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ESPN (espin)

Identity

Alias_namesDFNB36
deafness, autosomal recessive 36
Other aliasLP2654
HGNC (Hugo) ESPN
LocusID (NCBI) 83715
Atlas_Id 62920
Location 1p36.31  [Link to chromosome band 1p36]
Location_base_pair Starts at 6424788 and ends at 6460944 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ESPN (1p36.31) / DDX39B (6p21.33)ESPN (1p36.31) / FBLIM1 (1p36.21)ZBTB48 (1p36.31) / ESPN (1p36.31)

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)ESPN   13281
Cards
Entrez_Gene (NCBI)ESPN  83715  espin
AliasesDFNB36; LP2654
GeneCards (Weizmann)ESPN
Ensembl hg19 (Hinxton)ENSG00000187017 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000187017 [Gene_View]  chr1:6424788-6460944 [Contig_View]  ESPN [Vega]
ICGC DataPortalENSG00000187017
TCGA cBioPortalESPN
AceView (NCBI)ESPN
Genatlas (Paris)ESPN
WikiGenes83715
SOURCE (Princeton)ESPN
Genetics Home Reference (NIH)ESPN
Genomic and cartography
GoldenPath hg38 (UCSC)ESPN  -     chr1:6424788-6460944 +  1p36.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ESPN  -     1p36.31   [Description]    (hg19-Feb_2009)
EnsemblESPN - 1p36.31 [CytoView hg19]  ESPN - 1p36.31 [CytoView hg38]
Mapping of homologs : NCBIESPN [Mapview hg19]  ESPN [Mapview hg38]
OMIM606351   609006   
Gene and transcription
Genbank (Entrez)AF134401 AL136880 AL834172 AY203958 BC156375
RefSeq transcript (Entrez)NM_031475
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ESPN
Cluster EST : UnigeneHs.744222 [ NCBI ]
CGAP (NCI)Hs.744222
Alternative Splicing GalleryENSG00000187017
Gene ExpressionESPN [ NCBI-GEO ]   ESPN [ EBI - ARRAY_EXPRESS ]   ESPN [ SEEK ]   ESPN [ MEM ]
Gene Expression Viewer (FireBrowse)ESPN [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)83715
GTEX Portal (Tissue expression)ESPN
Protein : pattern, domain, 3D structure
UniProt/SwissProtB1AK53   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtB1AK53  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProB1AK53
Splice isoforms : SwissVarB1AK53
PhosPhoSitePlusB1AK53
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)    WH2 (PS51082)   
Domains : Interpro (EBI)Ankyrin_rpt    Ankyrin_rpt-contain_dom    Espn    WH2_dom   
Domain families : Pfam (Sanger)Ank_2 (PF12796)    WH2 (PF02205)   
Domain families : Pfam (NCBI)pfam12796    pfam02205   
Domain families : Smart (EMBL)ANK (SM00248)  WH2 (SM00246)  
Conserved Domain (NCBI)ESPN
DMDM Disease mutations83715
Blocks (Seattle)ESPN
SuperfamilyB1AK53
Human Protein AtlasENSG00000187017
Peptide AtlasB1AK53
HPRD06962
IPIIPI00027820   IPI00642699   IPI00386037   IPI00644706   
Protein Interaction databases
DIP (DOE-UCLA)B1AK53
IntAct (EBI)B1AK53
FunCoupENSG00000187017
BioGRIDESPN
STRING (EMBL)ESPN
ZODIACESPN
Ontologies - Pathways
QuickGOB1AK53
Ontology : AmiGOcytoplasm  microvillus  brush border  sensory perception of sound  locomotory behavior  SH3 domain binding  parallel actin filament bundle assembly  filamentous actin  filamentous actin  stereocilium tip  actin filament binding  actin filament binding  actin filament bundle assembly  positive regulation of filopodium assembly  negative regulation of cytoskeleton organization  
Ontology : EGO-EBIcytoplasm  microvillus  brush border  sensory perception of sound  locomotory behavior  SH3 domain binding  parallel actin filament bundle assembly  filamentous actin  filamentous actin  stereocilium tip  actin filament binding  actin filament binding  actin filament bundle assembly  positive regulation of filopodium assembly  negative regulation of cytoskeleton organization  
NDEx NetworkESPN
Atlas of Cancer Signalling NetworkESPN
Wikipedia pathwaysESPN
Orthology - Evolution
OrthoDB83715
GeneTree (enSembl)ENSG00000187017
Phylogenetic Trees/Animal Genes : TreeFamESPN
HOVERGENB1AK53
HOGENOMB1AK53
Homologs : HomoloGeneESPN
Homology/Alignments : Family Browser (UCSC)ESPN
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerESPN [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ESPN
dbVarESPN
ClinVarESPN
1000_GenomesESPN 
Exome Variant ServerESPN
ExAC (Exome Aggregation Consortium)ESPN (select the gene name)
Genetic variants : HAPMAP83715
Genomic Variants (DGV)ESPN [DGVbeta]
DECIPHERESPN [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisESPN 
Mutations
ICGC Data PortalESPN 
TCGA Data PortalESPN 
Broad Tumor PortalESPN
OASIS PortalESPN [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICESPN  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDESPN
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 ESPN
DgiDB (Drug Gene Interaction Database)ESPN
DoCM (Curated mutations)ESPN (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ESPN (select a term)
intoGenESPN
Cancer3DESPN(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606351    609006   
Orphanet12047   
MedgenESPN
Genetic Testing Registry ESPN
NextProtB1AK53 [Medical]
TSGene83715
GENETestsESPN
Target ValidationESPN
Huge Navigator ESPN [HugePedia]
snp3D : Map Gene to Disease83715
BioCentury BCIQESPN
ClinGenESPN
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD83715
Chemical/Pharm GKB GenePA27885
Clinical trialESPN
Miscellaneous
canSAR (ICR)ESPN (select the gene name)
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineESPN
EVEXESPN
GoPubMedESPN
iHOPESPN
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:07:21 CEST 2017

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