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

Basic Information

Gene ID

9077

Name

DIRAS3

Synonymous

DIRAS family, GTP-binding RAS-like 3;DIRAS3;DIRAS family, GTP-binding RAS-like 3

Definition

GTP-binding protein Di-Ras3|distinct subgroup of the Ras family member 3|ras homolog gene family, member I|rho-related GTP-binding protein RhoI

Position

1p31

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 0.05.

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.551C>G; p.T184S; 1:68046747-68046747

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.285C>T; p.G95G; 1:68047013-68047013

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.429T>G; p.H143Q; 1:68046869-68046869

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; follicular_lymphomaSubstitution - Missense

c.155C>T; p.T52M; 1:68047143-68047143

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.665T>A; p.L222Q; 1:68046633-68046633

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.417T>C; p.G139G; 1:68046881-68046881

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.199C>T; p.L67L; 1:68047099-68047099

 skinmalignant_melanomaSubstitution - coding silent

c.46C>G; p.R16G; 1:68047252-68047252

 pleurapulmonary_blastomaSubstitution - Missense

c.261G>A; p.L87L; 1:68047037-68047037

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; Burkitt_lymphomaSubstitution - coding silent

c.148A>G; p.K50E; 1:68047150-68047150

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.612C>T; p.T204T; 1:68046686-68046686

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.123G>T; p.V41V; 1:68047175-68047175

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.612C>T; p.T204T; 1:68046686-68046686

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.612C>T; p.T204T; 1:68046686-68046686

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.114C>T; p.Y38Y; 1:68047184-68047184

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.123G>A; p.V41V; 1:68047175-68047175

 skinmalignant_melanomaSubstitution - coding silent

c.288C>T; p.D96D; 1:68047010-68047010

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.649A>G; p.N217D; 1:68046649-68046649

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.597G>A; p.K199K; 1:68046701-68046701

 skinmalignant_melanomaSubstitution - coding silent

c.337G>A; p.V113I; 1:68046961-68046961

 salivary_glandcarcinoma; adenoid_cystic_carcinomaSubstitution - Missense

c.221A>T; p.Y74F; 1:68047077-68047077

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; follicular_lymphomaSubstitution - Missense

c.177C>T; p.S59S; 1:68047121-68047121

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.522T>A; p.N174K; 1:68046776-68046776

 skinmalignant_melanomaSubstitution - Missense

c.308G>T; p.R103L; 1:68046990-68046990

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.296G>A; p.R99H; 1:68047002-68047002

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.59T>A; p.L20Q; 1:68047239-68047239

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.296G>A; p.R99H; 1:68047002-68047002

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.296G>C; p.R99P; 1:68047002-68047002

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.402C>A; p.I134I; 1:68046896-68046896

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.322C>T; p.R108W; 1:68046976-68046976

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.514G>A; p.E172K; 1:68046784-68046784

 skinmalignant_melanomaSubstitution - Missense

c.286G>A; p.D96N; 1:68047012-68047012

 skin; acralmalignant_melanomaSubstitution - Missense

c.298G>A; p.A100T; 1:68047000-68047000

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.298G>A; p.A100T; 1:68047000-68047000

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.298G>A; p.A100T; 1:68047000-68047000

 NSNSSubstitution - Missense

c.298G>A; p.A100T; 1:68047000-68047000

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.298G>A; p.A100T; 1:68047000-68047000

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.298G>A; p.A100T; 1:68047000-68047000

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.435C>T; p.F145F; 1:68046863-68046863

 skinmalignant_melanomaSubstitution - coding silent

c.386C>T; p.A129V; 1:68046912-68046912

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.660G>A; p.E220E; 1:68046638-68046638

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.186C>T; p.F62F; 1:68047112-68047112

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.610A>G; p.T204A; 1:68046688-68046688

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.654C>T; p.T218T; 1:68046644-68046644

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.64G>A; p.A22T; 1:68047234-68047234

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.690A>G; p.*230W; 1:68046608-68046608

 stomachcarcinoma; adenocarcinomaNonstop extension

c.240C>A; p.C80*; 1:68047058-68047058

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.628G>T; p.E210*; 1:68046670-68046670

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.660G>T; p.E220D; 1:68046638-68046638

 breastcarcinomaSubstitution - Missense

c.207C>T; p.T69T; 1:68047091-68047091

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.330C>A; p.H110Q; 1:68046968-68046968

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.69G>A; p.L23L; 1:68047229-68047229

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.643A>G; p.M215V; 1:68046655-68046655

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.120C>T; p.V40V; 1:68047178-68047178

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.120C>T; p.V40V; 1:68047178-68047178

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.339C>T; p.V113V; 1:68046959-68046959

 breastcarcinomaSubstitution - coding silent

c.370C>T; p.L124L; 1:68046928-68046928

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.394G>A; p.E132K; 1:68046904-68046904

 skin; upper_armmalignant_melanomaSubstitution - Missense

c.628G>C; p.E210Q; 1:68046670-68046670

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.90G>T; p.K30N; 1:68047208-68047208

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.289G>A; p.G97S; 1:68047009-68047009

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.63C>T; p.P21P; 1:68047235-68047235

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.628G>A; p.E210K; 1:68046670-68046670

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; follicular_lymphomaSubstitution - Missense

c.628G>A; p.E210K; 1:68046670-68046670

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.664C>G; p.L222V; 1:68046634-68046634

 ovaryother; neoplasmSubstitution - Missense

c.308G>A; p.R103H; 1:68046990-68046990

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.545C>T; p.A182V; 1:68046753-68046753

 livercarcinomaSubstitution - Missense

c.545C>T; p.A182V; 1:68046753-68046753

 livercarcinomaSubstitution - Missense

c.279G>A; p.K93K; 1:68047019-68047019

 skinmalignant_melanomaSubstitution - coding silent

c.529T>G; p.F177V; 1:68046769-68046769

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.204G>A; p.P68P; 1:68047094-68047094

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.116G>A; p.R39H; 1:68047182-68047182

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

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