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

Basic Information

Gene ID

199

Name

AIF1

Synonymous

allograft inflammatory factor 1;AIF1;allograft inflammatory factor 1

Definition

allograft inflammatory factor-1 splice variant Hara-1|interferon gamma responsive transcript|ionized calcium-binding adapter molecule 1|protein G1

Position

6p21.3

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 0.20.

The copy number variations for various cancers

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There is no record for AIF1

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.16G>A; p.D6N; 6:31615345-31615345

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.16G>A; p.D6N; 6:31615345-31615345

 skinmalignant_melanomaSubstitution - Missense

c.324G>A; p.R108R; 6:31616471-31616471

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.55C>A; p.Q19K; 6:31615550-31615550

 skinmalignant_melanomaSubstitution - Missense

c.364C>A; p.L122M; 6:31616820-31616820

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.394G>A; p.E132K; 6:31616850-31616850

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.394G>A; p.E132K; 6:31616850-31616850

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.406G>T; p.G136C; 6:31616862-31616862

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.196+9C>T; p.?; 6:31616154-31616154

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.429C>A; p.I143I; 6:31616885-31616885

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.381A>G; p.K127K; 6:31616837-31616837

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.130C>T; p.P44S; 6:31615712-31615712

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.220C>G; p.L74V; 6:31616367-31616367

 pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.223G>T; p.E75*; 6:31616370-31616370

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.237C>A; p.V79V; 6:31616384-31616384

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.197A>G; p.D66G; 6:31616344-31616344

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.440C>T; p.P147L; 6:31616896-31616896

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.418A>G; p.K140E; 6:31616874-31616874

 skinmalignant_melanomaSubstitution - Missense

c.363C>T; p.I121I; 6:31616819-31616819

 skinmalignant_melanomaSubstitution - coding silent

c.39C>T; p.F13F; 6:31615534-31615534

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.197A>T; p.D66V; 6:31616344-31616344

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.291C>T; p.S97S; 6:31616438-31616438

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.433G>A; p.E145K; 6:31616889-31616889

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.99C>T; p.D33D; 6:31615681-31615681

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

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