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

Basic Information

Gene ID

5947

Name

RBP1

Synonymous

retinol binding protein 1, cellular;RBP1;retinol binding protein 1, cellular

Definition

CRBP-I|cellular retinol-binding protein I|retinol-binding protein 1|retinol-binding protein 1, cellular

Position

3q23

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.371G>A; p.G124D; 3:139517664-139517664

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.307G>A; p.E103K; 3:139518468-139518468

 skinmalignant_melanomaSubstitution - Missense

c.270C>T; p.D90D; 3:139518505-139518505

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - coding silent

c.92G>A; p.R31H; 3:139538941-139538941

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.92G>A; p.R31H; 3:139538941-139538941

 pancreascarcinomaSubstitution - Missense

c.27G>A; p.W9*; 3:139539506-139539506

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.208G>A; p.E70K; 3:139538825-139538825

 skinmalignant_melanomaSubstitution - Missense

c.40A>G; p.N14D; 3:139539493-139539493

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.230G>A; p.G77D; 3:139538803-139538803

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.355G>A; p.E119K; 3:139517680-139517680

 skinmalignant_melanomaSubstitution - Missense

c.157C>T; p.R53C; 3:139538876-139538876

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.10G>A; p.D4N; 3:139539523-139539523

 breastcarcinomaSubstitution - Missense

c.251T>C; p.M84T; 3:139538782-139538782

 livercarcinomaSubstitution - Missense

c.138C>T; p.D46D; 3:139538895-139538895

 prostatecarcinomaSubstitution - coding silent

c.309G>A; p.E103E; 3:139518466-139518466

 central_nervous_system; braingliomaSubstitution - coding silent

c.400G>A; p.V134M; 3:139517635-139517635

 skinmalignant_melanomaSubstitution - Missense

c.20G>T; p.G7V; 3:139539513-139539513

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.55G>A; p.E19K; 3:139539478-139539478

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.85G>A; p.A29T; 3:139538948-139538948

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.299G>A; p.G100D; 3:139518476-139518476

 skinmalignant_melanomaSubstitution - Missense

c.393C>T; p.F131F; 3:139517642-139517642

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.74-4G>A; p.?; 3:139538963-139538963

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.407G>A; p.*136*; 3:139517628-139517628

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.91C>T; p.R31C; 3:139538942-139538942

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.129C>T; p.I43I; 3:139538904-139538904

 breastcarcinomaSubstitution - coding silent

c.14T>C; p.F5S; 3:139539519-139539519

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.321G>T; p.W107C; 3:139518454-139518454

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.51C>T; p.F17F; 3:139539482-139539482

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.272G>A; p.G91E; 3:139518503-139518503

 skinmalignant_melanomaSubstitution - Missense

c.124G>A; p.E42K; 3:139538909-139538909

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.360G>A; p.M120I; 3:139517675-139517675

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.152T>G; p.I51S; 3:139538881-139538881

 meningesmeningiomaSubstitution - Missense

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