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

Basic Information

Gene ID

5920

Name

RARRES3

Synonymous

retinoic acid receptor responder (tazarotene induced) 3;RARRES3;retinoic acid receptor responder (tazarotene induced) 3

Definition

HRAS-like suppressor 4|RAR-responsive protein TIG3|retinoic acid receptor responder protein 3|retinoic acid-inducible gene 1|retinoid-inducible gene 1 protein|tazarotene-induced gene 3 protein

Position

11q23

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 0.20.

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.264C>T; p.P88P; 11:63544766-63544766

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.396G>A; p.K132K; 11:63546157-63546157

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.191G>A; p.R64H; 11:63544693-63544693

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.191G>A; p.R64H; 11:63544693-63544693

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.413G>A; p.G138D; 11:63546174-63546174

 skinmalignant_melanomaSubstitution - Missense

c.329G>T; p.S110I; 11:63544831-63544831

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.162G>A; p.L54L; 11:63544664-63544664

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.152T>A; p.F51Y; 11:63544654-63544654

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.109G>T; p.A37S; 11:63539615-63539615

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.21G>T; p.E7D; 11:63539527-63539527

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.21G>T; p.E7D; 11:63539527-63539527

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.476delA; p.A162fs*>3; 11:63546237-63546237

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.476delA; p.A162fs*>3; 11:63546237-63546237

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.476delA; p.A162fs*>3; 11:63546237-63546237

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.476delA; p.A162fs*>3; 11:63546237-63546237

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.476delA; p.A162fs*>3; 11:63546237-63546237

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.476delA; p.A162fs*>3; 11:63546237-63546237

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.476delA; p.A162fs*>3; 11:63546237-63546237

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.476delA; p.A162fs*>3; 11:63546237-63546237

 oesophagus; lower_thirdcarcinoma; adenocarcinomaDeletion - Frameshift

c.476delA; p.A162fs*>3; 11:63546237-63546237

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.476delA; p.A162fs*>3; 11:63546237-63546237

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.476delA; p.A162fs*>3; 11:63546237-63546237

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.276C>T; p.I92I; 11:63544778-63544778

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.389T>G; p.V130G; 11:63546150-63546150

 breastcarcinomaSubstitution - Missense

c.319A>G; p.S107G; 11:63544821-63544821

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.257C>T; p.P86L; 11:63544759-63544759

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.190C>T; p.R64C; 11:63544692-63544692

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.431G>A; p.G144E; 11:63546192-63546192

 skinmalignant_melanomaSubstitution - Missense

c.34G>A; p.D12N; 11:63539540-63539540

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.236G>A; p.S79N; 11:63544738-63544738

 skinmalignant_melanomaSubstitution - Missense

c.20A>G; p.E7G; 11:63539526-63539526

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.20A>G; p.E7G; 11:63539526-63539526

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.20A>G; p.E7G; 11:63539526-63539526

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.45G>T; p.E15D; 11:63539551-63539551

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.86G>C; p.G29A; 11:63539592-63539592

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.462G>A; p.A154A; 11:63546223-63546223

 skinmalignant_melanomaSubstitution - coding silent

c.96C>T; p.Y32Y; 11:63539602-63539602

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.223C>T; p.R75W; 11:63544725-63544725

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.52C>T; p.R18C; 11:63539558-63539558

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.327G>A; p.V109V; 11:63544829-63544829

 breastcarcinomaSubstitution - coding silent

c.88G>T; p.D30Y; 11:63539594-63539594

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.475C>A; p.Q159K; 11:63546236-63546236

 skinmalignant_melanomaSubstitution - Missense

c.397G>A; p.A133T; 11:63546158-63546158

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.292G>A; p.E98K; 11:63544794-63544794

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.120T>A; p.S40R; 11:63544622-63544622

 thyroidother; neoplasmSubstitution - Missense

c.129C>T; p.P43P; 11:63544631-63544631

 skinmalignant_melanomaSubstitution - coding silent

c.122A>G; p.E41G; 11:63544624-63544624

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.122A>G; p.E41G; 11:63544624-63544624

 livercarcinomaSubstitution - Missense

c.122A>G; p.E41G; 11:63544624-63544624

 livercarcinomaSubstitution - Missense

c.422C>T; p.T141M; 11:63546183-63546183

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.470G>A; p.R157K; 11:63546231-63546231

 skinmalignant_melanomaSubstitution - Missense

c.492C>T; p.A164A; 11:63546253-63546253

 skinmalignant_melanomaSubstitution - coding silent

c.180G>A; p.V60V; 11:63544682-63544682

 breastcarcinomaSubstitution - coding silent

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