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EDA (ectodysplasin A)

Identity

Other namesECTD1
ED1
ED1-A1
ED1-A2
EDA-A1
EDA-A2
EDA1
EDA2
HED
HED1
ODT1
STHAGX1
TNLG7C
XHED
XLHED
HGNC (Hugo) EDA
LocusID (NCBI) 1896
Atlas_Id 40402
Location Xq13.1  [Link to chromosome band Xq13]
Location_base_pair Starts at 68835911 and ends at 69259321 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
DOCK8 (9p24.3) / EDA (Xq13.1)EDA (Xq13.1) / DOCK8 (9p24.3)EDA (Xq13.1) / MID1 (Xp22.2)
SSBP3 (1p32.3) / EDA (Xq13.1)SSBP3 1p32.3 / EDA Xq13.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 0 ]
  Lung: Translocations in Adenocarcinoma

External links

Nomenclature
HGNC (Hugo)EDA   3157
Cards
Entrez_Gene (NCBI)EDA  1896  ectodysplasin A
AliasesECTD1; ED1; ED1-A1; ED1-A2; 
EDA-A1; EDA-A2; EDA1; EDA2; HED; HED1; ODT1; STHAGX1; TNLG7C; XHED; XLHED
GeneCards (Weizmann)EDA
Ensembl hg19 (Hinxton)ENSG00000158813 [Gene_View]  chrX:68835911-69259321 [Contig_View]  EDA [Vega]
Ensembl hg38 (Hinxton)ENSG00000158813 [Gene_View]  chrX:68835911-69259321 [Contig_View]  EDA [Vega]
ICGC DataPortalENSG00000158813
TCGA cBioPortalEDA
AceView (NCBI)EDA
Genatlas (Paris)EDA
WikiGenes1896
SOURCE (Princeton)EDA
Genomic and cartography
GoldenPath hg19 (UCSC)EDA  -     chrX:68835911-69259321 +  Xq13.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)EDA  -     Xq13.1   [Description]    (hg38-Dec_2013)
EnsemblEDA - Xq13.1 [CytoView hg19]  EDA - Xq13.1 [CytoView hg38]
Mapping of homologs : NCBIEDA [Mapview hg19]  EDA [Mapview hg38]
OMIM300451   305100   313500   
Gene and transcription
Genbank (Entrez)AF040628 AF060999 AF061189 AF061190 AF061191
RefSeq transcript (Entrez)NM_001005609 NM_001005610 NM_001005611 NM_001005612 NM_001005613 NM_001005614 NM_001399
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_009809 NT_011651 NW_004929443
Consensus coding sequences : CCDS (NCBI)EDA
Cluster EST : UnigeneHs.105407 [ NCBI ]
CGAP (NCI)Hs.105407
Alternative Splicing GalleryENSG00000158813
Gene ExpressionEDA [ NCBI-GEO ]   EDA [ EBI - ARRAY_EXPRESS ]   EDA [ SEEK ]   EDA [ MEM ]
Gene Expression Viewer (FireBrowse)EDA [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1896
GTEX Portal (Tissue expression)EDA
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92838 (Uniprot)
NextProtQ92838  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92838
Splice isoforms : SwissVarQ92838 (Swissvar)
PhosPhoSitePlusQ92838
Domaine pattern : Prosite (Expaxy)TNF_2 (PS50049)   
Domains : Interpro (EBI)TNF_dom    Tumour_necrosis_fac-like_dom   
Domain families : Pfam (Sanger)TNF (PF00229)   
Domain families : Pfam (NCBI)pfam00229   
Domain families : Smart (EMBL)TNF (SM00207)  
DMDM Disease mutations1896
Blocks (Seattle)EDA
PDB (SRS)1RJ7    1RJ8   
PDB (PDBSum)1RJ7    1RJ8   
PDB (IMB)1RJ7    1RJ8   
PDB (RSDB)1RJ7    1RJ8   
Structural Biology KnowledgeBase1RJ7    1RJ8   
SCOP (Structural Classification of Proteins)1RJ7    1RJ8   
CATH (Classification of proteins structures)1RJ7    1RJ8   
SuperfamilyQ92838
Human Protein AtlasENSG00000158813
Peptide AtlasQ92838
HPRD02347
IPIIPI00975907   IPI00216145   IPI00216147   IPI00216148   IPI00216149   IPI00216150   IPI00954278   IPI00216146   IPI00023765   IPI00967539   
Protein Interaction databases
DIP (DOE-UCLA)Q92838
IntAct (EBI)Q92838
FunCoupENSG00000158813
BioGRIDEDA
STRING (EMBL)EDA
ZODIACEDA
Ontologies - Pathways
QuickGOQ92838
Ontology : AmiGOreceptor binding  tumor necrosis factor receptor binding  protein binding  extracellular region  collagen trimer  endoplasmic reticulum membrane  cytoskeleton  plasma membrane  integral component of plasma membrane  immune response  cell-matrix adhesion  signal transduction  ectoderm development  gene expression  membrane  integral component of membrane  cell differentiation  tumor necrosis factor-mediated signaling pathway  positive regulation of NF-kappaB import into nucleus  odontogenesis of dentin-containing tooth  intracellular membrane-bounded organelle  pigmentation  apical part of cell  positive regulation of NF-kappaB transcription factor activity  salivary gland cavitation  hair follicle placode formation  trachea gland development  positive regulation of canonical Wnt signaling pathway  
Ontology : EGO-EBIreceptor binding  tumor necrosis factor receptor binding  protein binding  extracellular region  collagen trimer  endoplasmic reticulum membrane  cytoskeleton  plasma membrane  integral component of plasma membrane  immune response  cell-matrix adhesion  signal transduction  ectoderm development  gene expression  membrane  integral component of membrane  cell differentiation  tumor necrosis factor-mediated signaling pathway  positive regulation of NF-kappaB import into nucleus  odontogenesis of dentin-containing tooth  intracellular membrane-bounded organelle  pigmentation  apical part of cell  positive regulation of NF-kappaB transcription factor activity  salivary gland cavitation  hair follicle placode formation  trachea gland development  positive regulation of canonical Wnt signaling pathway  
Pathways : KEGGCytokine-cytokine receptor interaction   
NDEx Network
Atlas of Cancer Signalling NetworkEDA
Wikipedia pathwaysEDA
Orthology - Evolution
OrthoDB1896
GeneTree (enSembl)ENSG00000158813
Phylogenetic Trees/Animal Genes : TreeFamEDA
Homologs : HomoloGeneEDA
Homology/Alignments : Family Browser (UCSC)EDA
Gene fusions - Rearrangements
Fusion: TCGASSBP3 1p32.3 EDA Xq13.1 BLCA
Polymorphisms : SNP, variants
NCBI Variation ViewerEDA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EDA
dbVarEDA
ClinVarEDA
1000_GenomesEDA 
Exome Variant ServerEDA
ExAC (Exome Aggregation Consortium)EDA (select the gene name)
Genetic variants : HAPMAP1896
Genomic Variants (DGV)EDA [DGVbeta]
Mutations
ICGC Data PortalEDA 
TCGA Data PortalEDA 
Broad Tumor PortalEDA
OASIS PortalEDA [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEDA 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
BioMutasearch EDA
DgiDB (Drug Gene Interaction Database)EDA
DoCM (Curated mutations)EDA (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EDA (select a term)
intoGenEDA
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)X:68835911-69259321  ENSG00000158813
CONAN: Copy Number AnalysisEDA 
Mutations and Diseases : HGMDEDA
OMIM300451    305100    313500   
MedgenEDA
Genetic Testing Registry EDA
NextProtQ92838 [Medical]
TSGene1896
GENETestsEDA
Huge Navigator EDA [HugePedia]
snp3D : Map Gene to Disease1896
BioCentury BCIQEDA
ClinGenEDA
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1896
Chemical/Pharm GKB GenePA27601
Clinical trialEDA
Miscellaneous
canSAR (ICR)EDA (select the gene name)
Probes
Litterature
PubMed89 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEDA
EVEXEDA
GoPubMedEDA
iHOPEDA
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Tue Aug 9 19:02:01 CEST 2016

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