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ESPNL (espin-like)

Identity

Alias_symbol (synonym)FLJ42568
Other alias-
HGNC (Hugo) ESPNL
LocusID (NCBI) 339768
Atlas_Id 62921
Location 2q37.3  [Link to chromosome band 2q37]
Location_base_pair Starts at 238127390 and ends at 238133287 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)

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)ESPNL   27937
Cards
Entrez_Gene (NCBI)ESPNL  339768  espin-like
Aliases
GeneCards (Weizmann)ESPNL
Ensembl hg19 (Hinxton)ENSG00000144488 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000144488 [Gene_View]  chr2:238127390-238133287 [Contig_View]  ESPNL [Vega]
ICGC DataPortalENSG00000144488
TCGA cBioPortalESPNL
AceView (NCBI)ESPNL
Genatlas (Paris)ESPNL
WikiGenes339768
SOURCE (Princeton)ESPNL
Genetics Home Reference (NIH)ESPNL
Genomic and cartography
GoldenPath hg38 (UCSC)ESPNL  -     chr2:238127390-238133287 +  2q37.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ESPNL  -     2q37.3   [Description]    (hg19-Feb_2009)
EnsemblESPNL - 2q37.3 [CytoView hg19]  ESPNL - 2q37.3 [CytoView hg38]
Mapping of homologs : NCBIESPNL [Mapview hg19]  ESPNL [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK124559 AK124612 AK128187 AY358157 BC042051
RefSeq transcript (Entrez)NM_001308370 NM_194312
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ESPNL
Cluster EST : UnigeneHs.127724 [ NCBI ]
CGAP (NCI)Hs.127724
Alternative Splicing GalleryENSG00000144488
Gene ExpressionESPNL [ NCBI-GEO ]   ESPNL [ EBI - ARRAY_EXPRESS ]   ESPNL [ SEEK ]   ESPNL [ MEM ]
Gene Expression Viewer (FireBrowse)ESPNL [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)339768
GTEX Portal (Tissue expression)ESPNL
Human Protein AtlasENSG00000144488-ESPNL [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6ZVH7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6ZVH7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6ZVH7
Splice isoforms : SwissVarQ6ZVH7
PhosPhoSitePlusQ6ZVH7
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)   
Domains : Interpro (EBI)Ankyrin_rpt    Ankyrin_rpt-contain_dom   
Domain families : Pfam (Sanger)Ank_2 (PF12796)   
Domain families : Pfam (NCBI)pfam12796   
Domain families : Smart (EMBL)ANK (SM00248)  
Conserved Domain (NCBI)ESPNL
DMDM Disease mutations339768
Blocks (Seattle)ESPNL
SuperfamilyQ6ZVH7
Human Protein Atlas [tissue]ENSG00000144488-ESPNL [tissue]
Peptide AtlasQ6ZVH7
HPRD14170
IPIIPI00375592   IPI00877170   IPI00877153   IPI00432770   IPI00917704   
Protein Interaction databases
DIP (DOE-UCLA)Q6ZVH7
IntAct (EBI)Q6ZVH7
FunCoupENSG00000144488
BioGRIDESPNL
STRING (EMBL)ESPNL
ZODIACESPNL
Ontologies - Pathways
QuickGOQ6ZVH7
Ontology : AmiGOcytoplasm  filamentous actin  actin filament binding  actin filament bundle assembly  
Ontology : EGO-EBIcytoplasm  filamentous actin  actin filament binding  actin filament bundle assembly  
NDEx NetworkESPNL
Atlas of Cancer Signalling NetworkESPNL
Wikipedia pathwaysESPNL
Orthology - Evolution
OrthoDB339768
GeneTree (enSembl)ENSG00000144488
Phylogenetic Trees/Animal Genes : TreeFamESPNL
HOVERGENQ6ZVH7
HOGENOMQ6ZVH7
Homologs : HomoloGeneESPNL
Homology/Alignments : Family Browser (UCSC)ESPNL
Gene fusions - Rearrangements
Tumor Fusion PortalESPNL
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerESPNL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ESPNL
dbVarESPNL
ClinVarESPNL
1000_GenomesESPNL 
Exome Variant ServerESPNL
ExAC (Exome Aggregation Consortium)ENSG00000144488
GNOMAD BrowserENSG00000144488
Genetic variants : HAPMAP339768
Genomic Variants (DGV)ESPNL [DGVbeta]
DECIPHERESPNL [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisESPNL 
Mutations
ICGC Data PortalESPNL 
TCGA Data PortalESPNL 
Broad Tumor PortalESPNL
OASIS PortalESPNL [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICESPNL  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDESPNL
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 ESPNL
DgiDB (Drug Gene Interaction Database)ESPNL
DoCM (Curated mutations)ESPNL (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ESPNL (select a term)
intoGenESPNL
Cancer3DESPNL(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETESPNL
MedgenESPNL
Genetic Testing Registry ESPNL
NextProtQ6ZVH7 [Medical]
TSGene339768
GENETestsESPNL
Target ValidationESPNL
Huge Navigator ESPNL [HugePedia]
snp3D : Map Gene to Disease339768
BioCentury BCIQESPNL
ClinGenESPNL
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD339768
Chemical/Pharm GKB GenePA162385421
Clinical trialESPNL
Miscellaneous
canSAR (ICR)ESPNL (select the gene name)
Probes
Litterature
PubMed2 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineESPNL
EVEXESPNL
GoPubMedESPNL
iHOPESPNL
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Nov 20 19:28:01 CET 2017

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