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

Basic Information

Gene ID

2170

Name

FABP3

Synonymous

fatty acid binding protein 3, muscle and heart;FABP3;fatty acid binding protein 3, muscle and heart

Definition

Fatty acid-binding protein 3, muscle|fatty acid binding protein 11|fatty acid-binding protein, heart|heart-type fatty acid-binding protein|mammary-derived growth inhibitor|muscle fatty acid-binding protein

Position

1p33-p32

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.51C>T; p.F17F; 1:31372964-31372964

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.299G>A; p.G100E; 1:31367442-31367442

 skinmalignant_melanomaSubstitution - Missense

c.53A>T; p.D18V; 1:31372962-31372962

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.15C>T; p.F5F; 1:31373000-31373000

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.142G>A; p.D48N; 1:31369489-31369489

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.206T>G; p.V69G; 1:31369425-31369425

 breastcarcinomaSubstitution - Missense

c.307A>T; p.T103S; 1:31367434-31367434

 small_intestinecarcinoid-endocrine_tumourSubstitution - Missense

c.214G>A; p.D72N; 1:31369417-31369417

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.321G>A; p.R107R; 1:31367420-31367420

 skinmalignant_melanomaSubstitution - coding silent

c.287A>C; p.Q96P; 1:31367454-31367454

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.319C>T; p.R107W; 1:31367422-31367422

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.130G>A; p.E44K; 1:31369501-31369501

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.130G>A; p.E44K; 1:31369501-31369501

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.52G>A; p.D18N; 1:31372963-31372963

 ovarycarcinomaSubstitution - Missense

c.9C>T; p.D3D; 1:31373006-31373006

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.55G>T; p.D19Y; 1:31372960-31372960

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.361G>A; p.G121S; 1:31365927-31365927

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.18G>T; p.L6L; 1:31372997-31372997

 thyroidcarcinomaSubstitution - coding silent

c.10G>A; p.A4T; 1:31373005-31373005

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.10G>A; p.A4T; 1:31373005-31373005

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.213C>T; p.F71F; 1:31369418-31369418

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.17T>G; p.L6R; 1:31372998-31372998

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.375C>T; p.C125C; 1:31365913-31365913

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.270G>A; p.G90G; 1:31367471-31367471

 skinmalignant_melanomaSubstitution - coding silent

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