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

Basic Information

Gene ID

283349

Name

RASSF3

Synonymous

Ras association (RalGDS/AF-6) domain family member 3;RASSF3;Ras association (RalGDS/AF-6) domain family member 3

Definition

Ras association (RalGDS/AF-6) domain family 3|ras association domain-containing protein 3

Position

12q14.2

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.523A>G; p.T175A; 12:64691535-64691535

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.265C>G; p.L89V; 12:64688261-64688261

 prostatecarcinomaSubstitution - Missense

c.693C>T; p.L231L; 12:64694888-64694888

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.481C>T; p.R161W; 12:64691493-64691493

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.550G>C; p.E184Q; 12:64691562-64691562

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.102C>T; p.S34S; 12:64610734-64610734

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.603C>A; p.F201L; 12:64694798-64694798

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.646C>T; p.L216L; 12:64694841-64694841

 skinmalignant_melanomaSubstitution - coding silent

c.598A>G; p.N200D; 12:64694793-64694793

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.108A>G; p.Q36Q; 12:64610740-64610740

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.108A>G; p.Q36Q; 12:64610740-64610740

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.108A>G; p.Q36Q; 12:64610740-64610740

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.108A>G; p.Q36Q; 12:64610740-64610740

 thyroidother; neoplasmSubstitution - coding silent

c.108A>G; p.Q36Q; 12:64610740-64610740

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.108A>G; p.Q36Q; 12:64610740-64610740

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.108A>G; p.Q36Q; 12:64610740-64610740

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.108A>G; p.Q36Q; 12:64610740-64610740

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.69C>T; p.F23F; 12:64610701-64610701

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.431A>G; p.Y144C; 12:64688427-64688427

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.662C>A; p.T221K; 12:64694857-64694857

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.613T>C; p.L205L; 12:64694808-64694808

 skinmalignant_melanomaSubstitution - coding silent

c.86A>G; p.Q29R; 12:64610718-64610718

 skinmalignant_melanomaSubstitution - Missense

c.406G>A; p.E136K; 12:64688402-64688402

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.608G>A; p.R203H; 12:64694803-64694803

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.437G>A; p.R146H; 12:64688433-64688433

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.43_44TT>GA; p.F15>?; 12:64610675-64610676

 lungcarcinoma; adenocarcinomaComplex

c.267C>T; p.L89L; 12:64688263-64688263

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.462C>T; p.Y154Y; 12:64691474-64691474

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.220-9C>T; p.?; 12:64688207-64688207

 livercarcinomaUnknown

c.601T>G; p.F201V; 12:64694796-64694796

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.72C>T; p.F24F; 12:64610704-64610704

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.42_44delCTT; p.F17delF; 12:64610674-64610676

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.111+2T>C; p.?; 12:64610745-64610745

 lungcarcinoma; small_cell_carcinomaUnknown

c.567+8A>T; p.?; 12:64691587-64691587

 skin; armmalignant_melanomaUnknown

c.655C>T; p.R219C; 12:64694850-64694850

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.16A>G; p.S6G; 12:64610648-64610648

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.635A>G; p.Q212R; 12:64694830-64694830

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

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