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EBPL (emopamil binding protein like)

Identity

Alias_namesemopamil binding protein-like
Alias_symbol (synonym)EBRP
Other alias
HGNC (Hugo) EBPL
LocusID (NCBI) 84650
Atlas_Id 62710
Location 13q14.2  [Link to chromosome band 13q14]
Location_base_pair Starts at 49660676 and ends at 49691487 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)
EBPL (13q14.2) / COL1A2 (7q21.3)EBPL (13q14.2) / KPNA3 (13q14.2)EBPL (13q14.2) / LPAR6 (13q14.2)

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)EBPL   18061
Cards
Entrez_Gene (NCBI)EBPL  84650  emopamil binding protein like
AliasesEBRP
GeneCards (Weizmann)EBPL
Ensembl hg19 (Hinxton)ENSG00000123179 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000123179 [Gene_View]  chr13:49660676-49691487 [Contig_View]  EBPL [Vega]
ICGC DataPortalENSG00000123179
TCGA cBioPortalEBPL
AceView (NCBI)EBPL
Genatlas (Paris)EBPL
WikiGenes84650
SOURCE (Princeton)EBPL
Genetics Home Reference (NIH)EBPL
Genomic and cartography
GoldenPath hg38 (UCSC)EBPL  -     chr13:49660676-49691487 -  13q14.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EBPL  -     13q14.2   [Description]    (hg19-Feb_2009)
EnsemblEBPL - 13q14.2 [CytoView hg19]  EBPL - 13q14.2 [CytoView hg38]
Mapping of homologs : NCBIEBPL [Mapview hg19]  EBPL [Mapview hg38]
OMIM617335   
Gene and transcription
Genbank (Entrez)AA677833 AF243433 BC018478 BC021021 BC073152
RefSeq transcript (Entrez)NM_001278636 NM_032565
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EBPL
Cluster EST : UnigeneHs.433278 [ NCBI ]
CGAP (NCI)Hs.433278
Alternative Splicing GalleryENSG00000123179
Gene ExpressionEBPL [ NCBI-GEO ]   EBPL [ EBI - ARRAY_EXPRESS ]   EBPL [ SEEK ]   EBPL [ MEM ]
Gene Expression Viewer (FireBrowse)EBPL [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84650
GTEX Portal (Tissue expression)EBPL
Human Protein AtlasENSG00000123179-EBPL [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BY08   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BY08  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BY08
Splice isoforms : SwissVarQ9BY08
PhosPhoSitePlusQ9BY08
Domaine pattern : Prosite (Expaxy)EXPERA (PS51751)   
Domains : Interpro (EBI)EBP    EXPERA   
Domain families : Pfam (Sanger)EBP (PF05241)   
Domain families : Pfam (NCBI)pfam05241   
Conserved Domain (NCBI)EBPL
DMDM Disease mutations84650
Blocks (Seattle)EBPL
SuperfamilyQ9BY08
Human Protein Atlas [tissue]ENSG00000123179-EBPL [tissue]
Peptide AtlasQ9BY08
HPRD13258
IPIIPI00000247   IPI00552974   IPI00552554   IPI00552966   IPI00553097   IPI00431458   
Protein Interaction databases
DIP (DOE-UCLA)Q9BY08
IntAct (EBI)Q9BY08
FunCoupENSG00000123179
BioGRIDEBPL
STRING (EMBL)EBPL
ZODIACEBPL
Ontologies - Pathways
QuickGOQ9BY08
Ontology : AmiGOendoplasmic reticulum  endoplasmic reticulum membrane  integral component of membrane  sterol metabolic process  cholestenol delta-isomerase activity  
Ontology : EGO-EBIendoplasmic reticulum  endoplasmic reticulum membrane  integral component of membrane  sterol metabolic process  cholestenol delta-isomerase activity  
NDEx NetworkEBPL
Atlas of Cancer Signalling NetworkEBPL
Wikipedia pathwaysEBPL
Orthology - Evolution
OrthoDB84650
GeneTree (enSembl)ENSG00000123179
Phylogenetic Trees/Animal Genes : TreeFamEBPL
HOVERGENQ9BY08
HOGENOMQ9BY08
Homologs : HomoloGeneEBPL
Homology/Alignments : Family Browser (UCSC)EBPL
Gene fusions - Rearrangements
Tumor Fusion PortalEBPL
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEBPL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EBPL
dbVarEBPL
ClinVarEBPL
1000_GenomesEBPL 
Exome Variant ServerEBPL
ExAC (Exome Aggregation Consortium)ENSG00000123179
GNOMAD BrowserENSG00000123179
Genetic variants : HAPMAP84650
Genomic Variants (DGV)EBPL [DGVbeta]
DECIPHEREBPL [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEBPL 
Mutations
ICGC Data PortalEBPL 
TCGA Data PortalEBPL 
Broad Tumor PortalEBPL
OASIS PortalEBPL [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEBPL  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEBPL
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch EBPL
DgiDB (Drug Gene Interaction Database)EBPL
DoCM (Curated mutations)EBPL (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EBPL (select a term)
intoGenEBPL
Cancer3DEBPL(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM617335   
Orphanet
DisGeNETEBPL
MedgenEBPL
Genetic Testing Registry EBPL
NextProtQ9BY08 [Medical]
TSGene84650
GENETestsEBPL
Target ValidationEBPL
Huge Navigator EBPL [HugePedia]
snp3D : Map Gene to Disease84650
BioCentury BCIQEBPL
ClinGenEBPL
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84650
Chemical/Pharm GKB GenePA134875632
Clinical trialEBPL
Miscellaneous
canSAR (ICR)EBPL (select the gene name)
Probes
Litterature
PubMed7 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEBPL
EVEXEBPL
GoPubMedEBPL
iHOPEBPL
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 13:27:57 CET 2017

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