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

Basic Information

Gene ID

10553

Name

HTATIP2

Synonymous

HIV-1 Tat interactive protein 2, 30kDa;HTATIP2;HIV-1 Tat interactive protein 2, 30kDa

Definition

30 kDa HIV-1 TAT-interacting protein|HIV-1 TAT-interactive protein 2|Tat-interacting protein (30kD)|oxidoreductase HTATIP2|short chain dehydrogenase/reductase family 44U, member 1

Position

11p15.1

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 0.13.

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.690C>A; p.I230I; 11:20383166-20383166

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.419A>G; p.N140S; 11:20376695-20376695

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.234C>T; p.Y78Y; 11:20367212-20367212

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.526G>C; p.E176Q; 11:20383002-20383002

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.526G>C; p.E176Q; 11:20383002-20383002

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.533G>A; p.R178H; 11:20383009-20383009

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.687C>T; p.A229A; 11:20383163-20383163

 skinmalignant_melanomaSubstitution - coding silent

c.489T>C; p.S163S; 11:20382225-20382225

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.466G>T; p.E156*; 11:20382202-20382202

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.414A>C; p.S138S; 11:20376690-20376690

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.702G>A; p.G234G; 11:20383178-20383178

 thyroidcarcinomaSubstitution - coding silent

c.488C>G; p.S163C; 11:20382224-20382224

 upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.503G>C; p.G168A; 11:20382239-20382239

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.123G>C; p.Q41H; 11:20364360-20364360

 stomachadenocarcinomaSubstitution - Missense

c.553A>G; p.R185G; 11:20383029-20383029

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.37G>A; p.D13N; 11:20364274-20364274

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.376C>T; p.H126Y; 11:20376652-20376652

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.616G>A; p.V206M; 11:20383092-20383092

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.655G>A; p.D219N; 11:20383131-20383131

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.193G>T; p.V65L; 11:20364430-20364430

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.481C>T; p.R161C; 11:20382217-20382217

 skinmalignant_melanomaSubstitution - Missense

c.214T>A; p.F72I; 11:20367192-20367192

 pancreascarcinomaSubstitution - Missense

c.19C>A; p.L7M; 11:20364256-20364256

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.454G>A; p.A152T; 11:20382190-20382190

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.304-2A>G; p.?; 11:20376578-20376578

 stomachcarcinoma; adenocarcinomaUnknown

c.202G>T; p.E68*; 11:20367180-20367180

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.235G>A; p.A79T; 11:20367213-20367213

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.520_524delAGGCA; p.Q175fs*5; 11:20382996-20383000

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.520_524delAGGCA; p.Q175fs*5; 11:20382996-20383000

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.656A>G; p.D219G; 11:20383132-20383132

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.419A>C; p.N140T; 11:20376695-20376695

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.120G>A; p.E40E; 11:20364357-20364357

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.581C>T; p.S194F; 11:20383057-20383057

 breastcarcinomaSubstitution - Missense

c.104T>C; p.L35S; 11:20364341-20364341

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.413C>G; p.S138*; 11:20376689-20376689

 breastcarcinomaSubstitution - Nonsense

c.371G>A; p.C124Y; 11:20376647-20376647

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.351G>A; p.E117E; 11:20376627-20376627

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

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