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

Basic Information

Gene ID

83593

Name

RASSF5

Synonymous

Ras association (RalGDS/AF-6) domain family member 5;RASSF5;Ras association (RalGDS/AF-6) domain family member 5

Definition

Rap1-binding protein|Ras association (RalGDS/AF-6) domain family 5|Ras effector-like protein|new ras effector 1|novel Ras effector 1|ras association domain-containing protein 5|regulator for cell adhesion and polarization enriched in lymphoid tissue|tumor

Position

1q32.1

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

Top

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

Top

Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.10.

The copy number variations for various cancers

Top

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.1191G>C; p.K397N; 1:206586912-206586912

 breastcarcinomaSubstitution - Missense

c.660G>A; p.T220T; 1:206583349-206583349

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.520G>C; p.E174Q; 1:206538234-206538234

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.499C>T; p.Q167*; 1:206538213-206538213

 skinmalignant_melanomaSubstitution - Nonsense

c.499C>T; p.Q167*; 1:206538213-206538213

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.395G>A; p.G132D; 1:206507997-206507997

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.906C>T; p.I302I; 1:206584602-206584602

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.745C>T; p.P249S; 1:206584441-206584441

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.823G>A; p.D275N; 1:206584519-206584519

 skinmalignant_melanomaSubstitution - Missense

c.1122C>A; p.I374I; 1:206586843-206586843

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1105-1G>A; p.?; 1:206586825-206586825

 pancreascarcinoma; acinar_carcinomaUnknown

c.1234G>T; p.E412*; 1:206586955-206586955

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.756G>A; p.V252V; 1:206584452-206584452

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1234G>T; p.E412*; 1:206586955-206586955

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.48A>C; p.L16L; 1:206507650-206507650

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.48A>C; p.L16L; 1:206507650-206507650

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.48A>C; p.L16L; 1:206507650-206507650

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.48A>C; p.L16L; 1:206507650-206507650

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.48A>C; p.L16L; 1:206507650-206507650

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.48A>C; p.L16L; 1:206507650-206507650

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.48A>C; p.L16L; 1:206507650-206507650

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.48A>C; p.L16L; 1:206507650-206507650

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.48A>C; p.L16L; 1:206507650-206507650

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.48A>C; p.L16L; 1:206507650-206507650

 thyroidother; neoplasmSubstitution - coding silent

c.48A>C; p.L16L; 1:206507650-206507650

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.48A>C; p.L16L; 1:206507650-206507650

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.48A>C; p.L16L; 1:206507650-206507650

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.48A>C; p.L16L; 1:206507650-206507650

 thyroidother; neoplasmSubstitution - coding silent

c.48A>C; p.L16L; 1:206507650-206507650

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.109delC; p.D39fs*127; 1:206507711-206507711

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.838T>G; p.F280V; 1:206584534-206584534

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.487C>T; p.R163C; 1:206538201-206538201

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1036C>A; p.L346M; 1:206585227-206585227

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.857C>T; p.A286V; 1:206584553-206584553

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.756G>T; p.V252V; 1:206584452-206584452

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.150C>G; p.L50L; 1:206507752-206507752

 ovaryother; neoplasmSubstitution - coding silent

c.981C>G; p.D327E; 1:206584677-206584677

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.479C>T; p.P160L; 1:206538193-206538193

 skinmalignant_melanomaSubstitution - Missense

c.1033C>T; p.R345C; 1:206585224-206585224

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1131T>G; p.L377L; 1:206586852-206586852

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.959delT; p.F321fs*39; 1:206584655-206584655

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1221G>C; p.E407D; 1:206586942-206586942

 breastcarcinomaSubstitution - Missense

c.520G>A; p.E174K; 1:206538234-206538234

 skinmalignant_melanomaSubstitution - Missense

c.760G>C; p.A254P; 1:206584456-206584456

 breastcarcinomaSubstitution - Missense

c.482A>T; p.E161V; 1:206538196-206538196

 skinmalignant_melanomaSubstitution - Missense

c.565G>A; p.V189M; 1:206538279-206538279

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.146C>T; p.P49L; 1:206507748-206507748

 biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - Missense

c.743G>A; p.R248Q; 1:206584439-206584439

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.847C>A; p.P283T; 1:206584543-206584543

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.333G>A; p.Q111Q; 1:206507935-206507935

 skinmalignant_melanomaSubstitution - coding silent

c.564C>T; p.T188T; 1:206538278-206538278

 central_nervous_system; braingliomaSubstitution - coding silent

c.376G>T; p.A126S; 1:206507978-206507978

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.983G>A; p.G328E; 1:206584679-206584679

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.777G>A; p.Q259Q; 1:206584473-206584473

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.837C>A; p.S279S; 1:206584533-206584533

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1168G>A; p.D390N; 1:206586889-206586889

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.329C>T; p.P110L; 1:206507931-206507931

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.523G>C; p.G175R; 1:206538237-206538237

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.539G>A; p.R180K; 1:206538253-206538253

 skinmalignant_melanomaSubstitution - Missense

c.399delC; p.G135fs*31; 1:206508001-206508001

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.49T>C; p.L17L; 1:206507651-206507651

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.957A>G; p.A319A; 1:206584653-206584653

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.761C>T; p.A254V; 1:206584457-206584457

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.806A>G; p.N269S; 1:206584502-206584502

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.934G>A; p.V312M; 1:206584630-206584630

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.1108G>A; p.D370N; 1:206586829-206586829

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.711G>A; p.T237T; 1:206584407-206584407

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.739C>T; p.R247W; 1:206584435-206584435

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1069T>G; p.F357V; 1:206585260-206585260

 breastcarcinomaSubstitution - Missense

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