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ELSPBP1 (epididymal sperm binding protein 1)

Identity

Alias_symbol (synonym)HE12
E12
EDDM12
Other aliasEL149
HGNC (Hugo) ELSPBP1
LocusID (NCBI) 64100
Atlas_Id 62808
Location 19q13.33  [Link to chromosome band 19q13]
Location_base_pair Starts at 47994651 and ends at 48025153 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
SYMPK (19q13.32) / ELSPBP1 (19q13.33)ZNF460 (19q13.43) / ELSPBP1 (19q13.33)

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)ELSPBP1   14417
Cards
Entrez_Gene (NCBI)ELSPBP1  64100  epididymal sperm binding protein 1
AliasesE12; EDDM12; EL149; HE12
GeneCards (Weizmann)ELSPBP1
Ensembl hg19 (Hinxton)ENSG00000169393 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000169393 [Gene_View]  chr19:47994651-48025153 [Contig_View]  ELSPBP1 [Vega]
ICGC DataPortalENSG00000169393
TCGA cBioPortalELSPBP1
AceView (NCBI)ELSPBP1
Genatlas (Paris)ELSPBP1
WikiGenes64100
SOURCE (Princeton)ELSPBP1
Genetics Home Reference (NIH)ELSPBP1
Genomic and cartography
GoldenPath hg38 (UCSC)ELSPBP1  -     chr19:47994651-48025153 +  19q13.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ELSPBP1  -     19q13.33   [Description]    (hg19-Feb_2009)
EnsemblELSPBP1 - 19q13.33 [CytoView hg19]  ELSPBP1 - 19q13.33 [CytoView hg38]
Mapping of homologs : NCBIELSPBP1 [Mapview hg19]  ELSPBP1 [Mapview hg38]
OMIM607443   
Gene and transcription
Genbank (Entrez)AF279147 AJ278478 BC015598 BM661759 BM663735
RefSeq transcript (Entrez)NM_022142
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ELSPBP1
Cluster EST : UnigeneHs.104894 [ NCBI ]
CGAP (NCI)Hs.104894
Alternative Splicing GalleryENSG00000169393
Gene ExpressionELSPBP1 [ NCBI-GEO ]   ELSPBP1 [ EBI - ARRAY_EXPRESS ]   ELSPBP1 [ SEEK ]   ELSPBP1 [ MEM ]
Gene Expression Viewer (FireBrowse)ELSPBP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)64100
GTEX Portal (Tissue expression)ELSPBP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96BH3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96BH3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96BH3
Splice isoforms : SwissVarQ96BH3
PhosPhoSitePlusQ96BH3
Domaine pattern : Prosite (Expaxy)FN2_1 (PS00023)    FN2_2 (PS51092)   
Domains : Interpro (EBI)FN_type2_col-bd    Kringle-like   
Domain families : Pfam (Sanger)fn2 (PF00040)   
Domain families : Pfam (NCBI)pfam00040   
Domain families : Smart (EMBL)FN2 (SM00059)  
Conserved Domain (NCBI)ELSPBP1
DMDM Disease mutations64100
Blocks (Seattle)ELSPBP1
SuperfamilyQ96BH3
Human Protein AtlasENSG00000169393
Peptide AtlasQ96BH3
HPRD12119
IPIIPI00059948   
Protein Interaction databases
DIP (DOE-UCLA)Q96BH3
IntAct (EBI)Q96BH3
FunCoupENSG00000169393
BioGRIDELSPBP1
STRING (EMBL)ELSPBP1
ZODIACELSPBP1
Ontologies - Pathways
QuickGOQ96BH3
Ontology : AmiGOextracellular region  single fertilization  heparin binding  cell surface  sperm capacitation  
Ontology : EGO-EBIextracellular region  single fertilization  heparin binding  cell surface  sperm capacitation  
Pathways : BIOCARTANFAT and Hypertrophy of the heart (Transcription in the broken heart) [Genes]   
NDEx NetworkELSPBP1
Atlas of Cancer Signalling NetworkELSPBP1
Wikipedia pathwaysELSPBP1
Orthology - Evolution
OrthoDB64100
GeneTree (enSembl)ENSG00000169393
Phylogenetic Trees/Animal Genes : TreeFamELSPBP1
HOVERGENQ96BH3
HOGENOMQ96BH3
Homologs : HomoloGeneELSPBP1
Homology/Alignments : Family Browser (UCSC)ELSPBP1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerELSPBP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ELSPBP1
dbVarELSPBP1
ClinVarELSPBP1
1000_GenomesELSPBP1 
Exome Variant ServerELSPBP1
ExAC (Exome Aggregation Consortium)ELSPBP1 (select the gene name)
Genetic variants : HAPMAP64100
Genomic Variants (DGV)ELSPBP1 [DGVbeta]
DECIPHERELSPBP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisELSPBP1 
Mutations
ICGC Data PortalELSPBP1 
TCGA Data PortalELSPBP1 
Broad Tumor PortalELSPBP1
OASIS PortalELSPBP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICELSPBP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDELSPBP1
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 ELSPBP1
DgiDB (Drug Gene Interaction Database)ELSPBP1
DoCM (Curated mutations)ELSPBP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ELSPBP1 (select a term)
intoGenELSPBP1
Cancer3DELSPBP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607443   
Orphanet
MedgenELSPBP1
Genetic Testing Registry ELSPBP1
NextProtQ96BH3 [Medical]
TSGene64100
GENETestsELSPBP1
Target ValidationELSPBP1
Huge Navigator ELSPBP1 [HugePedia]
snp3D : Map Gene to Disease64100
BioCentury BCIQELSPBP1
ClinGenELSPBP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD64100
Chemical/Pharm GKB GenePA27765
Clinical trialELSPBP1
Miscellaneous
canSAR (ICR)ELSPBP1 (select the gene name)
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineELSPBP1
EVEXELSPBP1
GoPubMedELSPBP1
iHOPELSPBP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 16:14:15 CEST 2017

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