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EPN1 (epsin 1)

Identity

Other alias-
HGNC (Hugo) EPN1
LocusID (NCBI) 29924
Atlas_Id 54286
Location 19q13.42  [Link to chromosome band 19q13]
Location_base_pair Starts at 56187991 and ends at 56207133 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ARHGEF11 (1q23.1) / EPN1 (19q13.42)EPN1 (19q13.42) / COL1A1 (17q21.33)EPN1 (19q13.42) / U2AF2 (19q13.42)
EPN1 19q13.42 / U2AF2 19q13.42

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) [ 1 ]
  t(11;11)(q14;q23) KMT2A/PICALM::inv(11)(q14q23) KMT2A/PICALM


External links

Nomenclature
HGNC (Hugo)EPN1   21604
Cards
Entrez_Gene (NCBI)EPN1  29924  epsin 1
Aliases
GeneCards (Weizmann)EPN1
Ensembl hg19 (Hinxton)ENSG00000063245 [Gene_View]  chr19:56187991-56207133 [Contig_View]  EPN1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000063245 [Gene_View]  chr19:56187991-56207133 [Contig_View]  EPN1 [Vega]
ICGC DataPortalENSG00000063245
TCGA cBioPortalEPN1
AceView (NCBI)EPN1
Genatlas (Paris)EPN1
WikiGenes29924
SOURCE (Princeton)EPN1
Genetics Home Reference (NIH)EPN1
Genomic and cartography
GoldenPath hg19 (UCSC)EPN1  -     chr19:56187991-56207133 +  19q13.42   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)EPN1  -     19q13.42   [Description]    (hg38-Dec_2013)
EnsemblEPN1 - 19q13.42 [CytoView hg19]  EPN1 - 19q13.42 [CytoView hg38]
Mapping of homologs : NCBIEPN1 [Mapview hg19]  EPN1 [Mapview hg38]
OMIM607262   
Gene and transcription
Genbank (Entrez)AF073727 AK022454 AK300545 AK314690 BC044651
RefSeq transcript (Entrez)NM_001130071 NM_001130072 NM_013333
RefSeq genomic (Entrez)NC_000019 NC_018930 NT_011109 NW_004929415
Consensus coding sequences : CCDS (NCBI)EPN1
Cluster EST : UnigeneHs.279953 [ NCBI ]
CGAP (NCI)Hs.279953
Alternative Splicing GalleryENSG00000063245
Gene ExpressionEPN1 [ NCBI-GEO ]   EPN1 [ EBI - ARRAY_EXPRESS ]   EPN1 [ SEEK ]   EPN1 [ MEM ]
Gene Expression Viewer (FireBrowse)EPN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)29924
GTEX Portal (Tissue expression)EPN1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y6I3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y6I3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y6I3
Splice isoforms : SwissVarQ9Y6I3
PhosPhoSitePlusQ9Y6I3
Domaine pattern : Prosite (Expaxy)ENTH (PS50942)    UIM (PS50330)   
Domains : Interpro (EBI)ENTH    ENTH_VHS    UIM_dom   
Domain families : Pfam (Sanger)ENTH (PF01417)   
Domain families : Pfam (NCBI)pfam01417   
Domain families : Smart (EMBL)ENTH (SM00273)  UIM (SM00726)  
Conserved Domain (NCBI)EPN1
DMDM Disease mutations29924
Blocks (Seattle)EPN1
PDB (SRS)1INZ   
PDB (PDBSum)1INZ   
PDB (IMB)1INZ   
PDB (RSDB)1INZ   
Structural Biology KnowledgeBase1INZ   
SCOP (Structural Classification of Proteins)1INZ   
CATH (Classification of proteins structures)1INZ   
SuperfamilyQ9Y6I3
Human Protein AtlasENSG00000063245
Peptide AtlasQ9Y6I3
HPRD06270
IPIIPI00647389   IPI00027082   IPI00397365   IPI01011997   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y6I3
IntAct (EBI)Q9Y6I3
FunCoupENSG00000063245
BioGRIDEPN1
STRING (EMBL)EPN1
ZODIACEPN1
Ontologies - Pathways
QuickGOQ9Y6I3
Ontology : AmiGOin utero embryonic development  protein binding  nucleus  cytoplasm  plasma membrane  coated pit  endocytosis  Notch signaling pathway  female pregnancy  lipid binding  negative regulation of epidermal growth factor receptor signaling pathway  embryonic organ development  
Ontology : EGO-EBIin utero embryonic development  protein binding  nucleus  cytoplasm  plasma membrane  coated pit  endocytosis  Notch signaling pathway  female pregnancy  lipid binding  negative regulation of epidermal growth factor receptor signaling pathway  embryonic organ development  
Pathways : BIOCARTAEndocytotic role of NDK, Phosphins and Dynamin [Genes]   
Pathways : KEGGEndocytosis   
NDEx NetworkEPN1
Atlas of Cancer Signalling NetworkEPN1
Wikipedia pathwaysEPN1
Orthology - Evolution
OrthoDB29924
GeneTree (enSembl)ENSG00000063245
Phylogenetic Trees/Animal Genes : TreeFamEPN1
HOVERGENQ9Y6I3
HOGENOMQ9Y6I3
Homologs : HomoloGeneEPN1
Homology/Alignments : Family Browser (UCSC)EPN1
Gene fusions - Rearrangements
Fusion : MitelmanEPN1/COL1A1 [19q13.42/17q21.33]  
Fusion : MitelmanEPN1/U2AF2 [19q13.42/19q13.42]  [t(19;19)(q13;q13)]  
Fusion: TCGAEPN1 19q13.42 U2AF2 19q13.42 LUAD LUSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEPN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EPN1
dbVarEPN1
ClinVarEPN1
1000_GenomesEPN1 
Exome Variant ServerEPN1
ExAC (Exome Aggregation Consortium)EPN1 (select the gene name)
Genetic variants : HAPMAP29924
Genomic Variants (DGV)EPN1 [DGVbeta]
DECIPHER (Syndromes)19:56187991-56207133  ENSG00000063245
CONAN: Copy Number AnalysisEPN1 
Mutations
ICGC Data PortalEPN1 
TCGA Data PortalEPN1 
Broad Tumor PortalEPN1
OASIS PortalEPN1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEPN1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEPN1
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 EPN1
DgiDB (Drug Gene Interaction Database)EPN1
DoCM (Curated mutations)EPN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EPN1 (select a term)
intoGenEPN1
Cancer3DEPN1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607262   
Orphanet
MedgenEPN1
Genetic Testing Registry EPN1
NextProtQ9Y6I3 [Medical]
TSGene29924
GENETestsEPN1
Huge Navigator EPN1 [HugePedia]
snp3D : Map Gene to Disease29924
BioCentury BCIQEPN1
ClinGenEPN1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD29924
Chemical/Pharm GKB GenePA134860916
Clinical trialEPN1
Miscellaneous
canSAR (ICR)EPN1 (select the gene name)
Probes
Litterature
PubMed62 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEPN1
EVEXEPN1
GoPubMedEPN1
iHOPEPN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 13:04:51 CET 2017

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