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EPS15L1 (epidermal growth factor receptor pathway substrate 15 like 1)

Identity

Alias_namesepidermal growth factor receptor pathway substrate 15-like 1
Alias_symbol (synonym)eps15R
Other aliasEPS15R
HGNC (Hugo) EPS15L1
LocusID (NCBI) 58513
Atlas_Id 62871
Location 19p13.11  [Link to chromosome band 19p13]
Location_base_pair Starts at 16355244 and ends at 16472012 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
EPS15L1 (19p13.11) / BRD4 (19p13.12)EPS15L1 (19p13.11) / CALR3 (19p13.11)EPS15L1 (19p13.11) / CLNS1A (11q14.1)
EPS15L1 (19p13.11) / MOB2 (11p15.5)EPS15L1 (19p13.11) / PANK2 (20p13)EPS15L1 (19p13.11) / RFC1 (4p14)
EPS15L1 (19p13.11) / TPM4 (19p13.12)EPS15L1 (19p13.11) / ZNF473 (19q13.33)OLR1 (12p13.2) / EPS15L1 (19p13.11)
EPS15L1 CALR3EPS15L1 BRD4EPS15L1 CLNS1A
EPS15L1 ZNF473

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)EPS15L1   24634
Cards
Entrez_Gene (NCBI)EPS15L1  58513  epidermal growth factor receptor pathway substrate 15 like 1
AliasesEPS15R
GeneCards (Weizmann)EPS15L1
Ensembl hg19 (Hinxton)ENSG00000127527 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000127527 [Gene_View]  chr19:16355244-16472012 [Contig_View]  EPS15L1 [Vega]
ICGC DataPortalENSG00000127527
TCGA cBioPortalEPS15L1
AceView (NCBI)EPS15L1
Genatlas (Paris)EPS15L1
WikiGenes58513
SOURCE (Princeton)EPS15L1
Genetics Home Reference (NIH)EPS15L1
Genomic and cartography
GoldenPath hg38 (UCSC)EPS15L1  -     chr19:16355244-16472012 -  19p13.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EPS15L1  -     19p13.11   [Description]    (hg19-Feb_2009)
EnsemblEPS15L1 - 19p13.11 [CytoView hg19]  EPS15L1 - 19p13.11 [CytoView hg38]
Mapping of homologs : NCBIEPS15L1 [Mapview hg19]  EPS15L1 [Mapview hg38]
OMIM616826   
Gene and transcription
Genbank (Entrez)AB015346 AF110265 AK023744 AK024166 AK025770
RefSeq transcript (Entrez)NM_001258374 NM_001258375 NM_001258376 NM_021235
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EPS15L1
Cluster EST : UnigeneHs.744842 [ NCBI ]
CGAP (NCI)Hs.744842
Alternative Splicing GalleryENSG00000127527
Gene ExpressionEPS15L1 [ NCBI-GEO ]   EPS15L1 [ EBI - ARRAY_EXPRESS ]   EPS15L1 [ SEEK ]   EPS15L1 [ MEM ]
Gene Expression Viewer (FireBrowse)EPS15L1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)58513
GTEX Portal (Tissue expression)EPS15L1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UBC2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UBC2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UBC2
Splice isoforms : SwissVarQ9UBC2
PhosPhoSitePlusQ9UBC2
Domaine pattern : Prosite (Expaxy)EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)    EH (PS50031)   
Domains : Interpro (EBI)EF-hand-dom_pair    EF_Hand_1_Ca_BS    EF_hand_dom    EH_dom   
Domain families : Pfam (Sanger)EF-hand_4 (PF12763)   
Domain families : Pfam (NCBI)pfam12763   
Domain families : Smart (EMBL)EFh (SM00054)  EH (SM00027)  
Conserved Domain (NCBI)EPS15L1
DMDM Disease mutations58513
Blocks (Seattle)EPS15L1
SuperfamilyQ9UBC2
Human Protein AtlasENSG00000127527
Peptide AtlasQ9UBC2
HPRD09445
IPIIPI00942431   IPI00646339   IPI00163849   
Protein Interaction databases
DIP (DOE-UCLA)Q9UBC2
IntAct (EBI)Q9UBC2
FunCoupENSG00000127527
BioGRIDEPS15L1
STRING (EMBL)EPS15L1
ZODIACEPS15L1
Ontologies - Pathways
QuickGOQ9UBC2
Ontology : AmiGOcalcium ion binding  protein binding  nucleus  cytosol  plasma membrane  endocytosis  membrane  clathrin coat of coated pit  negative regulation of epidermal growth factor receptor signaling pathway  cadherin binding  membrane organization  
Ontology : EGO-EBIcalcium ion binding  protein binding  nucleus  cytosol  plasma membrane  endocytosis  membrane  clathrin coat of coated pit  negative regulation of epidermal growth factor receptor signaling pathway  cadherin binding  membrane organization  
NDEx NetworkEPS15L1
Atlas of Cancer Signalling NetworkEPS15L1
Wikipedia pathwaysEPS15L1
Orthology - Evolution
OrthoDB58513
GeneTree (enSembl)ENSG00000127527
Phylogenetic Trees/Animal Genes : TreeFamEPS15L1
HOVERGENQ9UBC2
HOGENOMQ9UBC2
Homologs : HomoloGeneEPS15L1
Homology/Alignments : Family Browser (UCSC)EPS15L1
Gene fusions - Rearrangements
Fusion: TCGAEPS15L1 CALR3
Fusion: TCGAEPS15L1 BRD4
Fusion: TCGAEPS15L1 CLNS1A
Fusion: TCGAEPS15L1 ZNF473
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEPS15L1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EPS15L1
dbVarEPS15L1
ClinVarEPS15L1
1000_GenomesEPS15L1 
Exome Variant ServerEPS15L1
ExAC (Exome Aggregation Consortium)EPS15L1 (select the gene name)
Genetic variants : HAPMAP58513
Genomic Variants (DGV)EPS15L1 [DGVbeta]
DECIPHEREPS15L1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEPS15L1 
Mutations
ICGC Data PortalEPS15L1 
TCGA Data PortalEPS15L1 
Broad Tumor PortalEPS15L1
OASIS PortalEPS15L1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEPS15L1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEPS15L1
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 EPS15L1
DgiDB (Drug Gene Interaction Database)EPS15L1
DoCM (Curated mutations)EPS15L1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EPS15L1 (select a term)
intoGenEPS15L1
Cancer3DEPS15L1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616826   
Orphanet
MedgenEPS15L1
Genetic Testing Registry EPS15L1
NextProtQ9UBC2 [Medical]
TSGene58513
GENETestsEPS15L1
Target ValidationEPS15L1
Huge Navigator EPS15L1 [HugePedia]
snp3D : Map Gene to Disease58513
BioCentury BCIQEPS15L1
ClinGenEPS15L1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD58513
Chemical/Pharm GKB GenePA134906266
Clinical trialEPS15L1
Miscellaneous
canSAR (ICR)EPS15L1 (select the gene name)
Probes
Litterature
PubMed45 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEPS15L1
EVEXEPS15L1
GoPubMedEPS15L1
iHOPEPS15L1
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 15:47:17 CEST 2017

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