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

Basic Information

Gene ID

148252

Name

DIRAS1

Synonymous

DIRAS family, GTP-binding RAS-like 1;DIRAS1;DIRAS family, GTP-binding RAS-like 1

Definition

GTP-binding protein Di-Ras1|distinct subgroup of the Ras family member 1|ras-related inhibitor of cell growth|small GTP-binding tumor suppressor 1

Position

19p13.3

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 0.04.

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.469G>A; p.V157I; 19:2717338-2717338

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.383G>A; p.R128Q; 19:2717424-2717424

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.329G>A; p.S110N; 19:2717478-2717478

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.44C>T; p.A15V; 19:2717763-2717763

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.242C>G; p.A81G; 19:2717565-2717565

 stomachadenocarcinomaSubstitution - Missense

c.70G>T; p.V24L; 19:2717737-2717737

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.406C>T; p.Q136*; 19:2717401-2717401

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.52G>A; p.V18M; 19:2717755-2717755

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.480C>T; p.L160L; 19:2717327-2717327

 skinmalignant_melanomaSubstitution - coding silent

c.352C>T; p.L118F; 19:2717455-2717455

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.28G>A; p.V10M; 19:2717779-2717779

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.134G>A; p.R45Q; 19:2717673-2717673

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.592A>G; p.M198V; 19:2717215-2717215

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.237C>T; p.G79G; 19:2717570-2717570

 ovaryother; neoplasmSubstitution - coding silent

c.509G>A; p.R170H; 19:2717298-2717298

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.278C>A; p.S93*; 19:2717529-2717529

 pancreascarcinomaSubstitution - Nonsense

c.139G>A; p.V47M; 19:2717668-2717668

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.27C>T; p.R9R; 19:2717780-2717780

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.345C>T; p.P115P; 19:2717462-2717462

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.55G>T; p.G19C; 19:2717752-2717752

 prostatecarcinomaSubstitution - Missense

c.19G>A; p.D7N; 19:2717788-2717788

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.296C>T; p.P99L; 19:2717511-2717511

 pancreascarcinomaSubstitution - Missense

c.87G>T; p.K29N; 19:2717720-2717720

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.225C>T; p.S75S; 19:2717582-2717582

 pancreascarcinomaSubstitution - coding silent

c.355G>A; p.V119M; 19:2717452-2717452

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.235G>T; p.G79C; 19:2717572-2717572

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.235G>T; p.G79C; 19:2717572-2717572

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.432C>T; p.C144C; 19:2717375-2717375

 lung; left_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.279G>A; p.S93S; 19:2717528-2717528

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.399C>T; p.R133R; 19:2717408-2717408

 breastcarcinomaSubstitution - coding silent

c.545C>T; p.S182F; 19:2717262-2717262

 skinmalignant_melanomaSubstitution - Missense

c.545C>T; p.S182F; 19:2717262-2717262

 skinmalignant_melanomaSubstitution - Missense

c.545C>T; p.S182F; 19:2717262-2717262

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.404C>T; p.A135V; 19:2717403-2717403

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.438C>T; p.F146F; 19:2717369-2717369

 skinmalignant_melanomaSubstitution - coding silent

c.41G>T; p.G14V; 19:2717766-2717766

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.356T>A; p.V119E; 19:2717451-2717451

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.190G>T; p.G64C; 19:2717617-2717617

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.547G>A; p.G183R; 19:2717260-2717260

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.382C>T; p.R128W; 19:2717425-2717425

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.382C>T; p.R128W; 19:2717425-2717425

 pancreascarcinomaSubstitution - Missense

c.30G>T; p.V10V; 19:2717777-2717777

 livercarcinomaSubstitution - coding silent

c.30G>T; p.V10V; 19:2717777-2717777

 livercarcinomaSubstitution - coding silent

c.206C>T; p.P69L; 19:2717601-2717601

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.5C>T; p.P2L; 19:2717802-2717802

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.71T>A; p.V24E; 19:2717736-2717736

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.136C>T; p.Q46*; 19:2717671-2717671

 skinmalignant_melanomaSubstitution - Nonsense

c.314T>C; p.V105A; 19:2717493-2717493

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.77G>A; p.R26H; 19:2717730-2717730

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.81C>T; p.F27F; 19:2717726-2717726

 skinmalignant_melanomaSubstitution - coding silent

c.449C>T; p.S150L; 19:2717358-2717358

 skinmalignant_melanomaSubstitution - Missense

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