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EPC1 (enhancer of polycomb homolog 1)

Identity

Alias (NCBI)Epl1
HGNC (Hugo) EPC1
HGNC Alias symbEpl1
HGNC Previous nameenhancer of polycomb homolog 1 (Drosophila)
LocusID (NCBI) 80314
Atlas_Id 42977
Location 10p11.22  [Link to chromosome band 10p11]
Location_base_pair Starts at 32267716 and ends at 32347158 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)
BMPR2 (2q33.1) / EPC1 (10p11.22)DDX24 (14q32.12) / EPC1 (10p11.22)EPC1 (10p11.22) / ASXL2 (2p23.3)
EPC1 (10p11.22) / BMPR2 (2q33.1)EPC1 (10p11.22) / PHF1 (6p21.32)EPC1 (10p11.22) / PTGR2 (14q24.3)
EPC1 (10p11.22) / RBM47 (4p14)EPC1 (10p11.22) / SNX5 (20p11.23)EPC1 (10p11.22) / ZEB1 (10p11.22)
LGALS4 (19q13.2) / EPC1 (10p11.22)EPC1 PHF1EPC1 10p11.22 / PTGR2 14q24.3

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 ]
  t(2;8)(p23;p11) KAT6A/ASXL2
t(2;10)(p23;p11) EPC1/ASXL2

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 5 ]
  t(6;10)(p21;p11) EPC1/PHF1
t(6;10)(p21;p11) EPC1/PHF1
t(6;10)(p21;p11) EPC1/PHF1
t(7;17)(p15;q21) PHF1/EPC1
t(10;14)(p11;q24) EPC1/PTGR2

External links

Nomenclature
HGNC (Hugo)EPC1   19876
Cards
Entrez_Gene (NCBI)EPC1  80314  enhancer of polycomb homolog 1
AliasesEpl1
GeneCards (Weizmann)EPC1
Ensembl hg19 (Hinxton)ENSG00000120616 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000120616 [Gene_View]  ENSG00000120616 [Sequence]  chr10:32267716-32347158 [Contig_View]  EPC1 [Vega]
ICGC DataPortalENSG00000120616
TCGA cBioPortalEPC1
AceView (NCBI)EPC1
Genatlas (Paris)EPC1
WikiGenes80314
SOURCE (Princeton)EPC1
Genetics Home Reference (NIH)EPC1
Genomic and cartography
GoldenPath hg38 (UCSC)EPC1  -     chr10:32267716-32347158 -  10p11.22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EPC1  -     10p11.22   [Description]    (hg19-Feb_2009)
GoldenPathEPC1 - 10p11.22 [CytoView hg19]  EPC1 - 10p11.22 [CytoView hg38]
ImmunoBaseENSG00000120616
genome Data Viewer NCBIEPC1 [Mapview hg19]  
OMIM610999   
Gene and transcription
Genbank (Entrez)AA553969 AF277374 AF286905 AK024329 AK092304
RefSeq transcript (Entrez)NM_001272004 NM_001272019 NM_001282391 NM_001382753 NM_001382754 NM_001382755 NM_001382756 NM_025209
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EPC1
Alternative Splicing GalleryENSG00000120616
Gene ExpressionEPC1 [ NCBI-GEO ]   EPC1 [ EBI - ARRAY_EXPRESS ]   EPC1 [ SEEK ]   EPC1 [ MEM ]
Gene Expression Viewer (FireBrowse)EPC1 [ Firebrowse - Broad ]
GenevisibleExpression of EPC1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)80314
GTEX Portal (Tissue expression)EPC1
Human Protein AtlasENSG00000120616-EPC1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H2F5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H2F5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H2F5
Splice isoforms : SwissVarQ9H2F5
PhosPhoSitePlusQ9H2F5
Domains : Interpro (EBI)Enhancer_polycomb    Enhancer_polycomb-like_N    Enhancer_polycomb_C   
Domain families : Pfam (Sanger)E_Pc_C (PF06752)    EPL1 (PF10513)   
Domain families : Pfam (NCBI)pfam06752    pfam10513   
Conserved Domain (NCBI)EPC1
DMDM Disease mutations80314
Blocks (Seattle)EPC1
PDB (RSDB)6NFX   
PDB Europe6NFX   
PDB (PDBSum)6NFX   
PDB (IMB)6NFX   
Structural Biology KnowledgeBase6NFX   
SCOP (Structural Classification of Proteins)6NFX   
CATH (Classification of proteins structures)6NFX   
SuperfamilyQ9H2F5
Human Protein Atlas [tissue]ENSG00000120616-EPC1 [tissue]
Peptide AtlasQ9H2F5
HPRD09941
IPIIPI00018823   IPI00302085   IPI00552203   
Protein Interaction databases
DIP (DOE-UCLA)Q9H2F5
IntAct (EBI)Q9H2F5
FunCoupENSG00000120616
BioGRIDEPC1
STRING (EMBL)EPC1
ZODIACEPC1
Ontologies - Pathways
QuickGOQ9H2F5
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  histone acetyltransferase activity  histone acetyltransferase activity  protein binding  nucleus  nucleoplasm  nucleoplasm  transcription, DNA-templated  regulation of transcription by RNA polymerase II  nuclear body  nuclear membrane  Piccolo NuA4 histone acetyltransferase complex  Piccolo NuA4 histone acetyltransferase complex  NuA4 histone acetyltransferase complex  vascular smooth muscle cell differentiation  regulation of growth  histone H4 acetylation  histone H2A acetylation  negative regulation of gene expression, epigenetic  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  negative regulation of G0 to G1 transition  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  histone acetyltransferase activity  histone acetyltransferase activity  protein binding  nucleus  nucleoplasm  nucleoplasm  transcription, DNA-templated  regulation of transcription by RNA polymerase II  nuclear body  nuclear membrane  Piccolo NuA4 histone acetyltransferase complex  Piccolo NuA4 histone acetyltransferase complex  NuA4 histone acetyltransferase complex  vascular smooth muscle cell differentiation  regulation of growth  histone H4 acetylation  histone H2A acetylation  negative regulation of gene expression, epigenetic  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  negative regulation of G0 to G1 transition  
NDEx NetworkEPC1
Atlas of Cancer Signalling NetworkEPC1
Wikipedia pathwaysEPC1
Orthology - Evolution
OrthoDB80314
GeneTree (enSembl)ENSG00000120616
Phylogenetic Trees/Animal Genes : TreeFamEPC1
HOGENOMQ9H2F5
Homologs : HomoloGeneEPC1
Homology/Alignments : Family Browser (UCSC)EPC1
Gene fusions - Rearrangements
Fusion : MitelmanEPC1/ASXL2 [10p11.22/2p23.3]  
Fusion : MitelmanEPC1/PHF1 [10p11.22/6p21.32]  
Fusion : MitelmanEPC1/PTGR2 [10p11.22/14q24.3]  
Fusion PortalEPC1 10p11.22 PTGR2 14q24.3 BRCA
Fusion : QuiverEPC1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEPC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EPC1
dbVarEPC1
ClinVarEPC1
1000_GenomesEPC1 
Exome Variant ServerEPC1
GNOMAD BrowserENSG00000120616
Varsome BrowserEPC1
Genetic variants : HAPMAP80314
Genomic Variants (DGV)EPC1 [DGVbeta]
DECIPHEREPC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEPC1 
Mutations
ICGC Data PortalEPC1 
TCGA Data PortalEPC1 
Broad Tumor PortalEPC1
OASIS PortalEPC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEPC1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DEPC1
Mutations and Diseases : HGMDEPC1
intOGen PortalEPC1
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 EPC1
DgiDB (Drug Gene Interaction Database)EPC1
DoCM (Curated mutations)EPC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EPC1 (select a term)
intoGenEPC1
Cancer3DEPC1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610999   
Orphanet
DisGeNETEPC1
MedgenEPC1
Genetic Testing Registry EPC1
NextProtQ9H2F5 [Medical]
TSGene80314
GENETestsEPC1
Target ValidationEPC1
Huge Navigator EPC1 [HugePedia]
snp3D : Map Gene to Disease80314
BioCentury BCIQEPC1
ClinGenEPC1
Clinical trials, drugs, therapy
Protein Interactions : CTD80314
Pharm GKB GenePA134981141
Clinical trialEPC1
Miscellaneous
canSAR (ICR)EPC1 (select the gene name)
HarmonizomeEPC1
DataMed IndexEPC1
Probes
Litterature
PubMed53 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEPC1
EVEXEPC1
GoPubMedEPC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jul 16 15:12:13 CEST 2020
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