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

Basic Information

Gene ID

3094

Name

HINT1

Synonymous

histidine triad nucleotide binding protein 1;HINT1;histidine triad nucleotide binding protein 1

Definition

adenosine 5'-monophosphoramidase|histidine triad nucleotide-binding protein 1|protein kinase C inhibitor 1|protein kinase C-interacting protein 1

Position

5q31.2

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 0.00.

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.181T>G; p.S61A; 5:131162607-131162607

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.112-1G>A; p.?; 5:131162677-131162677

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.294G>T; p.V98V; 5:131159534-131159534

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.171G>T; p.K57N; 5:131162617-131162617

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.59G>A; p.G20E; 5:131165147-131165147

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.337C>T; p.L113F; 5:131159491-131159491

 skinmalignant_melanomaSubstitution - Missense

c.205G>T; p.D69Y; 5:131162583-131162583

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.7G>A; p.D3N; 5:131165199-131165199

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.281A>G; p.Y94C; 5:131159547-131159547

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.284G>A; p.R95Q; 5:131159544-131159544

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.54C>A; p.I18I; 5:131165152-131165152

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

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