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

Basic Information

Gene ID

7422

Name

VEGFA

Synonymous

vascular endothelial growth factor A;VEGFA;vascular endothelial growth factor A

Definition

vascular permeability factor

Position

6p12

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 0.08.

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.973C>T; p.R325*; 6:43780742-43780742

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.973C>T; p.R325*; 6:43780742-43780742

 prostatecarcinomaSubstitution - Nonsense

c.217G>A; p.E73K; 6:43770923-43770923

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.785G>T; p.R262L; 6:43777595-43777595

 lung; middle_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.83C>G; p.A28G; 6:43770789-43770789

 thyroidother; neoplasmSubstitution - Missense

c.962+5G>A; p.?; 6:43778923-43778923

 livercarcinomaUnknown

c.962+5G>A; p.?; 6:43778923-43778923

 livercarcinomaUnknown

c.256G>T; p.G86C; 6:43770962-43770962

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1021A>G; p.K341E; 6:43780790-43780790

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.6_7insGA; p.D3fs*51; 6:43770712-43770713

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1175G>A; p.R392H; 6:43782045-43782045

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.705C>T; p.I235I; 6:43777515-43777515

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1172C>T; p.S391L; 6:43782042-43782042

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.682C>T; p.Q228*; 6:43777492-43777492

 skinmalignant_melanomaSubstitution - Nonsense

c.1172C>T; p.S391L; 6:43782042-43782042

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.228G>A; p.P76P; 6:43770934-43770934

 biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - coding silent

c.1136C>T; p.P379L; 6:43782006-43782006

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1136C>T; p.P379L; 6:43782006-43782006

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1198T>C; p.L400L; 6:43782068-43782068

 NSmalignant_melanomaSubstitution - coding silent

c.1198T>C; p.L400L; 6:43782068-43782068

 NSmalignant_melanomaSubstitution - coding silent

c.128A>T; p.E43V; 6:43770834-43770834

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1236G>A; p.R412R; 6:43784559-43784559

 skinmalignant_melanomaSubstitution - coding silent

c.794G>A; p.G265D; 6:43777604-43777604

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.875A>G; p.H292R; 6:43778479-43778479

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.792G>A; p.G264G; 6:43777602-43777602

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1085+1G>A; p.?; 6:43780855-43780855

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.1185G>A; p.A395A; 6:43782055-43782055

 breastcarcinoma; HER-positive_carcinomaSubstitution - coding silent

c.1133A>G; p.D378G; 6:43782003-43782003

 skinmalignant_melanomaSubstitution - Missense

c.545A>C; p.N182T; 6:43771251-43771251

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.798C>T; p.C266C; 6:43777608-43777608

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.874C>T; p.H292Y; 6:43778478-43778478

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.737C>T; p.P246L; 6:43777547-43777547

 skinmalignant_melanomaSubstitution - Missense

c.1013_1014CC>TT; p.S338F; 6:43780782-43780783

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.872C>T; p.P291L; 6:43778476-43778476

 skinmalignant_melanomaSubstitution - Missense

c.426C>T; p.A142A; 6:43771132-43771132

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.535G>A; p.E179K; 6:43771241-43771241

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.535G>A; p.E179K; 6:43771241-43771241

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.632A>G; p.E211G; 6:43774366-43774366

 thyroidcarcinomaSubstitution - Missense

c.789C>T; p.C263C; 6:43777599-43777599

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.727C>T; p.Q243*; 6:43777537-43777537

 skinmalignant_melanomaSubstitution - Nonsense

c.963-3C>T; p.?; 6:43780729-43780729

 pancreascarcinomaUnknown

c.64C>T; p.R22W; 6:43770770-43770770

 thyroidother; neoplasmSubstitution - Missense

c.1174C>T; p.R392C; 6:43782044-43782044

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.732G>A; p.E244E; 6:43777542-43777542

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1109G>A; p.R370Q; 6:43781979-43781979

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1087C>T; p.P363S; 6:43781957-43781957

 skinmalignant_melanomaSubstitution - Missense

c.589T>G; p.Y197D; 6:43771295-43771295

 pancreascarcinomaSubstitution - Missense

c.1016G>T; p.R339L; 6:43780785-43780785

 livercarcinomaSubstitution - Missense

c.630A>G; p.A210A; 6:43774364-43774364

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

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