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

Basic Information

Gene ID

7879

Name

RAB7A

Synonymous

RAB7A, member RAS oncogene family;RAB7A;RAB7A, member RAS oncogene family

Definition

RAB7, member RAS oncogene family|Ras-associated protein RAB7|ras-related protein Rab-7a

Position

3q21.3

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 0.08.

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.403G>T; p.A135S; 3:128807546-128807546

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.487G>T; p.E163*; 3:128807630-128807630

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.502A>T; p.T168S; 3:128807645-128807645

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.193G>A; p.A65T; 3:128806384-128806384

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.151A>T; p.M51L; 3:128798040-128798040

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.87G>A; p.V29V; 3:128797976-128797976

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.560C>T; p.P187L; 3:128813358-128813358

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.69A>G; p.S23S; 3:128797958-128797958

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.334C>T; p.P112S; 3:128806525-128806525

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.213G>C; p.Q71H; 3:128806404-128806404

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.27G>A; p.L9L; 3:128795394-128795394

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.553G>A; p.E185K; 3:128813351-128813351

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.603G>A; p.S201S; 3:128813401-128813401

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.324C>T; p.I108I; 3:128806515-128806515

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.227C>T; p.A76V; 3:128806418-128806418

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.219C>T; p.L73L; 3:128806410-128806410

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.413G>A; p.R138Q; 3:128807556-128807556

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.189C>A; p.D63E; 3:128806380-128806380

 skinmalignant_melanomaSubstitution - Missense

c.160G>C; p.D54H; 3:128798049-128798049

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.388G>A; p.E130K; 3:128806579-128806579

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.388G>A; p.E130K; 3:128806579-128806579

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.388G>A; p.E130K; 3:128806579-128806579

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.287T>G; p.F96C; 3:128806478-128806478

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

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