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

Basic Information

Gene ID

5906

Name

RAP1A

Synonymous

RAP1A, member of RAS oncogene family;RAP1A;RAP1A, member of RAS oncogene family

Definition

GTP-binding protein smg p21A|Ras-related protein Krev-1|ras-related protein Rap-1A

Position

1p13.3

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

Top

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.468+2T>A; p.?; 1:111704488-111704488

 stomachcarcinoma; adenocarcinomaUnknown

c.32C>T; p.S11L; 1:111691392-111691392

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.30T>G; p.G10G; 1:111691390-111691390

 skinmalignant_melanomaSubstitution - coding silent

c.266C>T; p.T89M; 1:111703418-111703418

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.259C>A; p.Q87K; 1:111703411-111703411

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.326T>C; p.V109A; 1:111704344-111704344

 livercarcinomaSubstitution - Missense

c.55C>G; p.L19V; 1:111691415-111691415

 breastcarcinomaSubstitution - Missense

c.476A>G; p.Y159C; 1:111709156-111709156

 livercarcinomaSubstitution - Missense

c.476A>G; p.Y159C; 1:111709156-111709156

 livercarcinomaSubstitution - Missense

c.139G>A; p.D47N; 1:111697453-111697453

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.136G>A; p.V46I; 1:111697450-111697450

 thyroidcarcinomaSubstitution - Missense

c.109G>T; p.E37*; 1:111695392-111695392

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.153T>A; p.C51*; 1:111697467-111697467

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.116C>T; p.S39F; 1:111695399-111695399

 skinmalignant_melanomaSubstitution - Missense

c.94T>A; p.Y32N; 1:111695377-111695377

 skin; scalpmalignant_melanomaSubstitution - Missense

c.58-1G>A; p.?; 1:111695340-111695340

 breastcarcinomaUnknown

c.247T>G; p.S83A; 1:111703399-111703399

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.274G>A; p.D92N; 1:111703426-111703426

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.248C>G; p.S83C; 1:111703400-111703400

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.283G>T; p.D95Y; 1:111703435-111703435

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.115T>C; p.S39P; 1:111695398-111695398

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.57+1G>A; p.?; 1:111691418-111691418

 skinmalignant_melanomaUnknown

c.160G>A; p.E54K; 1:111697474-111697474

 skinmalignant_melanomaSubstitution - Missense

c.160G>A; p.E54K; 1:111697474-111697474

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.333G>A; p.M111I; 1:111704351-111704351

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.144C>T; p.C48C; 1:111697458-111697458

 skinmalignant_melanomaSubstitution - coding silent

c.415T>G; p.C139G; 1:111704433-111704433

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.178_179GG>AA; p.G60K; 1:111697492-111697493

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.328C>T; p.P110S; 1:111704346-111704346

 skinmalignant_melanomaSubstitution - Missense

c.35G>A; p.G12E; 1:111691395-111691395

 pancreascarcinomaSubstitution - Missense

c.344G>A; p.G115D; 1:111704362-111704362

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.344G>A; p.G115D; 1:111704362-111704362

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.261G>T; p.Q87H; 1:111703413-111703413

 lungcarcinoma; adenocarcinomaSubstitution - Missense

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