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EDF1 (endothelial differentiation related factor 1)

Identity

Alias_namesendothelial differentiation-related factor 1
Alias_symbol (synonym)EDF-1
CFAP280
Other aliasMBF1
HGNC (Hugo) EDF1
LocusID (NCBI) 8721
Atlas_Id 40403
Location 9q34.3  [Link to chromosome band 9q34]
Location_base_pair Starts at 136862669 and ends at 136866336 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)
EDF1 (9q34.3) / COL5A1 (9q34.3)EDF1 (9q34.3) / EDF1 (9q34.3)EDF1 (9q34.3) / NPDC1 (9q34.3)
EDF1 (9q34.3) / RABL6 (9q34.3)EDF1 (9q34.3) / TPRN (9q34.3)

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 ]
  del(9)(q34q34) NOTCH1/EDF1
t(9;9)(q34;q34) EDF1/NOTCH1

External links

Nomenclature
HGNC (Hugo)EDF1   3164
Cards
Entrez_Gene (NCBI)EDF1  8721  endothelial differentiation related factor 1
AliasesCFAP280; EDF-1; MBF1
GeneCards (Weizmann)EDF1
Ensembl hg19 (Hinxton)ENSG00000107223 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000107223 [Gene_View]  ENSG00000107223 [Sequence]  chr9:136862669-136866336 [Contig_View]  EDF1 [Vega]
ICGC DataPortalENSG00000107223
TCGA cBioPortalEDF1
AceView (NCBI)EDF1
Genatlas (Paris)EDF1
WikiGenes8721
SOURCE (Princeton)EDF1
Genetics Home Reference (NIH)EDF1
Genomic and cartography
GoldenPath hg38 (UCSC)EDF1  -     chr9:136862669-136866336 -  9q34.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EDF1  -     9q34.3   [Description]    (hg19-Feb_2009)
EnsemblEDF1 - 9q34.3 [CytoView hg19]  EDF1 - 9q34.3 [CytoView hg38]
Mapping of homologs : NCBIEDF1 [Mapview hg19]  EDF1 [Mapview hg38]
OMIM605107   
Gene and transcription
Genbank (Entrez)AA325420 AB002282 AB002283 BC015500 BI833652
RefSeq transcript (Entrez)NM_001281297 NM_001281298 NM_001281299 NM_003792 NM_153200
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EDF1
Cluster EST : UnigeneHs.174050 [ NCBI ]
CGAP (NCI)Hs.174050
Alternative Splicing GalleryENSG00000107223
Gene ExpressionEDF1 [ NCBI-GEO ]   EDF1 [ EBI - ARRAY_EXPRESS ]   EDF1 [ SEEK ]   EDF1 [ MEM ]
Gene Expression Viewer (FireBrowse)EDF1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8721
GTEX Portal (Tissue expression)EDF1
Human Protein AtlasENSG00000107223-EDF1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60869   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO60869  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO60869
Splice isoforms : SwissVarO60869
PhosPhoSitePlusO60869
Domaine pattern : Prosite (Expaxy)HTH_CROC1 (PS50943)   
Domains : Interpro (EBI)Cro/C1-type_HTH    Lambda_DNA-bd_dom_sf    MBF1_N   
Domain families : Pfam (Sanger)HTH_3 (PF01381)    MBF1 (PF08523)   
Domain families : Pfam (NCBI)pfam01381    pfam08523   
Domain families : Smart (EMBL)HTH_XRE (SM00530)  
Conserved Domain (NCBI)EDF1
DMDM Disease mutations8721
Blocks (Seattle)EDF1
PDB (RSDB)1X57   
PDB Europe1X57   
PDB (PDBSum)1X57   
PDB (IMB)1X57   
Structural Biology KnowledgeBase1X57   
SCOP (Structural Classification of Proteins)1X57   
CATH (Classification of proteins structures)1X57   
SuperfamilyO60869
Human Protein Atlas [tissue]ENSG00000107223-EDF1 [tissue]
Peptide AtlasO60869
HPRD09235
IPIIPI00021570   IPI00006362   IPI00640567   
Protein Interaction databases
DIP (DOE-UCLA)O60869
IntAct (EBI)O60869
FunCoupENSG00000107223
BioGRIDEDF1
STRING (EMBL)EDF1
ZODIACEDF1
Ontologies - Pathways
QuickGOO60869
Ontology : AmiGOTFIID-class transcription factor complex binding  transcription coactivator activity  RNA binding  protein binding  calmodulin binding  nucleus  nucleus  nucleus  nucleolus  cytoplasm  cytosol  regulation of transcription, DNA-templated  multicellular organism development  regulation of lipid metabolic process  positive regulation of DNA binding  sequence-specific DNA binding  endothelial cell differentiation  positive regulation of transcription, DNA-templated  
Ontology : EGO-EBITFIID-class transcription factor complex binding  transcription coactivator activity  RNA binding  protein binding  calmodulin binding  nucleus  nucleus  nucleus  nucleolus  cytoplasm  cytosol  regulation of transcription, DNA-templated  multicellular organism development  regulation of lipid metabolic process  positive regulation of DNA binding  sequence-specific DNA binding  endothelial cell differentiation  positive regulation of transcription, DNA-templated  
NDEx NetworkEDF1
Atlas of Cancer Signalling NetworkEDF1
Wikipedia pathwaysEDF1
Orthology - Evolution
OrthoDB8721
GeneTree (enSembl)ENSG00000107223
Phylogenetic Trees/Animal Genes : TreeFamEDF1
HOGENOMO60869
Homologs : HomoloGeneEDF1
Homology/Alignments : Family Browser (UCSC)EDF1
Gene fusions - Rearrangements
Fusion : QuiverEDF1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEDF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EDF1
dbVarEDF1
ClinVarEDF1
1000_GenomesEDF1 
Exome Variant ServerEDF1
ExAC (Exome Aggregation Consortium)ENSG00000107223
GNOMAD BrowserENSG00000107223
Varsome BrowserEDF1
Genetic variants : HAPMAP8721
Genomic Variants (DGV)EDF1 [DGVbeta]
DECIPHEREDF1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEDF1 
Mutations
ICGC Data PortalEDF1 
TCGA Data PortalEDF1 
Broad Tumor PortalEDF1
OASIS PortalEDF1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEDF1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEDF1
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 EDF1
DgiDB (Drug Gene Interaction Database)EDF1
DoCM (Curated mutations)EDF1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EDF1 (select a term)
intoGenEDF1
Cancer3DEDF1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605107   
Orphanet
DisGeNETEDF1
MedgenEDF1
Genetic Testing Registry EDF1
NextProtO60869 [Medical]
TSGene8721
GENETestsEDF1
Target ValidationEDF1
Huge Navigator EDF1 [HugePedia]
snp3D : Map Gene to Disease8721
BioCentury BCIQEDF1
ClinGenEDF1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8721
Chemical/Pharm GKB GenePA27604
Clinical trialEDF1
Miscellaneous
canSAR (ICR)EDF1 (select the gene name)
DataMed IndexEDF1
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEDF1
EVEXEDF1
GoPubMedEDF1
iHOPEDF1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Feb 14 16:28:24 CET 2019
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