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OSGEPL1 (O-sialoglycoprotein endopeptidase like 1)

Identity

Alias_namesO-sialoglycoprotein endopeptidase-like 1
Alias_symbol (synonym)Qri7
OSGEPL
Other alias
HGNC (Hugo) OSGEPL1
LocusID (NCBI) 64172
Atlas_Id 71561
Location 2q32.2  [Link to chromosome band 2q32]
Location_base_pair Starts at 189746660 and ends at 189763198 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
OSGEPL1 (2q32.2) / OSGEPL1 (2q32.2)

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)OSGEPL1   23075
Cards
Entrez_Gene (NCBI)OSGEPL1  64172  O-sialoglycoprotein endopeptidase like 1
AliasesOSGEPL; Qri7
GeneCards (Weizmann)OSGEPL1
Ensembl hg19 (Hinxton)ENSG00000128694 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000128694 [Gene_View]  chr2:189746660-189763198 [Contig_View]  OSGEPL1 [Vega]
ICGC DataPortalENSG00000128694
TCGA cBioPortalOSGEPL1
AceView (NCBI)OSGEPL1
Genatlas (Paris)OSGEPL1
WikiGenes64172
SOURCE (Princeton)OSGEPL1
Genetics Home Reference (NIH)OSGEPL1
Genomic and cartography
GoldenPath hg38 (UCSC)OSGEPL1  -     chr2:189746660-189763198 -  2q32.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)OSGEPL1  -     2q32.2   [Description]    (hg19-Feb_2009)
EnsemblOSGEPL1 - 2q32.2 [CytoView hg19]  OSGEPL1 - 2q32.2 [CytoView hg38]
Mapping of homologs : NCBIOSGEPL1 [Mapview hg19]  OSGEPL1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AJ295148 AK055441 AK294841 AK314565 BC011904
RefSeq transcript (Entrez)NM_022353
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)OSGEPL1
Cluster EST : UnigeneHs.60772 [ NCBI ]
CGAP (NCI)Hs.60772
Alternative Splicing GalleryENSG00000128694
Gene ExpressionOSGEPL1 [ NCBI-GEO ]   OSGEPL1 [ EBI - ARRAY_EXPRESS ]   OSGEPL1 [ SEEK ]   OSGEPL1 [ MEM ]
Gene Expression Viewer (FireBrowse)OSGEPL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)64172
GTEX Portal (Tissue expression)OSGEPL1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H4B0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H4B0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H4B0
Splice isoforms : SwissVarQ9H4B0
PhosPhoSitePlusQ9H4B0
Domains : Interpro (EBI)Gcp-like_dom    KAE1/TsaD    TsaD   
Domain families : Pfam (Sanger)Peptidase_M22 (PF00814)   
Domain families : Pfam (NCBI)pfam00814   
Conserved Domain (NCBI)OSGEPL1
DMDM Disease mutations64172
Blocks (Seattle)OSGEPL1
SuperfamilyQ9H4B0
Human Protein AtlasENSG00000128694
Peptide AtlasQ9H4B0
HPRD07026
IPIIPI00869148   IPI00868984   IPI00007110   IPI00978375   IPI00979069   IPI00982796   
Protein Interaction databases
DIP (DOE-UCLA)Q9H4B0
IntAct (EBI)Q9H4B0
FunCoupENSG00000128694
BioGRIDOSGEPL1
STRING (EMBL)OSGEPL1
ZODIACOSGEPL1
Ontologies - Pathways
QuickGOQ9H4B0
Ontology : AmiGOEKC/KEOPS complex  tRNA threonylcarbamoyladenosine modification  metalloendopeptidase activity  mitochondrion  proteolysis  metal ion binding  N(6)-L-threonylcarbamoyladenine synthase  
Ontology : EGO-EBIEKC/KEOPS complex  tRNA threonylcarbamoyladenosine modification  metalloendopeptidase activity  mitochondrion  proteolysis  metal ion binding  N(6)-L-threonylcarbamoyladenine synthase  
NDEx NetworkOSGEPL1
Atlas of Cancer Signalling NetworkOSGEPL1
Wikipedia pathwaysOSGEPL1
Orthology - Evolution
OrthoDB64172
GeneTree (enSembl)ENSG00000128694
Phylogenetic Trees/Animal Genes : TreeFamOSGEPL1
HOVERGENQ9H4B0
HOGENOMQ9H4B0
Homologs : HomoloGeneOSGEPL1
Homology/Alignments : Family Browser (UCSC)OSGEPL1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerOSGEPL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)OSGEPL1
dbVarOSGEPL1
ClinVarOSGEPL1
1000_GenomesOSGEPL1 
Exome Variant ServerOSGEPL1
ExAC (Exome Aggregation Consortium)OSGEPL1 (select the gene name)
Genetic variants : HAPMAP64172
Genomic Variants (DGV)OSGEPL1 [DGVbeta]
DECIPHEROSGEPL1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisOSGEPL1 
Mutations
ICGC Data PortalOSGEPL1 
TCGA Data PortalOSGEPL1 
Broad Tumor PortalOSGEPL1
OASIS PortalOSGEPL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICOSGEPL1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDOSGEPL1
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
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch OSGEPL1
DgiDB (Drug Gene Interaction Database)OSGEPL1
DoCM (Curated mutations)OSGEPL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)OSGEPL1 (select a term)
intoGenOSGEPL1
Cancer3DOSGEPL1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenOSGEPL1
Genetic Testing Registry OSGEPL1
NextProtQ9H4B0 [Medical]
TSGene64172
GENETestsOSGEPL1
Target ValidationOSGEPL1
Huge Navigator OSGEPL1 [HugePedia]
snp3D : Map Gene to Disease64172
BioCentury BCIQOSGEPL1
ClinGenOSGEPL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD64172
Chemical/Pharm GKB GenePA134959704
Clinical trialOSGEPL1
Miscellaneous
canSAR (ICR)OSGEPL1 (select the gene name)
Probes
Litterature
PubMed6 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineOSGEPL1
EVEXOSGEPL1
GoPubMedOSGEPL1
iHOPOSGEPL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed May 31 15:35:13 CEST 2017

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