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

Basic Information

Gene ID

11186

Name

RASSF1

Synonymous

Ras association (RalGDS/AF-6) domain family member 1;RASSF1;Ras association (RalGDS/AF-6) domain family member 1

Definition

WUGSC:H_LUCA12.5|cardiac-specific ras association domain family 1 protein|pancreas-specific ras association domain family 1 protein|ras association domain-containing protein 1|tumor suppressor protein RDA32

Position

3p21.3

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

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

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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

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.526C>T; p.R176C; 3:50331805-50331805

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.324C>T; p.P108P; 3:50337950-50337950

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.373G>A; p.E125K; 3:50332151-50332151

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.668G>A; p.R223H; 3:50331663-50331663

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.272T>C; p.F91S; 3:50338002-50338002

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.272T>C; p.F91S; 3:50338002-50338002

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.272T>C; p.F91S; 3:50338002-50338002

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.272T>C; p.F91S; 3:50338002-50338002

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.272T>C; p.F91S; 3:50338002-50338002

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.272T>C; p.F91S; 3:50338002-50338002

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.272T>C; p.F91S; 3:50338002-50338002

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.272T>C; p.F91S; 3:50338002-50338002

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.272T>C; p.F91S; 3:50338002-50338002

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.272T>C; p.F91S; 3:50338002-50338002

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.272T>C; p.F91S; 3:50338002-50338002

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.272T>C; p.F91S; 3:50338002-50338002

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.272T>C; p.F91S; 3:50338002-50338002

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.272T>C; p.F91S; 3:50338002-50338002

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.272T>C; p.F91S; 3:50338002-50338002

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.272T>C; p.F91S; 3:50338002-50338002

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.272T>C; p.F91S; 3:50338002-50338002

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.475-1G>C; p.?; 3:50331857-50331857

 lung; right_upper_lobecarcinoma; adenocarcinomaUnknown

c.1023C>T; p.C341C; 3:50330593-50330593

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.751C>T; p.R251C; 3:50331580-50331580

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.460C>T; p.L154F; 3:50332064-50332064

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.961C>T; p.R321C; 3:50330655-50330655

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.680G>A; p.R227H; 3:50331651-50331651

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.679C>T; p.R227C; 3:50331652-50331652

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.941G>A; p.R314Q; 3:50330675-50330675

 thyroidcarcinomaSubstitution - Missense

c.808C>T; p.L270L; 3:50331414-50331414

 bone; femurEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.437A>G; p.Y146C; 3:50332087-50332087

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.931A>T; p.I311F; 3:50330685-50330685

 livercarcinomaSubstitution - Missense

c.667C>T; p.R223C; 3:50331664-50331664

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.992G>A; p.R331H; 3:50330624-50330624

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.274A>C; p.T92P; 3:50338000-50338000

 thyroidother; neoplasmSubstitution - Missense

c.274A>C; p.T92P; 3:50338000-50338000

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.274A>C; p.T92P; 3:50338000-50338000

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.274A>C; p.T92P; 3:50338000-50338000

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.274A>C; p.T92P; 3:50338000-50338000

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.274A>C; p.T92P; 3:50338000-50338000

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.274A>C; p.T92P; 3:50338000-50338000

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.274A>C; p.T92P; 3:50338000-50338000

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.274A>C; p.T92P; 3:50338000-50338000

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.274A>C; p.T92P; 3:50338000-50338000

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.274A>C; p.T92P; 3:50338000-50338000

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.274A>C; p.T92P; 3:50338000-50338000

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.274A>C; p.T92P; 3:50338000-50338000

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.274A>C; p.T92P; 3:50338000-50338000

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.274A>C; p.T92P; 3:50338000-50338000

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.274A>C; p.T92P; 3:50338000-50338000

 thyroidother; neoplasmSubstitution - Missense

c.274A>C; p.T92P; 3:50338000-50338000

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.274A>C; p.T92P; 3:50338000-50338000

 livercarcinomaSubstitution - Missense

c.274A>C; p.T92P; 3:50338000-50338000

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.274A>C; p.T92P; 3:50338000-50338000

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.274A>C; p.T92P; 3:50338000-50338000

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.274A>C; p.T92P; 3:50338000-50338000

 thyroidother; neoplasmSubstitution - Missense

c.274A>C; p.T92P; 3:50338000-50338000

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.274A>C; p.T92P; 3:50338000-50338000

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.274A>C; p.T92P; 3:50338000-50338000

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.274A>C; p.T92P; 3:50338000-50338000

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.274A>C; p.T92P; 3:50338000-50338000

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.990C>T; p.C330C; 3:50330626-50330626

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.427A>C; p.I143L; 3:50332097-50332097

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.652C>A; p.L218M; 3:50331679-50331679

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.541C>T; p.P181S; 3:50331790-50331790

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.409G>T; p.A137S; 3:50332115-50332115

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1027delC; p.*345fs?; 3:50330589-50330589

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.564C>T; p.S188S; 3:50331767-50331767

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.731G>A; p.R244H; 3:50331600-50331600

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.709T>C; p.F237L; 3:50331622-50331622

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.969C>T; p.I323I; 3:50330647-50330647

 skinmalignant_melanomaSubstitution - coding silent

c.1012C>A; p.L338M; 3:50330604-50330604

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.811C>A; p.R271R; 3:50331411-50331411

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.475-1G>A; p.?; 3:50331857-50331857

 skinmalignant_melanomaUnknown

c.715G>A; p.V239M; 3:50331616-50331616

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.52C>A; p.R18S; 3:50340754-50340754

 livercarcinomaSubstitution - Missense

c.52C>A; p.R18S; 3:50340754-50340754

 livercarcinomaSubstitution - Missense

c.466A>G; p.M156V; 3:50332058-50332058

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.811C>T; p.R271W; 3:50331411-50331411

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.753C>T; p.R251R; 3:50331578-50331578

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.753C>T; p.R251R; 3:50331578-50331578

 breastcarcinomaSubstitution - coding silent

c.387G>T; p.W129C; 3:50332137-50332137

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.813G>A; p.R271R; 3:50331409-50331409

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.928C>T; p.R310C; 3:50330688-50330688

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.928C>T; p.R310C; 3:50330688-50330688

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.43C>T; p.P15S; 3:50340763-50340763

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.900C>T; p.F300F; 3:50330716-50330716

 skinmalignant_melanomaSubstitution - coding silent

c.278G>A; p.C93Y; 3:50337996-50337996

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.613C>T; p.R205C; 3:50331718-50331718

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.658G>A; p.V220M; 3:50331673-50331673

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

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