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

Basic Information

Gene ID

1946

Name

EFNA5

Synonymous

ephrin-A5;EFNA5;ephrin-A5

Definition

AL-1|LERK-7|eph-related receptor tyrosine kinase ligand 7

Position

5q21

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 0.19.

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.587C>T; p.A196V; 5:107381355-107381355

 skinmalignant_melanomaSubstitution - Missense

c.517C>T; p.R173C; 5:107387283-107387283

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.517C>T; p.R173C; 5:107387283-107387283

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.367C>T; p.P123S; 5:107427268-107427268

 skinmalignant_melanomaSubstitution - Missense

c.95A>T; p.Y32F; 5:107670519-107670519

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.57C>T; p.F19F; 5:107670557-107670557

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.57C>T; p.F19F; 5:107670557-107670557

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.588C>T; p.A196A; 5:107381354-107381354

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.247A>G; p.N83D; 5:107427388-107427388

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.468C>A; p.V156V; 5:107387722-107387722

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.644T>C; p.L215S; 5:107381298-107381298

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.354C>T; p.F118F; 5:107427281-107427281

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.286G>T; p.G96W; 5:107427349-107427349

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.431C>T; p.P144L; 5:107387759-107387759

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.12G>A; p.V4V; 5:107670602-107670602

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.271G>A; p.D91N; 5:107427364-107427364

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.462C>G; p.L154L; 5:107387728-107387728

 skinmalignant_melanomaSubstitution - coding silent

c.574G>A; p.V192I; 5:107381368-107381368

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.574G>A; p.V192I; 5:107381368-107381368

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.622C>T; p.P208S; 5:107381320-107381320

 skinmalignant_melanomaSubstitution - Missense

c.110A>G; p.N37S; 5:107670504-107670504

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.525C>T; p.F175F; 5:107387275-107387275

 breastcarcinomaSubstitution - coding silent

c.687G>A; p.*229*; 5:107381255-107381255

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.208C>T; p.P70S; 5:107427427-107427427

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.342C>A; p.F114L; 5:107427293-107427293

 livercarcinomaSubstitution - Missense

c.342C>A; p.F114L; 5:107427293-107427293

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.638G>A; p.R213H; 5:107381304-107381304

 livercarcinomaSubstitution - Missense

c.320C>T; p.S107F; 5:107427315-107427315

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.680C>T; p.T227I; 5:107381262-107381262

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.355C>T; p.Q119*; 5:107427280-107427280

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.278C>G; p.T93S; 5:107427357-107427357

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.533A>G; p.N178S; 5:107387267-107387267

 breastcarcinomaSubstitution - Missense

c.227G>A; p.R76H; 5:107427408-107427408

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.436A>G; p.N146D; 5:107387754-107387754

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.474G>T; p.V158V; 5:107387716-107387716

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.310C>T; p.R104W; 5:107427325-107427325

 skinmalignant_melanomaSubstitution - Missense

c.244G>A; p.V82M; 5:107427391-107427391

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.508G>A; p.V170I; 5:107387292-107387292

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.514G>T; p.D172Y; 5:107387286-107387286

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.334C>T; p.L112L; 5:107427301-107427301

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.322C>T; p.P108S; 5:107427313-107427313

 kidneyother; neoplasmSubstitution - Missense

c.191A>G; p.H64R; 5:107427444-107427444

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.400C>T; p.R134*; 5:107427235-107427235

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.374C>T; p.S125F; 5:107427261-107427261

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.400C>T; p.R134*; 5:107427235-107427235

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.668C>T; p.A223V; 5:107381274-107381274

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.300G>A; p.W100*; 5:107427335-107427335

 livercarcinomaSubstitution - Nonsense

c.300G>A; p.W100*; 5:107427335-107427335

 livercarcinomaSubstitution - Nonsense

c.60C>T; p.S20S; 5:107670554-107670554

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.596C>T; p.S199F; 5:107381346-107381346

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.60C>T; p.S20S; 5:107670554-107670554

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.15G>T; p.E5D; 5:107670599-107670599

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

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