Atlas of Genetics and Cytogenetics in Oncology and Haematology


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EPS8L1 (EPS8 like 1)

Identity

Alias_symbol (synonym)FLJ20258
DRC3
MGC23164
MGC4642
Other aliasEPS8R1
PP10566
HGNC (Hugo) EPS8L1
LocusID (NCBI) 54869
Atlas_Id 62872
Location 19q13.42  [Link to chromosome band 19q13]
Location_base_pair Starts at 55080392 and ends at 55087923 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)
EPS8L1 (19q13.42) / C15orf39 (15q24.2)

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)EPS8L1   21295
Cards
Entrez_Gene (NCBI)EPS8L1  54869  EPS8 like 1
AliasesDRC3; EPS8R1; PP10566
GeneCards (Weizmann)EPS8L1
Ensembl hg19 (Hinxton)ENSG00000131037 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000131037 [Gene_View]  chr19:55080392-55087923 [Contig_View]  EPS8L1 [Vega]
ICGC DataPortalENSG00000131037
TCGA cBioPortalEPS8L1
AceView (NCBI)EPS8L1
Genatlas (Paris)EPS8L1
WikiGenes54869
SOURCE (Princeton)EPS8L1
Genetics Home Reference (NIH)EPS8L1
Genomic and cartography
GoldenPath hg38 (UCSC)EPS8L1  -     chr19:55080392-55087923 +  19q13.42   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EPS8L1  -     19q13.42   [Description]    (hg19-Feb_2009)
EnsemblEPS8L1 - 19q13.42 [CytoView hg19]  EPS8L1 - 19q13.42 [CytoView hg38]
Mapping of homologs : NCBIEPS8L1 [Mapview hg19]  EPS8L1 [Mapview hg38]
OMIM614987   
Gene and transcription
Genbank (Entrez)AF282167 AF370395 AK000265 AK057052 AK075098
RefSeq transcript (Entrez)NM_017729 NM_133180 NM_139204
RefSeq genomic (Entrez)NC_000019 NC_018930 NT_187693 NW_003571054 NW_003571055 NW_003571056 NW_003571057 NW_003571058 NW_003571059 NW_003571060 NW_003571061
Consensus coding sequences : CCDS (NCBI)EPS8L1
Cluster EST : UnigeneHs.438862 [ NCBI ]
CGAP (NCI)Hs.438862
Alternative Splicing GalleryENSG00000131037
Gene ExpressionEPS8L1 [ NCBI-GEO ]   EPS8L1 [ EBI - ARRAY_EXPRESS ]   EPS8L1 [ SEEK ]   EPS8L1 [ MEM ]
Gene Expression Viewer (FireBrowse)EPS8L1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54869
GTEX Portal (Tissue expression)EPS8L1
Human Protein AtlasENSG00000131037-EPS8L1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TE68   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TE68  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TE68
Splice isoforms : SwissVarQ8TE68
PhosPhoSitePlusQ8TE68
Domaine pattern : Prosite (Expaxy)SH3 (PS50002)   
Domains : Interpro (EBI)EPS8_PTB    PH_dom-like    PTB    PTB/PI_dom    SH3_domain   
Domain families : Pfam (Sanger)PTB (PF08416)    SH3_1 (PF00018)   
Domain families : Pfam (NCBI)pfam08416    pfam00018   
Domain families : Smart (EMBL)PTB (SM00462)  SH3 (SM00326)  
Conserved Domain (NCBI)EPS8L1
DMDM Disease mutations54869
Blocks (Seattle)EPS8L1
PDB (SRS)2K2M    2ROL   
PDB (PDBSum)2K2M    2ROL   
PDB (IMB)2K2M    2ROL   
PDB (RSDB)2K2M    2ROL   
Structural Biology KnowledgeBase2K2M    2ROL   
SCOP (Structural Classification of Proteins)2K2M    2ROL   
CATH (Classification of proteins structures)2K2M    2ROL   
SuperfamilyQ8TE68
Human Protein Atlas [tissue]ENSG00000131037-EPS8L1 [tissue]
Peptide AtlasQ8TE68
HPRD13276
IPIIPI00301250   IPI00253281   IPI00157535   IPI00795545   IPI01015233   IPI01019110   
Protein Interaction databases
DIP (DOE-UCLA)Q8TE68
IntAct (EBI)Q8TE68
FunCoupENSG00000131037
BioGRIDEPS8L1
STRING (EMBL)EPS8L1
ZODIACEPS8L1
Ontologies - Pathways
QuickGOQ8TE68
Ontology : AmiGOactin binding  Rho guanyl-nucleotide exchange factor activity  protein binding  cytosol  Rho protein signal transduction  Rac guanyl-nucleotide exchange factor activity  ruffle membrane  regulation of Rho protein signal transduction  T cell receptor binding  protein complex  positive regulation of GTPase activity  cadherin binding  extracellular exosome  positive regulation of ruffle assembly  
Ontology : EGO-EBIactin binding  Rho guanyl-nucleotide exchange factor activity  protein binding  cytosol  Rho protein signal transduction  Rac guanyl-nucleotide exchange factor activity  ruffle membrane  regulation of Rho protein signal transduction  T cell receptor binding  protein complex  positive regulation of GTPase activity  cadherin binding  extracellular exosome  positive regulation of ruffle assembly  
NDEx NetworkEPS8L1
Atlas of Cancer Signalling NetworkEPS8L1
Wikipedia pathwaysEPS8L1
Orthology - Evolution
OrthoDB54869
GeneTree (enSembl)ENSG00000131037
Phylogenetic Trees/Animal Genes : TreeFamEPS8L1
HOVERGENQ8TE68
HOGENOMQ8TE68
Homologs : HomoloGeneEPS8L1
Homology/Alignments : Family Browser (UCSC)EPS8L1
Gene fusions - Rearrangements
Tumor Fusion PortalEPS8L1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEPS8L1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EPS8L1
dbVarEPS8L1
ClinVarEPS8L1
1000_GenomesEPS8L1 
Exome Variant ServerEPS8L1
ExAC (Exome Aggregation Consortium)ENSG00000131037
GNOMAD BrowserENSG00000131037
Genetic variants : HAPMAP54869
Genomic Variants (DGV)EPS8L1 [DGVbeta]
DECIPHEREPS8L1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEPS8L1 
Mutations
ICGC Data PortalEPS8L1 
TCGA Data PortalEPS8L1 
Broad Tumor PortalEPS8L1
OASIS PortalEPS8L1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEPS8L1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEPS8L1
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 EPS8L1
DgiDB (Drug Gene Interaction Database)EPS8L1
DoCM (Curated mutations)EPS8L1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EPS8L1 (select a term)
intoGenEPS8L1
Cancer3DEPS8L1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614987   
Orphanet
DisGeNETEPS8L1
MedgenEPS8L1
Genetic Testing Registry EPS8L1
NextProtQ8TE68 [Medical]
TSGene54869
GENETestsEPS8L1
Target ValidationEPS8L1
Huge Navigator EPS8L1 [HugePedia]
snp3D : Map Gene to Disease54869
BioCentury BCIQEPS8L1
ClinGenEPS8L1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD54869
Chemical/Pharm GKB GenePA134990326
Clinical trialEPS8L1
Miscellaneous
canSAR (ICR)EPS8L1 (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEPS8L1
EVEXEPS8L1
GoPubMedEPS8L1
iHOPEPS8L1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Tue Nov 21 13:38:31 CET 2017

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