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

Basic Information

Gene ID

2395

Name

FXN

Synonymous

frataxin;FXN;frataxin

Definition

Friedreich ataxia protein|frataxin, mitochondrial

Position

9q21.11

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.559G>A; p.A187T; 9:69072688-69072688

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.482G>T; p.S161I; 9:69065035-69065035

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.368A>C; p.Y123S; 9:69053244-69053244

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.548A>G; p.H183R; 9:69072677-69072677

 central_nervous_system; brainstemglioma; astrocytoma_Grade_IISubstitution - Missense

c.459A>G; p.Q153Q; 9:69065012-69065012

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelofibrosisSubstitution - coding silent

c.288A>G; p.E96E; 9:69053164-69053164

 pancreascarcinomaSubstitution - coding silent

c.486A>G; p.G162G; 9:69072615-69072615

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.392T>C; p.V131A; 9:69064945-69064945

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.320C>T; p.A107V; 9:69053196-69053196

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.550G>T; p.E184*; 9:69072679-69072679

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.327T>A; p.F109L; 9:69053203-69053203

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.542C>T; p.S181F; 9:69072671-69072671

 skin; trunkmalignant_melanomaSubstitution - Missense

c.605C>T; p.S202F; 9:69072734-69072734

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.605C>T; p.S202F; 9:69072734-69072734

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.446C>T; p.T149M; 9:69064999-69064999

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.273T>C; p.D91D; 9:69053149-69053149

 skinmalignant_melanomaSubstitution - coding silent

c.625G>C; p.D209H; 9:69072754-69072754

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.625G>C; p.D209H; 9:69072754-69072754

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

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