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

Basic Information

Gene ID

83937

Name

RASSF4

Synonymous

Ras association (RalGDS/AF-6) domain family member 4;RASSF4;Ras association (RalGDS/AF-6) domain family member 4

Definition

Ras association (RalGDS/AF-6) domain family 4|Ras association domain family 4|ras association domain-containing protein 4|tumor suppressor RASSF4

Position

10q11.21

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 0.12.

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.233T>C; p.V78A; 10:44982615-44982615

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.927G>A; p.T309T; 10:44993290-44993290

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.317C>T; p.A106V; 10:44984057-44984057

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.441C>G; p.S147R; 10:44984880-44984880

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.474G>T; p.E158D; 10:44984913-44984913

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.708C>T; p.C236C; 10:44990970-44990970

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.744A>G; p.P248P; 10:44991006-44991006

 stomachadenocarcinomaSubstitution - coding silent

c.65C>T; p.S22L; 10:44971775-44971775

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.210G>T; p.Q70H; 10:44982592-44982592

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.133C>A; p.R45S; 10:44971843-44971843

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.633G>A; p.R211R; 10:44989375-44989375

 skinmalignant_melanomaSubstitution - coding silent

c.919C>T; p.R307C; 10:44993282-44993282

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.898A>T; p.T300S; 10:44991995-44991995

 breastcarcinomaSubstitution - Missense

c.484A>G; p.I162V; 10:44984923-44984923

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.255G>A; p.W85*; 10:44982637-44982637

 breastcarcinomaSubstitution - Nonsense

c.906-1G>A; p.?; 10:44993268-44993268

 NSmalignant_melanomaUnknown

c.699A>G; p.L233L; 10:44990961-44990961

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.506T>C; p.I169T; 10:44984945-44984945

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.688C>T; p.R230W; 10:44990950-44990950

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.482G>A; p.R161H; 10:44984921-44984921

 thyroidother; neoplasmSubstitution - Missense

c.229C>T; p.Q77*; 10:44982611-44982611

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.229C>T; p.Q77*; 10:44982611-44982611

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Nonsense

c.229C>T; p.Q77*; 10:44982611-44982611

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.897G>A; p.L299L; 10:44991994-44991994

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.266G>A; p.R89Q; 10:44982648-44982648

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.304G>A; p.G102R; 10:44984044-44984044

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.142G>A; p.E48K; 10:44982524-44982524

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.303C>T; p.N101N; 10:44984043-44984043

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - coding silent

c.303C>T; p.N101N; 10:44984043-44984043

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.707G>T; p.C236F; 10:44990969-44990969

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.742C>A; p.P248T; 10:44991004-44991004

 prostatecarcinomaSubstitution - Missense

c.267G>A; p.R89R; 10:44982649-44982649

 skinmalignant_melanomaSubstitution - coding silent

c.902T>C; p.M301T; 10:44991999-44991999

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.262A>G; p.R88G; 10:44982644-44982644

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.262A>G; p.R88G; 10:44982644-44982644

 thyroidother; neoplasmSubstitution - Missense

c.251C>T; p.S84L; 10:44982633-44982633

 skin; extremitymalignant_melanomaSubstitution - Missense

c.561C>T; p.S187S; 10:44989303-44989303

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.913G>T; p.A305S; 10:44993276-44993276

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.888A>G; p.I296M; 10:44991985-44991985

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.658G>A; p.A220T; 10:44989694-44989694

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.512G>A; p.G171D; 10:44984951-44984951

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.868G>A; p.E290K; 10:44991965-44991965

 skinmalignant_melanomaSubstitution - Missense

c.680C>G; p.S227C; 10:44989716-44989716

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.829G>A; p.E277K; 10:44991926-44991926

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.376C>T; p.P126S; 10:44984815-44984815

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.265C>T; p.R89W; 10:44982647-44982647

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.538G>A; p.V180M; 10:44989280-44989280

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.285G>A; p.K95K; 10:44984025-44984025

 skinmalignant_melanomaSubstitution - coding silent

c.398delC; p.Q135fs*2; 10:44984837-44984837

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.193C>T; p.R65W; 10:44982575-44982575

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.352G>A; p.E118K; 10:44984092-44984092

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.675C>T; p.H225H; 10:44989711-44989711

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.536C>T; p.S179F; 10:44989278-44989278

 skinmalignant_melanomaSubstitution - Missense

c.757G>A; p.A253T; 10:44991019-44991019

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.757G>A; p.A253T; 10:44991019-44991019

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.669C>T; p.I223I; 10:44989705-44989705

 skinmalignant_melanomaSubstitution - coding silent

c.183G>A; p.W61*; 10:44982565-44982565

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.392A>C; p.E131A; 10:44984831-44984831

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.427G>A; p.A143T; 10:44984866-44984866

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.427G>A; p.A143T; 10:44984866-44984866

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.427G>A; p.A143T; 10:44984866-44984866

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.427G>A; p.A143T; 10:44984866-44984866

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.294G>A; p.S98S; 10:44984034-44984034

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.294G>A; p.S98S; 10:44984034-44984034

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.470G>A; p.G157D; 10:44984909-44984909

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.294G>A; p.S98S; 10:44984034-44984034

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.139G>A; p.E47K; 10:44982521-44982521

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.844G>A; p.D282N; 10:44991941-44991941

 skinmalignant_melanomaSubstitution - Missense

c.883G>T; p.E295*; 10:44991980-44991980

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.652G>T; p.E218*; 10:44989688-44989688

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.842T>C; p.L281P; 10:44991939-44991939

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.679T>A; p.S227T; 10:44989715-44989715

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.123G>T; p.Q41H; 10:44971833-44971833

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.222C>T; p.D74D; 10:44982604-44982604

 breastcarcinomaSubstitution - coding silent

c.371C>T; p.S124L; 10:44984111-44984111

 skinmalignant_melanomaSubstitution - Missense

c.293C>G; p.S98W; 10:44984033-44984033

 thyroidother; neoplasmSubstitution - Missense

c.481C>T; p.R161C; 10:44984920-44984920

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.91T>C; p.Y31H; 10:44971801-44971801

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.159C>T; p.I53I; 10:44982541-44982541

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.159C>T; p.I53I; 10:44982541-44982541

 skinmalignant_melanomaSubstitution - coding silent

c.412C>T; p.R138W; 10:44984851-44984851

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

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