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

Basic Information

Gene ID

60401

Name

EDA2R

Synonymous

ectodysplasin A2 receptor;EDA2R;ectodysplasin A2 receptor

Definition

EDA-A2 receptor|X-linked ectodysplasin-A2 receptor|tumor necrosis factor receptor superfamily member 27|tumor necrosis factor receptor superfamily member XEDAR

Position

Xq12

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 0.08.

The copy number variations for various cancers

Top

There is no record for EDA2R

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.528G>T; p.L176L; 23:66599850-66599850

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.168C>A; p.H56Q; 23:66605146-66605146

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.746A>T; p.H249L; 23:66599632-66599632

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.275G>A; p.R92Q; 23:66604498-66604498

 skinmalignant_melanomaSubstitution - Missense

c.838G>A; p.E280K; 23:66599540-66599540

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.838G>A; p.E280K; 23:66599540-66599540

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.187A>T; p.T63S; 23:66605127-66605127

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.229G>A; p.A77T; 23:66605085-66605085

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.771G>A; p.L257L; 23:66599607-66599607

 breastcarcinomaSubstitution - coding silent

c.431G>A; p.S144N; 23:66602719-66602719

 breastcarcinomaSubstitution - Missense

c.208G>T; p.V70F; 23:66605106-66605106

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.573C>T; p.P191P; 23:66599805-66599805

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - coding silent

c.213G>C; p.Q71H; 23:66605101-66605101

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.717C>T; p.C239C; 23:66599661-66599661

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.13G>T; p.E5*; 23:66616008-66616008

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.12A>C; p.Q4H; 23:66616009-66616009

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.284G>A; p.R95H; 23:66604489-66604489

 pancreascarcinomaSubstitution - Missense

c.137C>T; p.P46L; 23:66605177-66605177

 skinmalignant_melanomaSubstitution - Missense

c.714C>T; p.S238S; 23:66599664-66599664

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.173G>T; p.C58F; 23:66605141-66605141

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.87+2T>C; p.?; 23:66615932-66615932

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.413C>T; p.T138I; 23:66602737-66602737

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.563C>T; p.S188F; 23:66599815-66599815

 skinmalignant_melanomaSubstitution - Missense

c.324G>A; p.T108T; 23:66604449-66604449

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.23A>G; p.Y8C; 23:66615998-66615998

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.706A>G; p.M236V; 23:66599672-66599672

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.614G>A; p.S205N; 23:66599764-66599764

 skin; extremitymalignant_melanomaSubstitution - Missense

c.40C>T; p.R14W; 23:66615981-66615981

 peritoneum; appendixother; pseudomyxoma_peritoneiSubstitution - Missense

c.261G>T; p.L87F; 23:66605053-66605053

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.252G>A; p.G84G; 23:66605062-66605062

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.252G>A; p.G84G; 23:66605062-66605062

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.495C>G; p.F165L; 23:66602655-66602655

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.556G>A; p.E186K; 23:66599822-66599822

 meningesmeningiomaSubstitution - Missense

c.570C>A; p.F190L; 23:66599808-66599808

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.250G>A; p.G84R; 23:66605064-66605064

 skinmalignant_melanomaSubstitution - Missense

c.722C>T; p.S241L; 23:66599656-66599656

 breastcarcinomaSubstitution - Missense

c.19G>C; p.E7Q; 23:66616002-66616002

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.19G>C; p.E7Q; 23:66616002-66616002

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.96T>G; p.G32G; 23:66605218-66605218

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.264C>T; p.P88P; 23:66605050-66605050

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.757G>A; p.E253K; 23:66599621-66599621

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.380C>T; p.A127V; 23:66602770-66602770

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.294C>T; p.G98G; 23:66604479-66604479

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.879A>G; p.E293E; 23:66599499-66599499

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.771G>T; p.L257L; 23:66599607-66599607

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.306A>G; p.Q102Q; 23:66604467-66604467

 breastcarcinomaSubstitution - coding silent

c.25T>C; p.W9R; 23:66615996-66615996

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.327G>T; p.K109N; 23:66604446-66604446

 soft_tissue; blood_vesselangiosarcomaSubstitution - Missense

c.475T>G; p.F159V; 23:66602675-66602675

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.335C>A; p.P112H; 23:66604438-66604438

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.684C>T; p.F228F; 23:66599694-66599694

 breastcarcinomaSubstitution - coding silent

c.496T>G; p.F166V; 23:66602654-66602654

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.121T>C; p.C41R; 23:66605193-66605193

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.7T>G; p.C3G; 23:66616014-66616014

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; non_functioningSubstitution - Missense

c.205C>G; p.R69G; 23:66605109-66605109

 breastcarcinomaSubstitution - Missense

c.709G>A; p.A237T; 23:66599669-66599669

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.345G>A; p.E115E; 23:66604428-66604428

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.671C>G; p.S224W; 23:66599707-66599707

 breastcarcinomaSubstitution - Missense

c.274C>T; p.R92*; 23:66604499-66604499

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.122G>T; p.C41F; 23:66605192-66605192

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.219C>G; p.V73V; 23:66605095-66605095

 breastcarcinomaSubstitution - coding silent

c.816G>A; p.E272E; 23:66599562-66599562

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.78G>A; p.E26E; 23:66615943-66615943

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

')