198_1199CC>TT; p.P400F; 5:141625226-141625227

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1041G>T; p.E347D; 5:141625703-141625703

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.884G>A; p.G295D; 5:141626230-141626230

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.178C>T; p.R60C; 5:141634914-141634914

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1012C>T; p.L338F; 5:141625732-141625732

breastcarcinomaSubstitution - Missense

c.316C>T; p.R106C; 5:141630091-141630091

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.936G>A; p.S312S; 5:141626056-141626056

livercarcinomaSubstitution - coding silent

c.155A>G; p.Q52R; 5:141634937-141634937

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.750G>A; p.T250T; 5:141628129-141628129

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.179G>A; p.R60H; 5:141634913-141634913

pancreascarcinomaSubstitution - Missense

c.477-1G>T; p.?; 5:141629307-141629307

large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.71T>C; p.M24T; 5:141636615-141636615

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.660C>T; p.N220N; 5:141628590-141628590

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.165A>G; p.Q55Q; 5:141634927-141634927

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.165A>G; p.Q55Q; 5:141634927-141634927

thyroidother; neoplasmSubstitution - coding silent

c.132G>T; p.K44N; 5:141636554-141636554

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.902G>T; p.R301L; 5:141626212-141626212

upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.315G>A; p.S105S; 5:141630092-141630092

pancreascarcinomaSubstitution - coding silent

c.315G>A; p.S105S; 5:141630092-141630092

pancreascarcinomaSubstitution - coding silent

c.315G>A; p.S105S; 5:141630092-141630092

pancreascarcinomaSubstitution - coding silent

c.477-1G>A; p.?; 5:141629307-141629307

skinmalignant_melanomaUnknown

c.277G>A; p.D93N; 5:141634815-141634815

prostatecarcinomaSubstitution - Missense

c.139-10C>A; p.?; 5:141634963-141634963

prostatecarcinoma; adenocarcinomaUnknown

c.420+1G>T; p.?; 5:141629859-141629859

ovarycarcinoma; serous_carcinomaUnknown

c.189C>T; p.S63S; 5:141634903-141634903

skinmalignant_melanomaSubstitution - coding silent

c.571T>C; p.S191P; 5:141629212-141629212

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.273C>T; p.G91G; 5:141634819-141634819

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.334C>T; p.L112L; 5:141630073-141630073

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.16G>A; p.A6T; 5:141636775-141636775

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.273C>T; p.G91G; 5:141634819-141634819

stomachadenocarcinomaSubstitution - coding silent

c.328G>A; p.A110T; 5:141630079-141630079

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.328G>A; p.A110T; 5:141630079-141630079

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.313T>C; p.S105P; 5:141630094-141630094

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.949G>T; p.E317*; 5:141626043-141626043

lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.793C>T; p.R265*; 5:141627930-141627930

skinmalignant_melanomaSubstitution - Nonsense

c.793C>T; p.R265*; 5:141627930-141627930

skin; trunkmalignant_melanoma; nodularSubstitution - Nonsense

c.202G>A; p.D68N; 5:141634890-141634890

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.998C>T; p.A333V; 5:141625746-141625746

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.476+10C>A; p.?; 5:141629674-141629674

livercarcinomaUnknown

c.476+10C>A; p.?; 5:141629674-141629674

livercarcinomaUnknown

c.1118C>T; p.P373L; 5:141625307-141625307

skinmalignant_melanomaSubstitution - Missense

c.1261G>T; p.D421Y; 5:141621494-141621494

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.510C>T; p.D170D; 5:141629273-141629273

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.643C>T; p.R215C; 5:141628607-141628607

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.837C>T; p.C279C; 5:141626277-141626277

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.837C>T; p.C279C; 5:141626277-141626277

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.526G>C; p.G176R; 5:141629257-141629257

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.893A>T; p.Y298F; 5:141626221-141626221

livercarcinomaSubstitution - Missense

c.295G>A; p.G99R; 5:141630112-141630112

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.295G>A; p.G99R; 5:141630112-141630112

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.988G>A; p.E330K; 5:141625756-141625756

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.567G>A; p.T189T; 5:141629216-141629216

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.685G>T; p.D229Y; 5:141628565-141628565

thyroidother; neoplasmSubstitution - Missense

c.838G>A; p.V280I; 5:141626276-141626276

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.838G>A; p.V280I; 5:141626276-141626276

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1057C>T; p.Q353*; 5:141625687-141625687

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.188_189CC>AT; p.S63Y; 5:141634903-141634904

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1232A>G; p.N411S; 5:141621523-141621523

breastcarcinomaSubstitution - Missense

c.332C>T; p.S111F; 5:141630075-141630075

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1098G>T; p.L366L; 5:141625327-141625327

skinmalignant_melanomaSubstitution - coding silent

c.443A>G; p.N148S; 5:141629717-141629717

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1098G>T; p.L366L; 5:141625327-141625327

skinmalignant_melanomaSubstitution - coding silent

c.1137C>T; p.D379D; 5:141625288-141625288

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.272G>A; p.G91D; 5:141634820-141634820

skin; trunkmalignant_melanomaSubstitution - Missense


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