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

Basic Information

Gene ID

11337

Name

GABARAP

Synonymous

GABA(A) receptor-associated protein;GABARAP;GABA(A) receptor-associated protein

Definition

gamma-aminobutyric acid receptor-associated protein

Position

17p13.1

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 0.00.

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.3G>A; p.M1I; 17:7242328-7242328

urinary_tract; bladdercarcinomaSubstitution - Missense

c.210C>T; p.L70L; 17:7241420-7241420

skinmalignant_melanomaSubstitution - coding silent

c.300A>C; p.E100D; 17:7240908-7240908

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.43C>A; p.R15S; 17:7242288-7242288

livercarcinomaSubstitution - Missense

c.49G>A; p.E17K; 17:7242282-7242282

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.80A>G; p.D27G; 17:7242251-7242251

breastcarcinomaSubstitution - Missense

c.318C>T; p.Y106Y; 17:7240890-7240890

breastcarcinomaSubstitution - coding silent

c.186C>T; p.F62F; 17:7241444-7241444

breastcarcinomaSubstitution - coding silent

c.238G>A; p.V80I; 17:7241392-7241392

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.81_82CC>TT; p.R28W; 17:7242249-7242250

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.30G>A; p.P10P; 17:7242301-7242301

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.333C>T; p.D111D; 17:7240875-7240875

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.286C>A; p.Q96K; 17:7241344-7241344

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense


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