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

Basic Information

Gene ID

9770

Name

RASSF2

Synonymous

Ras association (RalGDS/AF-6) domain family member 2;RASSF2;Ras association (RalGDS/AF-6) domain family member 2

Definition

Ras association (RalGDS/AF-6) domain family 2|centromere protein 34|ras association domain-containing protein 2

Position

20p13

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 0.16.

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.933G>A; p.M311I; 20:4784321-4784321

 skinmalignant_melanomaSubstitution - Missense

c.241C>G; p.P81A; 20:4795861-4795861

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.580C>G; p.R194G; 20:4789655-4789655

 skinmalignant_melanomaSubstitution - Missense

c.862C>G; p.Q288E; 20:4786280-4786280

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.154G>T; p.V52L; 20:4795948-4795948

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.579C>A; p.V193V; 20:4789656-4789656

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.692-1G>C; p.?; 20:4787755-4787755

 breastcarcinomaUnknown

c.227G>A; p.R76H; 20:4795875-4795875

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.576C>T; p.N192N; 20:4789659-4789659

 livercarcinomaSubstitution - coding silent

c.576C>T; p.N192N; 20:4789659-4789659

 livercarcinomaSubstitution - coding silent

c.519C>T; p.G173G; 20:4790469-4790469

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.576C>T; p.N192N; 20:4789659-4789659

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.227G>A; p.R76H; 20:4795875-4795875

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.356A>G; p.D119G; 20:4792559-4792559

 pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.356A>G; p.D119G; 20:4792559-4792559

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.452G>A; p.R151H; 20:4790536-4790536

 livercarcinomaSubstitution - Missense

c.232C>T; p.R78*; 20:4795870-4795870

 skinmalignant_melanomaSubstitution - Nonsense

c.232C>T; p.R78*; 20:4795870-4795870

 pancreascarcinomaSubstitution - Nonsense

c.232C>T; p.R78*; 20:4795870-4795870

 pancreascarcinomaSubstitution - Nonsense

c.452G>A; p.R151H; 20:4790536-4790536

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.232C>T; p.R78*; 20:4795870-4795870

 pancreascarcinoma; ductal_carcinomaSubstitution - Nonsense

c.232C>T; p.R78*; 20:4795870-4795870

 livercarcinomaSubstitution - Nonsense

c.232C>T; p.R78*; 20:4795870-4795870

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.452G>A; p.R151H; 20:4790536-4790536

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.452G>A; p.R151H; 20:4790536-4790536

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.673G>A; p.V225M; 20:4788235-4788235

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.673G>A; p.V225M; 20:4788235-4788235

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.78T>A; p.H26Q; 20:4798067-4798067

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.743_744AG>CA; p.Q248P; 20:4787702-4787703

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.635T>G; p.F212C; 20:4789600-4789600

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.684G>A; p.T228T; 20:4788224-4788224

 skinmalignant_melanomaSubstitution - coding silent

c.424C>T; p.R142C; 20:4790564-4790564

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.787G>A; p.D263N; 20:4787659-4787659

 skin; neckmalignant_melanomaSubstitution - Missense

c.99C>T; p.Y33Y; 20:4798046-4798046

 skinmalignant_melanomaSubstitution - coding silent

c.560A>T; p.Y187F; 20:4789675-4789675

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.277G>A; p.G93R; 20:4795825-4795825

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.560A>T; p.Y187F; 20:4789675-4789675

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.772T>C; p.F258L; 20:4787674-4787674

 skinmalignant_melanomaSubstitution - Missense

c.237C>A; p.P79P; 20:4795865-4795865

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.938G>A; p.R313Q; 20:4784316-4784316

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.653C>A; p.A218E; 20:4788255-4788255

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.938G>A; p.R313Q; 20:4784316-4784316

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.938G>A; p.R313Q; 20:4784316-4784316

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.672C>T; p.Y224Y; 20:4788236-4788236

 thyroidcarcinomaSubstitution - coding silent

c.248C>T; p.S83F; 20:4795854-4795854

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.908G>A; p.R303H; 20:4786234-4786234

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.952G>T; p.E318*; 20:4784302-4784302

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.176C>A; p.S59Y; 20:4795926-4795926

 kidneyother; neoplasmSubstitution - Missense

c.811G>A; p.D271N; 20:4787635-4787635

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.604C>T; p.P202S; 20:4789631-4789631

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.136-1G>A; p.?; 20:4795967-4795967

 skin; facecarcinoma; squamous_cell_carcinomaUnknown

c.497G>A; p.R166H; 20:4790491-4790491

 breastcarcinomaSubstitution - Missense

c.286G>A; p.G96R; 20:4795816-4795816

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.286G>A; p.G96R; 20:4795816-4795816

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.464T>C; p.V155A; 20:4790524-4790524

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.715G>A; p.D239N; 20:4787731-4787731

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.348G>A; p.P116P; 20:4792567-4792567

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.210G>T; p.M70I; 20:4795892-4795892

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.916A>G; p.T306A; 20:4784338-4784338

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.187C>T; p.R63C; 20:4795915-4795915

 thyroidcarcinomaSubstitution - Missense

c.136-4G>A; p.?; 20:4795970-4795970

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaUnknown

c.937C>T; p.R313*; 20:4784317-4784317

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.699G>A; p.Q233Q; 20:4787747-4787747

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.525C>G; p.F175L; 20:4790463-4790463

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.470C>T; p.T157M; 20:4790518-4790518

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.226C>T; p.R76C; 20:4795876-4795876

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.739C>T; p.L247F; 20:4787707-4787707

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.398T>C; p.L133P; 20:4790590-4790590

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.496C>T; p.R166C; 20:4790492-4790492

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.213G>A; p.Q71Q; 20:4795889-4795889

 livercarcinomaSubstitution - coding silent

c.213G>A; p.Q71Q; 20:4795889-4795889

 livercarcinomaSubstitution - coding silent

c.492C>G; p.I164M; 20:4790496-4790496

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.734G>A; p.R245Q; 20:4787712-4787712

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.223G>A; p.E75K; 20:4795879-4795879

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.131G>A; p.R44Q; 20:4798014-4798014

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.834C>T; p.F278F; 20:4786308-4786308

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.516C>T; p.N172N; 20:4790472-4790472

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.834C>T; p.F278F; 20:4786308-4786308

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.834C>T; p.F278F; 20:4786308-4786308

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.834C>T; p.F278F; 20:4786308-4786308

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.834C>T; p.F278F; 20:4786308-4786308

 livercarcinomaSubstitution - coding silent

c.144C>T; p.D48D; 20:4795958-4795958

 breastcarcinomaSubstitution - coding silent

c.733C>T; p.R245*; 20:4787713-4787713

 ovarycarcinoma; serous_carcinomaSubstitution - Nonsense

c.183C>A; p.G61G; 20:4795919-4795919

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.252C>T; p.S84S; 20:4795850-4795850

 skin; armmalignant_melanomaSubstitution - coding silent

c.317A>C; p.K106T; 20:4792598-4792598

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.862C>T; p.Q288*; 20:4786280-4786280

 skinmalignant_melanomaSubstitution - Nonsense

c.239delC; p.P80fs*20; 20:4795863-4795863

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.810C>T; p.Y270Y; 20:4787636-4787636

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.222C>T; p.N74N; 20:4795880-4795880

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.222C>T; p.N74N; 20:4795880-4795880

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.156G>T; p.V52V; 20:4795946-4795946

 ovaryother; neoplasmSubstitution - coding silent

c.107G>A; p.G36D; 20:4798038-4798038

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.448C>T; p.R150C; 20:4790540-4790540

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.448C>T; p.R150C; 20:4790540-4790540

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.707delA; p.K236fs*7; 20:4787739-4787739

 endometriumcarcinoma; endometrioid_carcinomaDeletion - Frameshift

c.714C>T; p.T238T; 20:4787732-4787732

 pancreascarcinoma; adenocarcinomaSubstitution - coding silent

c.849T>C; p.L283L; 20:4786293-4786293

 prostatecarcinomaSubstitution - coding silent

c.431G>A; p.R144H; 20:4790557-4790557

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.249C>T; p.S83S; 20:4795853-4795853

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.632A>C; p.K211T; 20:4789603-4789603

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.518G>T; p.G173V; 20:4790470-4790470

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.207G>T; p.Q69H; 20:4795895-4795895

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.376G>T; p.D126Y; 20:4792539-4792539

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.693G>T; p.E231D; 20:4787753-4787753

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.507C>T; p.F169F; 20:4790481-4790481

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.507C>T; p.F169F; 20:4790481-4790481

 skinmalignant_melanomaSubstitution - coding silent

c.425G>A; p.R142H; 20:4790563-4790563

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.344C>T; p.P115L; 20:4792571-4792571

 pancreascarcinomaSubstitution - Missense

c.194C>A; p.P65H; 20:4795908-4795908

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.449G>A; p.R150H; 20:4790539-4790539

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.722C>G; p.P241R; 20:4787724-4787724

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.20C>T; p.T7M; 20:4801011-4801011

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.188G>A; p.R63H; 20:4795914-4795914

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.188G>A; p.R63H; 20:4795914-4795914

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.455G>A; p.R152H; 20:4790533-4790533

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.324G>T; p.Q108H; 20:4792591-4792591

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.581G>A; p.R194H; 20:4789654-4789654

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.538-3C>A; p.?; 20:4789700-4789700

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.351G>A; p.E117E; 20:4792564-4792564

 breastcarcinomaSubstitution - coding silent

c.119A>T; p.Q40L; 20:4798026-4798026

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.581G>T; p.R194L; 20:4789654-4789654

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.692-1G>A; p.?; 20:4787755-4787755

 skinmalignant_melanomaUnknown

c.581G>T; p.R194L; 20:4789654-4789654

 lung; left_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

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