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

Identity

Alias (NCBI)EPS15R
HGNC (Hugo) EPS15L1
HGNC Alias symbeps15R
HGNC Previous nameepidermal growth factor receptor pathway substrate 15-like 1
LocusID (NCBI) 58513
Atlas_Id 62871
Location 19p13.11  [Link to chromosome band 19p13]
Location_base_pair Starts at 16361578 and ends at 16472012 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)
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    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]  ENSG00000127527 [Sequence]  chr19:16361578-16472012 [Contig_View]  EPS15L1 [Vega]
ICGC DataPortalENSG00000127527
TCGA cBioPortalEPS15L1
AceView (NCBI)EPS15L1
Genatlas (Paris)EPS15L1
SOURCE (Princeton)EPS15L1
Genetics Home Reference (NIH)EPS15L1
Genomic and cartography
GoldenPath hg38 (UCSC)EPS15L1  -     chr19:16361578-16472012 -  19p13.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EPS15L1  -     19p13.11   [Description]    (hg19-Feb_2009)
GoldenPathEPS15L1 - 19p13.11 [CytoView hg19]  EPS15L1 - 19p13.11 [CytoView hg38]
ImmunoBaseENSG00000127527
Genome Data Viewer NCBIEPS15L1 [Mapview hg19]  
OMIM616826   
Gene and transcription
Genbank (Entrez)AB015346 AF110265 AK023744 AK024166 AK025770
RefSeq transcript (Entrez)NM_001258374 NM_001258375 NM_001258376 NM_021235
Consensus coding sequences : CCDS (NCBI)EPS15L1
Gene ExpressionEPS15L1 [ NCBI-GEO ]   EPS15L1 [ EBI - ARRAY_EXPRESS ]   EPS15L1 [ SEEK ]   EPS15L1 [ MEM ]
Gene Expression Viewer (FireBrowse)EPS15L1 [ Firebrowse - Broad ]
GenevisibleExpression of EPS15L1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)58513
GTEX Portal (Tissue expression)EPS15L1
Human Protein AtlasENSG00000127527-EPS15L1 [pathology]   [cell]   [tissue]
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
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
SuperfamilyQ9UBC2
AlphaFold pdb e-kbQ9UBC2   
Human Protein Atlas [tissue]ENSG00000127527-EPS15L1 [tissue]
HPRD09445
Protein Interaction databases
DIP (DOE-UCLA)Q9UBC2
IntAct (EBI)Q9UBC2
BioGRIDEPS15L1
STRING (EMBL)EPS15L1
ZODIACEPS15L1
Ontologies - Pathways
QuickGOQ9UBC2
Ontology : AmiGOcalcium ion binding  protein binding  nucleus  cytoplasm  cytosol  plasma membrane  plasma membrane  endocytosis  membrane  endosomal transport  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  cytoplasm  cytosol  plasma membrane  plasma membrane  endocytosis  membrane  endosomal transport  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
Homologs : HomoloGeneEPS15L1
Homology/Alignments : Family Browser (UCSC)EPS15L1
Gene fusions - Rearrangements
Fusion : QuiverEPS15L1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEPS15L1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EPS15L1
dbVarEPS15L1
ClinVarEPS15L1
MonarchEPS15L1
1000_GenomesEPS15L1 
Exome Variant ServerEPS15L1
GNOMAD BrowserENSG00000127527
Varsome BrowserEPS15L1
ACMGEPS15L1 variants
VarityQ9UBC2
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]  
Somatic Mutations in Cancer : COSMIC3DEPS15L1
Mutations and Diseases : HGMDEPS15L1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaEPS15L1
DgiDB (Drug Gene Interaction Database)EPS15L1
DoCM (Curated mutations)EPS15L1
CIViC (Clinical Interpretations of Variants in Cancer)EPS15L1
Cancer3DEPS15L1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616826   
Orphanet
DisGeNETEPS15L1
MedgenEPS15L1
Genetic Testing Registry EPS15L1
NextProtQ9UBC2 [Medical]
GENETestsEPS15L1
Target ValidationEPS15L1
Huge Navigator EPS15L1 [HugePedia]
ClinGenEPS15L1
Clinical trials, drugs, therapy
MyCancerGenomeEPS15L1
Protein Interactions : CTDEPS15L1
Pharm GKB GenePA134906266
PharosQ9UBC2
Clinical trialEPS15L1
Miscellaneous
canSAR (ICR)EPS15L1
HarmonizomeEPS15L1
ARCHS4EPS15L1
DataMed IndexEPS15L1
Probes
Litterature
PubMed73 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXEPS15L1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sun Jan 16 18:51:48 CET 2022

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