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

Basic Information

Gene ID

9049

Name

AIP

Synonymous

aryl hydrocarbon receptor interacting protein;AIP;aryl hydrocarbon receptor interacting protein

Definition

AH receptor-interacting protein|HBV X-associated protein 2|immunophilin homolog ARA9

Position

11q13.3

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 0.11.

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.504G>T; p.W168C; 11:67490073-67490073

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.703C>T; p.L235F; 11:67490373-67490373

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.174G>A; p.K58K; 11:67487080-67487080

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.803_804insC; p.F269fs*19; 11:67490803-67490804

 endometriumcarcinoma; endometrioid_carcinomaInsertion - Frameshift

c.380T>A; p.M127K; 11:67489367-67489367

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.190A>G; p.I64V; 11:67487096-67487096

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.614C>T; p.A205V; 11:67490183-67490183

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.339delC; p.L115fs*41; 11:67489326-67489326

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.339delC; p.L115fs*41; 11:67489326-67489326

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.847G>C; p.E283Q; 11:67490847-67490847

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.75C>T; p.L25L; 11:67483233-67483233

 skin; legmalignant_melanoma; superficial_spreadingSubstitution - coding silent

c.75C>T; p.L25L; 11:67483233-67483233

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.24C>G; p.L8L; 11:67483182-67483182

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.24C>G; p.L8L; 11:67483182-67483182

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.781T>C; p.Y261H; 11:67490451-67490451

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.12C>T; p.I4I; 11:67483170-67483170

 breastcarcinomaSubstitution - coding silent

c.851C>A; p.A284D; 11:67490851-67490851

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.851C>A; p.A284D; 11:67490851-67490851

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.851C>A; p.A284D; 11:67490851-67490851

 large_intestine; coloncarcinomaSubstitution - Missense

c.851C>A; p.A284D; 11:67490851-67490851

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.682C>A; p.Q228K; 11:67490352-67490352

 thyroidother; neoplasmSubstitution - Missense

c.442C>T; p.L148F; 11:67489429-67489429

 skinmalignant_melanomaSubstitution - Missense

c.710A>T; p.Y237F; 11:67490380-67490380

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.610G>A; p.D204N; 11:67490179-67490179

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.356G>A; p.R119Q; 11:67489343-67489343

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.133G>A; p.D45N; 11:67487039-67487039

 skin; trunkmalignant_melanomaSubstitution - Missense

c.133G>A; p.D45N; 11:67487039-67487039

 breastcarcinomaSubstitution - Missense

c.161G>C; p.R54P; 11:67487067-67487067

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.228C>T; p.I76I; 11:67487134-67487134

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.656G>T; p.G219V; 11:67490326-67490326

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.656G>T; p.G219V; 11:67490326-67490326

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.656G>T; p.G219V; 11:67490326-67490326

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.228C>T; p.I76I; 11:67487134-67487134

 livercarcinomaSubstitution - coding silent

c.324C>T; p.I108I; 11:67489311-67489311

 skinmalignant_melanomaSubstitution - coding silent

c.324C>T; p.I108I; 11:67489311-67489311

 pancreascarcinomaSubstitution - coding silent

c.324C>T; p.I108I; 11:67489311-67489311

 pancreascarcinomaSubstitution - coding silent

c.934_938delCGGAT; p.R312fs*>18; 11:67490934-67490938

 skin; lower_legmalignant_melanomaDeletion - Frameshift

c.967C>T; p.R323W; 11:67490967-67490967

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.972C>T; p.F324F; 11:67490972-67490972

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.972C>T; p.F324F; 11:67490972-67490972

 skinmalignant_melanomaSubstitution - coding silent

c.52A>G; p.I18V; 11:67483210-67483210

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.160C>T; p.R54W; 11:67487066-67487066

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.419C>T; p.A140V; 11:67489406-67489406

 skinmalignant_melanomaSubstitution - Missense

c.984C>A; p.F328L; 11:67490984-67490984

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.692C>T; p.T231M; 11:67490362-67490362

 meningesmeningiomaSubstitution - Missense

c.593C>A; p.A198D; 11:67490162-67490162

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.115C>T; p.R39W; 11:67487021-67487021

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.115C>T; p.R39W; 11:67487021-67487021

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.125A>G; p.H42R; 11:67487031-67487031

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.125A>G; p.H42R; 11:67487031-67487031

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.573C>T; p.R191R; 11:67490142-67490142

 large_intestine; caecumadenomaSubstitution - coding silent

c.426G>A; p.Q142Q; 11:67489413-67489413

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.695C>T; p.P232L; 11:67490365-67490365

 oesophaguscarcinomaSubstitution - Missense

c.457G>A; p.E153K; 11:67489444-67489444

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

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