Atlas of Genetics and Cytogenetics in Oncology and Haematology

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EVPL (envoplakin)

Identity

Alias (NCBI)EVPK
HGNC (Hugo) EVPL
HGNC Alias symbEVPK
LocusID (NCBI) 2125
Atlas_Id 43888
Location 17q25.1  [Link to chromosome band 17q25]
Location_base_pair Starts at 76006845 and ends at 76027306 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)
EVPL (17q25.1) / MAP2K6 (17q24.3)EVPL (17q25.1) / MISP (19p13.3)EVPL (17q25.1) / SRP68 (17q25.1)
TCEANC (Xp22.2) / EVPL (17q25.1)EVPL 17q25.1 / MAP2K6 17q24.3EVPL 17q25.1 / SRP68 17q25.1

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) [ 2 ]
  t(17;17)(q24;q25) EVPL/MAP2K6
EVPL/SRP68 (17q25)

External links

Nomenclature
HGNC (Hugo)EVPL   3503
Cards
Entrez_Gene (NCBI)EVPL  2125  envoplakin
AliasesEVPK
GeneCards (Weizmann)EVPL
Ensembl hg19 (Hinxton)ENSG00000167880 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000167880 [Gene_View]  ENSG00000167880 [Sequence]  chr17:76006845-76027306 [Contig_View]  EVPL [Vega]
ICGC DataPortalENSG00000167880
TCGA cBioPortalEVPL
AceView (NCBI)EVPL
Genatlas (Paris)EVPL
WikiGenes2125
SOURCE (Princeton)EVPL
Genetics Home Reference (NIH)EVPL
Genomic and cartography
GoldenPath hg38 (UCSC)EVPL  -     chr17:76006845-76027306 -  17q25.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EVPL  -     17q25.1   [Description]    (hg19-Feb_2009)
GoldenPathEVPL - 17q25.1 [CytoView hg19]  EVPL - 17q25.1 [CytoView hg38]
ImmunoBaseENSG00000167880
genome Data Viewer NCBIEVPL [Mapview hg19]  
OMIM601590   
Gene and transcription
Genbank (Entrez)AK290333 BC126103 BC126105 BC143813 BC143814
RefSeq transcript (Entrez)NM_001320747 NM_001988
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EVPL
Alternative Splicing GalleryENSG00000167880
Gene ExpressionEVPL [ NCBI-GEO ]   EVPL [ EBI - ARRAY_EXPRESS ]   EVPL [ SEEK ]   EVPL [ MEM ]
Gene Expression Viewer (FireBrowse)EVPL [ Firebrowse - Broad ]
GenevisibleExpression of EVPL in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2125
GTEX Portal (Tissue expression)EVPL
Human Protein AtlasENSG00000167880-EVPL [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92817   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ92817  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92817
Splice isoforms : SwissVarQ92817
PhosPhoSitePlusQ92817
Domaine pattern : Prosite (Expaxy)SH3 (PS50002)   
Domains : Interpro (EBI)Desmoplakin_SH3    Envoplakin    Plakin_repeat_sf    Plectin_repeat    SH3_domain    Spectrin/alpha-actinin   
Domain families : Pfam (Sanger)Plectin (PF00681)    SH3_10 (PF17902)   
Domain families : Pfam (NCBI)pfam00681    pfam17902   
Domain families : Smart (EMBL)PLEC (SM00250)  SPEC (SM00150)  
Conserved Domain (NCBI)EVPL
DMDM Disease mutations2125
Blocks (Seattle)EVPL
PDB (RSDB)4QMD   
PDB Europe4QMD   
PDB (PDBSum)4QMD   
PDB (IMB)4QMD   
Structural Biology KnowledgeBase4QMD   
SCOP (Structural Classification of Proteins)4QMD   
CATH (Classification of proteins structures)4QMD   
SuperfamilyQ92817
Human Protein Atlas [tissue]ENSG00000167880-EVPL [tissue]
Peptide AtlasQ92817
HPRD03352
IPIIPI00023711   IPI00922476   
Protein Interaction databases
DIP (DOE-UCLA)Q92817
IntAct (EBI)Q92817
FunCoupENSG00000167880
BioGRIDEVPL
STRING (EMBL)EVPL
ZODIACEVPL
Ontologies - Pathways
QuickGOQ92817
Ontology : AmiGOcornified envelope  cornified envelope  structural molecule activity  cytoplasm  cytosol  cytosol  intermediate filament  epidermis development  membrane  peptide cross-linking  intermediate filament binding  desmosome  keratinocyte differentiation  wound healing  intermediate filament cytoskeleton organization  intermediate filament cytoskeleton  cadherin binding  extracellular exosome  cornification  
Ontology : EGO-EBIcornified envelope  cornified envelope  structural molecule activity  cytoplasm  cytosol  cytosol  intermediate filament  epidermis development  membrane  peptide cross-linking  intermediate filament binding  desmosome  keratinocyte differentiation  wound healing  intermediate filament cytoskeleton organization  intermediate filament cytoskeleton  cadherin binding  extracellular exosome  cornification  
NDEx NetworkEVPL
Atlas of Cancer Signalling NetworkEVPL
Wikipedia pathwaysEVPL
Orthology - Evolution
OrthoDB2125
GeneTree (enSembl)ENSG00000167880
Phylogenetic Trees/Animal Genes : TreeFamEVPL
HOGENOMQ92817
Homologs : HomoloGeneEVPL
Homology/Alignments : Family Browser (UCSC)EVPL
Gene fusions - Rearrangements
Fusion : MitelmanEVPL/MAP2K6 [17q25.1/17q24.3]  
Fusion : MitelmanEVPL/SRP68 [17q25.1/17q25.1]  
Fusion PortalEVPL 17q25.1 MAP2K6 17q24.3 BRCA
Fusion PortalEVPL 17q25.1 SRP68 17q25.1 OV
Fusion : QuiverEVPL
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEVPL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EVPL
dbVarEVPL
ClinVarEVPL
1000_GenomesEVPL 
Exome Variant ServerEVPL
GNOMAD BrowserENSG00000167880
Varsome BrowserEVPL
Genetic variants : HAPMAP2125
Genomic Variants (DGV)EVPL [DGVbeta]
DECIPHEREVPL [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEVPL 
Mutations
ICGC Data PortalEVPL 
TCGA Data PortalEVPL 
Broad Tumor PortalEVPL
OASIS PortalEVPL [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEVPL  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DEVPL
Mutations and Diseases : HGMDEVPL
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 EVPL
DgiDB (Drug Gene Interaction Database)EVPL
DoCM (Curated mutations)EVPL (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EVPL (select a term)
intoGenEVPL
Cancer3DEVPL(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601590   
Orphanet
DisGeNETEVPL
MedgenEVPL
Genetic Testing Registry EVPL
NextProtQ92817 [Medical]
TSGene2125
GENETestsEVPL
Target ValidationEVPL
Huge Navigator EVPL [HugePedia]
snp3D : Map Gene to Disease2125
BioCentury BCIQEVPL
ClinGenEVPL
Clinical trials, drugs, therapy
Protein Interactions : CTD2125
Pharm GKB GenePA27916
Clinical trialEVPL
Miscellaneous
canSAR (ICR)EVPL (select the gene name)
HarmonizomeEVPL
DataMed IndexEVPL
Probes
Litterature
PubMed36 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEVPL
EVEXEVPL
GoPubMedEVPL
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 15:12:33 CEST 2020
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