Atlas of Genetics and Cytogenetics in Oncology and Haematology

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EED (embryonic ectoderm development)

Identity

Alias_symbol (synonym)WAIT-1
HEED
Other aliasCOGIS
WAIT1
HGNC (Hugo) EED
LocusID (NCBI) 8726
Atlas_Id 47375
Location 12q22  [Link to chromosome band 12q22]
Location_base_pair Starts at 86244384 and ends at 86278810 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CFL1 (11q13.1) / EED (11q14.2)EED (11q14.2) / AOAH (7p14.2)EED (11q14.2) / SRSF4 (1p35.3)
GATC (12q24.31) / EED (11q14.2)NSF (17q21.31) / EED (11q14.2)NSF 17q21.31 / EED 11q14.2

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 Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  Early T-cell precursor acute lymphoblastic leukemia
Pediatric T-Cell Acute Lymphoblastic Leukemia

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(11;17)(q14;q21) NSF/EED

Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Weaver syndrome

External links

Nomenclature
HGNC (Hugo)EED   3188
Cards
Entrez_Gene (NCBI)EED  8726  embryonic ectoderm development
AliasesCOGIS; HEED; WAIT1
GeneCards (Weizmann)EED
Ensembl hg19 (Hinxton)ENSG00000074266 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000074266 [Gene_View]  ENSG00000074266 [Sequence]  chr11:86244384-86278810 [Contig_View]  EED [Vega]
ICGC DataPortalENSG00000074266
TCGA cBioPortalEED
AceView (NCBI)EED
Genatlas (Paris)EED
WikiGenes8726
SOURCE (Princeton)EED
Genetics Home Reference (NIH)EED
Genomic and cartography
GoldenPath hg38 (UCSC)EED  -     chr11:86244384-86278810 +  12q22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EED  -     12q22   [Description]    (hg19-Feb_2009)
EnsemblEED - 12q22 [CytoView hg19]  EED - 12q22 [CytoView hg38]
Mapping of homologs : NCBIEED [Mapview hg19]  EED [Mapview hg38]
OMIM605984   617561   
Gene and transcription
Genbank (Entrez)AA811323 AF070418 AF078933 AF080227 AF099032
RefSeq transcript (Entrez)NM_001308007 NM_001330334 NM_003797 NM_152991
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EED
Cluster EST : UnigeneHs.528103 [ NCBI ]
CGAP (NCI)Hs.528103
Alternative Splicing GalleryENSG00000074266
Gene ExpressionEED [ NCBI-GEO ]   EED [ EBI - ARRAY_EXPRESS ]   EED [ SEEK ]   EED [ MEM ]
Gene Expression Viewer (FireBrowse)EED [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8726
GTEX Portal (Tissue expression)EED
Human Protein AtlasENSG00000074266-EED [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75530   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75530  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75530
Splice isoforms : SwissVarO75530
PhosPhoSitePlusO75530
Domaine pattern : Prosite (Expaxy)WD_REPEATS_1 (PS00678)    WD_REPEATS_2 (PS50082)    WD_REPEATS_REGION (PS50294)   
Domains : Interpro (EBI)Polycomb_EED    WD40/YVTN_repeat-like_dom_sf    WD40_repeat    WD40_repeat_CS    WD40_repeat_dom    WD40_repeat_dom_sf   
Domain families : Pfam (Sanger)WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam00400   
Domain families : Smart (EMBL)WD40 (SM00320)  
Conserved Domain (NCBI)EED
DMDM Disease mutations8726
Blocks (Seattle)EED
PDB (SRS)3IIW    3IIY    3IJ0    3IJ1    3IJC    3JPX    3JZG    3JZH    3JZN    3K26    3K27    4W2R    4X3E    5GSA    5H13    5H14    5H15    5H17    5H19    5H24    5H25    5HYN    5IJ7    5IJ8    5K0M    5LS6    5TTW    5U5H    5U5K    5U5T    5U62    5U69    5U6D    5U8A    5U8F    5WP3    5WUK    6B3W    6C23    6C24   
PDB (PDBSum)3IIW    3IIY    3IJ0    3IJ1    3IJC    3JPX    3JZG    3JZH    3JZN    3K26    3K27    4W2R    4X3E    5GSA    5H13    5H14    5H15    5H17    5H19    5H24    5H25    5HYN    5IJ7    5IJ8    5K0M    5LS6    5TTW    5U5H    5U5K    5U5T    5U62    5U69    5U6D    5U8A    5U8F    5WP3    5WUK    6B3W    6C23    6C24   
PDB (IMB)3IIW    3IIY    3IJ0    3IJ1    3IJC    3JPX    3JZG    3JZH    3JZN    3K26    3K27    4W2R    4X3E    5GSA    5H13    5H14    5H15    5H17    5H19    5H24    5H25    5HYN    5IJ7    5IJ8    5K0M    5LS6    5TTW    5U5H    5U5K    5U5T    5U62    5U69    5U6D    5U8A    5U8F    5WP3    5WUK    6B3W    6C23    6C24   
PDB (RSDB)3IIW    3IIY    3IJ0    3IJ1    3IJC    3JPX    3JZG    3JZH    3JZN    3K26    3K27    4W2R    4X3E    5GSA    5H13    5H14    5H15    5H17    5H19    5H24    5H25    5HYN    5IJ7    5IJ8    5K0M    5LS6    5TTW    5U5H    5U5K    5U5T    5U62    5U69    5U6D    5U8A    5U8F    5WP3    5WUK    6B3W    6C23    6C24   
Structural Biology KnowledgeBase3IIW    3IIY    3IJ0    3IJ1    3IJC    3JPX    3JZG    3JZH    3JZN    3K26    3K27    4W2R    4X3E    5GSA    5H13    5H14    5H15    5H17    5H19    5H24    5H25    5HYN    5IJ7    5IJ8    5K0M    5LS6    5TTW    5U5H    5U5K    5U5T    5U62    5U69    5U6D    5U8A    5U8F    5WP3    5WUK    6B3W    6C23    6C24   
SCOP (Structural Classification of Proteins)3IIW    3IIY    3IJ0    3IJ1    3IJC    3JPX    3JZG    3JZH    3JZN    3K26    3K27    4W2R    4X3E    5GSA    5H13    5H14    5H15    5H17    5H19    5H24    5H25    5HYN    5IJ7    5IJ8    5K0M    5LS6    5TTW    5U5H    5U5K    5U5T    5U62    5U69    5U6D    5U8A    5U8F    5WP3    5WUK    6B3W    6C23    6C24   
CATH (Classification of proteins structures)3IIW    3IIY    3IJ0    3IJ1    3IJC    3JPX    3JZG    3JZH    3JZN    3K26    3K27    4W2R    4X3E    5GSA    5H13    5H14    5H15    5H17    5H19    5H24    5H25    5HYN    5IJ7    5IJ8    5K0M    5LS6    5TTW    5U5H    5U5K    5U5T    5U62    5U69    5U6D    5U8A    5U8F    5WP3    5WUK    6B3W    6C23    6C24   
SuperfamilyO75530
Human Protein Atlas [tissue]ENSG00000074266-EED [tissue]
Peptide AtlasO75530
HPRD09343
IPIIPI00395515   IPI00432040   IPI00171248   IPI00979143   IPI00975934   IPI00976520   IPI00977098   IPI00978431   
Protein Interaction databases
DIP (DOE-UCLA)O75530
IntAct (EBI)O75530
FunCoupENSG00000074266
BioGRIDEED
STRING (EMBL)EED
ZODIACEED
Ontologies - Pathways
QuickGOO75530
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  negative regulation of transcription by RNA polymerase II  RNA polymerase II proximal promoter sequence-specific DNA binding  sex chromatin  chromatin binding  protein binding  nucleus  nucleoplasm  nucleoplasm  cytosol  chromatin silencing  regulation of gene expression by genetic imprinting  transcription, DNA-templated  spinal cord development  nucleosome binding  ESC/E(Z) complex  ESC/E(Z) complex  histone methyltransferase activity  histone methyltransferase activity  histone methyltransferase activity  identical protein binding  pronucleus  negative regulation of gene expression, epigenetic  negative regulation of transcription, DNA-templated  histone methyltransferase activity (H3-K27 specific)  histone methyltransferase activity (H3-K27 specific)  positive regulation of histone H3-K27 methylation  negative regulation of G0 to G1 transition  histone H3-K27 methylation  cellular response to leukemia inhibitory factor  regulation of adaxial/abaxial pattern formation  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  negative regulation of transcription by RNA polymerase II  RNA polymerase II proximal promoter sequence-specific DNA binding  sex chromatin  chromatin binding  protein binding  nucleus  nucleoplasm  nucleoplasm  cytosol  chromatin silencing  regulation of gene expression by genetic imprinting  transcription, DNA-templated  spinal cord development  nucleosome binding  ESC/E(Z) complex  ESC/E(Z) complex  histone methyltransferase activity  histone methyltransferase activity  histone methyltransferase activity  identical protein binding  pronucleus  negative regulation of gene expression, epigenetic  negative regulation of transcription, DNA-templated  histone methyltransferase activity (H3-K27 specific)  histone methyltransferase activity (H3-K27 specific)  positive regulation of histone H3-K27 methylation  negative regulation of G0 to G1 transition  histone H3-K27 methylation  cellular response to leukemia inhibitory factor  regulation of adaxial/abaxial pattern formation  
NDEx NetworkEED
Atlas of Cancer Signalling NetworkEED
Wikipedia pathwaysEED
Orthology - Evolution
OrthoDB8726
GeneTree (enSembl)ENSG00000074266
Phylogenetic Trees/Animal Genes : TreeFamEED
HOVERGENO75530
HOGENOMO75530
Homologs : HomoloGeneEED
Homology/Alignments : Family Browser (UCSC)EED
Gene fusions - Rearrangements
Fusion : MitelmanNSF/EED [17q21.31/11q14.2]  [t(11;17)(q14;q21)]  
Fusion PortalNSF 17q21.31 EED 11q14.2 PRAD
Fusion : QuiverEED
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEED [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EED
dbVarEED
ClinVarEED
1000_GenomesEED 
Exome Variant ServerEED
ExAC (Exome Aggregation Consortium)ENSG00000074266
GNOMAD BrowserENSG00000074266
Varsome BrowserEED
Genetic variants : HAPMAP8726
Genomic Variants (DGV)EED [DGVbeta]
DECIPHEREED [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEED 
Mutations
ICGC Data PortalEED 
TCGA Data PortalEED 
Broad Tumor PortalEED
OASIS PortalEED [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEED  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEED
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
BioMutasearch EED
DgiDB (Drug Gene Interaction Database)EED
DoCM (Curated mutations)EED (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EED (select a term)
intoGenEED
Cancer3DEED(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605984    617561   
Orphanet
DisGeNETEED
MedgenEED
Genetic Testing Registry EED
NextProtO75530 [Medical]
TSGene8726
GENETestsEED
Target ValidationEED
Huge Navigator EED [HugePedia]
snp3D : Map Gene to Disease8726
BioCentury BCIQEED
ClinGenEED
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8726
Chemical/Pharm GKB GenePA27624
Clinical trialEED
Miscellaneous
canSAR (ICR)EED (select the gene name)
Probes
Litterature
PubMed92 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEED
EVEXEED
GoPubMedEED
iHOPEED
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Aug 16 10:59:35 CEST 2018
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