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EPDR1 (ependymin related 1)

Identity

Alias_namesependymin related protein 1 (zebrafish)
Alias_symbol (synonym)MERP-1
MERP1
UCC1
EPDR
Other alias
HGNC (Hugo) EPDR1
LocusID (NCBI) 54749
Atlas_Id 42760
Location 7p14.1  [Link to chromosome band 7p14]
Location_base_pair Starts at 37920640 and ends at 37951934 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)
TRA2A (7p15.3) / EPDR1 (7p14.1)TRA2A 7p15.3 / EPDR1 7p14.1

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) [ 1 ]
  t(7;7)(p14;p15) TRA2A/EPDR1

External links

Nomenclature
HGNC (Hugo)EPDR1   17572
Cards
Entrez_Gene (NCBI)EPDR1  54749  ependymin related 1
AliasesEPDR; MERP-1; MERP1; UCC1
GeneCards (Weizmann)EPDR1
Ensembl hg19 (Hinxton)ENSG00000086289 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000086289 [Gene_View]  ENSG00000086289 [Sequence]  chr7:37920640-37951934 [Contig_View]  EPDR1 [Vega]
ICGC DataPortalENSG00000086289
TCGA cBioPortalEPDR1
AceView (NCBI)EPDR1
Genatlas (Paris)EPDR1
WikiGenes54749
SOURCE (Princeton)EPDR1
Genetics Home Reference (NIH)EPDR1
Genomic and cartography
GoldenPath hg38 (UCSC)EPDR1  -     chr7:37920640-37951934 +  7p14.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EPDR1  -     7p14.1   [Description]    (hg19-Feb_2009)
GoldenPathEPDR1 - 7p14.1 [CytoView hg19]  EPDR1 - 7p14.1 [CytoView hg38]
ImmunoBaseENSG00000086289
Mapping of homologs : NCBIEPDR1 [Mapview hg19]  EPDR1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AJ250475 AK290885 AK309180 AY027862 BC000686
RefSeq transcript (Entrez)NM_001242946 NM_001242948 NM_017549
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EPDR1
Alternative Splicing GalleryENSG00000086289
Gene ExpressionEPDR1 [ NCBI-GEO ]   EPDR1 [ EBI - ARRAY_EXPRESS ]   EPDR1 [ SEEK ]   EPDR1 [ MEM ]
Gene Expression Viewer (FireBrowse)EPDR1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54749
GTEX Portal (Tissue expression)EPDR1
Human Protein AtlasENSG00000086289-EPDR1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UM22   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UM22  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UM22
Splice isoforms : SwissVarQ9UM22
PhosPhoSitePlusQ9UM22
Domaine pattern : Prosite (Expaxy)EPENDYMIN_1 (PS00898)    EPENDYMIN_2 (PS00899)   
Domains : Interpro (EBI)Ependymin    Ependymin_CS   
Domain families : Pfam (Sanger)Ependymin (PF00811)   
Domain families : Pfam (NCBI)pfam00811   
Domain families : Smart (EMBL)EPEND (SM00026)  
Conserved Domain (NCBI)EPDR1
DMDM Disease mutations54749
Blocks (Seattle)EPDR1
PDB (RSDB)6E7O    6E8N    6JLD   
PDB Europe6E7O    6E8N    6JLD   
PDB (PDBSum)6E7O    6E8N    6JLD   
PDB (IMB)6E7O    6E8N    6JLD   
Structural Biology KnowledgeBase6E7O    6E8N    6JLD   
SCOP (Structural Classification of Proteins)6E7O    6E8N    6JLD   
CATH (Classification of proteins structures)6E7O    6E8N    6JLD   
SuperfamilyQ9UM22
Human Protein Atlas [tissue]ENSG00000086289-EPDR1 [tissue]
Peptide AtlasQ9UM22
HPRD16865
IPIIPI00924609   IPI00657648   IPI00924633   IPI01010298   
Protein Interaction databases
DIP (DOE-UCLA)Q9UM22
IntAct (EBI)Q9UM22
FunCoupENSG00000086289
BioGRIDEPDR1
STRING (EMBL)EPDR1
ZODIACEPDR1
Ontologies - Pathways
QuickGOQ9UM22
Ontology : AmiGOcalcium ion binding  extracellular region  lysosome  cell-matrix adhesion  lipid binding  lysosomal lumen  
Ontology : EGO-EBIcalcium ion binding  extracellular region  lysosome  cell-matrix adhesion  lipid binding  lysosomal lumen  
NDEx NetworkEPDR1
Atlas of Cancer Signalling NetworkEPDR1
Wikipedia pathwaysEPDR1
Orthology - Evolution
OrthoDB54749
GeneTree (enSembl)ENSG00000086289
Phylogenetic Trees/Animal Genes : TreeFamEPDR1
HOGENOMQ9UM22
Homologs : HomoloGeneEPDR1
Homology/Alignments : Family Browser (UCSC)EPDR1
Gene fusions - Rearrangements
Fusion : MitelmanTRA2A/EPDR1 [7p15.3/7p14.1]  [t(7;7)(p14;p15)]  
Fusion PortalTRA2A 7p15.3 EPDR1 7p14.1 LUAD
Fusion : QuiverEPDR1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEPDR1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EPDR1
dbVarEPDR1
ClinVarEPDR1
1000_GenomesEPDR1 
Exome Variant ServerEPDR1
ExAC (Exome Aggregation Consortium)ENSG00000086289
GNOMAD BrowserENSG00000086289
Varsome BrowserEPDR1
Genetic variants : HAPMAP54749
Genomic Variants (DGV)EPDR1 [DGVbeta]
DECIPHEREPDR1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEPDR1 
Mutations
ICGC Data PortalEPDR1 
TCGA Data PortalEPDR1 
Broad Tumor PortalEPDR1
OASIS PortalEPDR1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEPDR1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DEPDR1
Mutations and Diseases : HGMDEPDR1
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 EPDR1
DgiDB (Drug Gene Interaction Database)EPDR1
DoCM (Curated mutations)EPDR1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EPDR1 (select a term)
intoGenEPDR1
Cancer3DEPDR1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETEPDR1
MedgenEPDR1
Genetic Testing Registry EPDR1
NextProtQ9UM22 [Medical]
TSGene54749
GENETestsEPDR1
Target ValidationEPDR1
Huge Navigator EPDR1 [HugePedia]
snp3D : Map Gene to Disease54749
BioCentury BCIQEPDR1
ClinGenEPDR1
Clinical trials, drugs, therapy
Protein Interactions : CTD54749
Pharm GKB GenePA142671908
Clinical trialEPDR1
Miscellaneous
canSAR (ICR)EPDR1 (select the gene name)
HarmonizomeEPDR1
DataMed IndexEPDR1
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEPDR1
EVEXEPDR1
GoPubMedEPDR1
iHOPEPDR1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Jun 30 20:15:19 CEST 2020
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