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

Basic Information

Gene ID

57111

Name

RAB25

Synonymous

RAB25, member RAS oncogene family;RAB25;RAB25, member RAS oncogene family

Definition

ras-related protein Rab-25

Position

1q22

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.376C>T; p.L126F; 1:156068394-156068394

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.154G>C; p.E52Q; 1:156066009-156066009

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.375G>A; p.M125I; 1:156068393-156068393

 breastcarcinomaSubstitution - Missense

c.522G>T; p.L174L; 1:156069747-156069747

 breastcarcinomaSubstitution - coding silent

c.537G>A; p.A179A; 1:156070170-156070170

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.274G>A; p.A92T; 1:156068292-156068292

 breastcarcinomaSubstitution - Missense

c.487_497del11; p.S163fs*1; 1:156069712-156069722

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.186C>T; p.T62T; 1:156066041-156066041

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.522G>A; p.L174L; 1:156069747-156069747

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.229C>T; p.R77W; 1:156066084-156066084

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.427G>T; p.E143*; 1:156068445-156068445

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.135C>A; p.S45R; 1:156065990-156065990

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.280C>T; p.L94L; 1:156068298-156068298

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.136C>T; p.R46C; 1:156065991-156065991

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.379G>A; p.V127M; 1:156068397-156068397

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.104G>A; p.R35Q; 1:156065959-156065959

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.104G>A; p.R35Q; 1:156065959-156065959

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.366C>T; p.I122I; 1:156068384-156068384

 skinmalignant_melanomaSubstitution - coding silent

c.43T>G; p.F15V; 1:156061431-156061431

 large_intestine; coloncarcinomaSubstitution - Missense

c.43T>G; p.F15V; 1:156061431-156061431

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.433C>T; p.R145*; 1:156068451-156068451

 skinmalignant_melanomaSubstitution - Nonsense

c.129C>T; p.H43H; 1:156065984-156065984

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.359C>T; p.A120V; 1:156068377-156068377

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.82G>A; p.G28R; 1:156065937-156065937

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.590G>A; p.G197D; 1:156070223-156070223

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.387C>T; p.N129N; 1:156068405-156068405

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.91A>G; p.N31D; 1:156065946-156065946

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.336G>A; p.K112K; 1:156068354-156068354

 thyroidcarcinomaSubstitution - coding silent

c.56-3C>T; p.?; 1:156065908-156065908

 urinary_tract; bladdercarcinomaUnknown

c.412G>C; p.E138Q; 1:156068430-156068430

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.252G>A; p.A84A; 1:156068270-156068270

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.235C>T; p.R79*; 1:156066090-156066090

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.456A>T; p.G152G; 1:156069681-156069681

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

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