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EPG5 (ectopic P-granules autophagy protein 5 homolog)

Identity

Alias_namesKIAA1632
KIAA1632
ectopic P-granules autophagy protein 5 homolog (C. elegans)
Alias_symbol (synonym)hEPG5
Other aliasHEEW1
VICIS
HGNC (Hugo) EPG5
LocusID (NCBI) 57724
Atlas_Id 62859
Location 18q12.3  [Link to chromosome band 18q12]
Location_base_pair Starts at 45847609 and ends at 45967339 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ANXA8 (10q11.22) / EPG5 (18q12.3)EPG5 (18q12.3) / ETV5 (3q27.2)EPG5 (18q12.3) / ST8SIA5 (18q21.1)

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

 


External links

Nomenclature
HGNC (Hugo)EPG5   29331
Cards
Entrez_Gene (NCBI)EPG5  57724  ectopic P-granules autophagy protein 5 homolog
AliasesHEEW1; KIAA1632; VICIS
GeneCards (Weizmann)EPG5
Ensembl hg19 (Hinxton)ENSG00000152223 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000152223 [Gene_View]  chr18:45847609-45967339 [Contig_View]  EPG5 [Vega]
ICGC DataPortalENSG00000152223
TCGA cBioPortalEPG5
AceView (NCBI)EPG5
Genatlas (Paris)EPG5
WikiGenes57724
SOURCE (Princeton)EPG5
Genetics Home Reference (NIH)EPG5
Genomic and cartography
GoldenPath hg38 (UCSC)EPG5  -     chr18:45847609-45967339 -  18q12.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EPG5  -     18q12.3   [Description]    (hg19-Feb_2009)
EnsemblEPG5 - 18q12.3 [CytoView hg19]  EPG5 - 18q12.3 [CytoView hg38]
Mapping of homologs : NCBIEPG5 [Mapview hg19]  EPG5 [Mapview hg38]
OMIM242840   615068   
Gene and transcription
Genbank (Entrez)AB046852 AK023817 AK094080 AL583915 BC003695
RefSeq transcript (Entrez)NM_020964
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EPG5
Cluster EST : UnigeneHs.514843 [ NCBI ]
CGAP (NCI)Hs.514843
Alternative Splicing GalleryENSG00000152223
Gene ExpressionEPG5 [ NCBI-GEO ]   EPG5 [ EBI - ARRAY_EXPRESS ]   EPG5 [ SEEK ]   EPG5 [ MEM ]
Gene Expression Viewer (FireBrowse)EPG5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57724
GTEX Portal (Tissue expression)EPG5
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9HCE0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9HCE0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9HCE0
Splice isoforms : SwissVarQ9HCE0
PhosPhoSitePlusQ9HCE0
Domains : Interpro (EBI)EPG-5   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)EPG5
DMDM Disease mutations57724
Blocks (Seattle)EPG5
SuperfamilyQ9HCE0
Human Protein AtlasENSG00000152223
Peptide AtlasQ9HCE0
HPRD11157
IPIIPI00790360   IPI00288958   IPI01013820   IPI00913976   
Protein Interaction databases
DIP (DOE-UCLA)Q9HCE0
IntAct (EBI)Q9HCE0
FunCoupENSG00000152223
BioGRIDEPG5
STRING (EMBL)EPG5
ZODIACEPG5
Ontologies - Pathways
QuickGOQ9HCE0
Ontology : AmiGOcytoplasm  endocytic recycling  autophagosome maturation  
Ontology : EGO-EBIcytoplasm  endocytic recycling  autophagosome maturation  
NDEx NetworkEPG5
Atlas of Cancer Signalling NetworkEPG5
Wikipedia pathwaysEPG5
Orthology - Evolution
OrthoDB57724
GeneTree (enSembl)ENSG00000152223
Phylogenetic Trees/Animal Genes : TreeFamEPG5
HOVERGENQ9HCE0
HOGENOMQ9HCE0
Homologs : HomoloGeneEPG5
Homology/Alignments : Family Browser (UCSC)EPG5
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEPG5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EPG5
dbVarEPG5
ClinVarEPG5
1000_GenomesEPG5 
Exome Variant ServerEPG5
ExAC (Exome Aggregation Consortium)EPG5 (select the gene name)
Genetic variants : HAPMAP57724
Genomic Variants (DGV)EPG5 [DGVbeta]
DECIPHEREPG5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEPG5 
Mutations
ICGC Data PortalEPG5 
TCGA Data PortalEPG5 
Broad Tumor PortalEPG5
OASIS PortalEPG5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEPG5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEPG5
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 EPG5
DgiDB (Drug Gene Interaction Database)EPG5
DoCM (Curated mutations)EPG5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EPG5 (select a term)
intoGenEPG5
Cancer3DEPG5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM242840    615068   
Orphanet1665   
MedgenEPG5
Genetic Testing Registry EPG5
NextProtQ9HCE0 [Medical]
TSGene57724
GENETestsEPG5
Target ValidationEPG5
Huge Navigator EPG5 [HugePedia]
snp3D : Map Gene to Disease57724
BioCentury BCIQEPG5
ClinGenEPG5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57724
Chemical/Pharm GKB GenePA134941500
Clinical trialEPG5
Miscellaneous
canSAR (ICR)EPG5 (select the gene name)
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEPG5
EVEXEPG5
GoPubMedEPG5
iHOPEPG5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 15:47:14 CEST 2017

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