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OS9 (OS9, endoplasmic reticulum lectin)

Identity

Alias_namesosteosarcoma amplified 9
Alias_symbol (synonym)OS-9
ERLEC2
Other alias
HGNC (Hugo) OS9
LocusID (NCBI) 10956
Atlas_Id 41614
Location 12q13.3  [Link to chromosome band 12q13]
Location_base_pair Starts at 57693955 and ends at 57721557 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)
ATP5I (4p16.3) / OS9 (12q13.3)FRS2 (12q15) / OS9 (12q13.3)OS9 (12q13.3) / C12orf66 (12q14.2)
OS9 (12q13.3) / HDLBP (2q37.3)OS9 (12q13.3) / KIF5A (12q13.3)OS9 (12q13.3) / MYH9 (22q12.3)
OS9 (12q13.3) / NELFB (9q34.3)OS9 (12q13.3) / OS9 (12q13.3)OS9 (12q13.3) / SPRYD3 (12q13.13)
SEPT5 (22q11.21) / OS9 (12q13.3)SLC35E3 (12q15) / OS9 (12q13.3)TBK1 (12q14.2) / OS9 (12q13.3)
UTRN (6q24.2) / OS9 (12q13.3)FRS2 12q15 / OS9 12q13.3OS9 12q13.3 / C12orf66 12q14.2
OS9 12q13.3 / HDLBP 2q37.3OS9 12q13.3 / KIF5A 12q13.3SLC35E3 12q15 / OS9 12q13.3

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 5 ]
  t(2;12)(q37;q13) OS9/HDLBP
UTRN/OS9 ()
OS9/KIF5A (12q13)
t(12;12)(q13;q15) FRS2/OS9
t(12;12)(q13;q15) SLC35E3/OS9


External links

Nomenclature
HGNC (Hugo)OS9   16994
Cards
Entrez_Gene (NCBI)OS9  10956  OS9, endoplasmic reticulum lectin
AliasesERLEC2; OS-9
GeneCards (Weizmann)OS9
Ensembl hg19 (Hinxton)ENSG00000135506 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000135506 [Gene_View]  ENSG00000135506 [Sequence]  chr12:57693955-57721557 [Contig_View]  OS9 [Vega]
ICGC DataPortalENSG00000135506
TCGA cBioPortalOS9
AceView (NCBI)OS9
Genatlas (Paris)OS9
WikiGenes10956
SOURCE (Princeton)OS9
Genetics Home Reference (NIH)OS9
Genomic and cartography
GoldenPath hg38 (UCSC)OS9  -     chr12:57693955-57721557 +  12q13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)OS9  -     12q13.3   [Description]    (hg19-Feb_2009)
EnsemblOS9 - 12q13.3 [CytoView hg19]  OS9 - 12q13.3 [CytoView hg38]
Mapping of homologs : NCBIOS9 [Mapview hg19]  OS9 [Mapview hg38]
OMIM609677   
Gene and transcription
Genbank (Entrez)AB002806 AK129781 AK130733 AK291374 AK293435
RefSeq transcript (Entrez)NM_001017956 NM_001017957 NM_001017958 NM_001261420 NM_001261421 NM_001261422 NM_001261423 NM_006812
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)OS9
Cluster EST : UnigeneHs.527861 [ NCBI ]
CGAP (NCI)Hs.527861
Alternative Splicing GalleryENSG00000135506
Gene ExpressionOS9 [ NCBI-GEO ]   OS9 [ EBI - ARRAY_EXPRESS ]   OS9 [ SEEK ]   OS9 [ MEM ]
Gene Expression Viewer (FireBrowse)OS9 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10956
GTEX Portal (Tissue expression)OS9
Human Protein AtlasENSG00000135506-OS9 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13438   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13438  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13438
Splice isoforms : SwissVarQ13438
PhosPhoSitePlusQ13438
Domains : Interpro (EBI)Man6P_isomerase_rcpt-bd_dom_sf    OS9-like   
Domain families : Pfam (Sanger)PRKCSH (PF07915)   
Domain families : Pfam (NCBI)pfam07915   
Conserved Domain (NCBI)OS9
DMDM Disease mutations10956
Blocks (Seattle)OS9
PDB (SRS)3AIH   
PDB (PDBSum)3AIH   
PDB (IMB)3AIH   
PDB (RSDB)3AIH   
Structural Biology KnowledgeBase3AIH   
SCOP (Structural Classification of Proteins)3AIH   
CATH (Classification of proteins structures)3AIH   
SuperfamilyQ13438
Human Protein Atlas [tissue]ENSG00000135506-OS9 [tissue]
Peptide AtlasQ13438
HPRD17804
IPIIPI00329760   IPI00398855   IPI00793206   IPI00784387   IPI01009527   IPI00873981   IPI01021633   IPI01021849   IPI01022182   IPI01022322   IPI00791882   IPI01022033   IPI00186581   IPI01008880   IPI00604451   
Protein Interaction databases
DIP (DOE-UCLA)Q13438
IntAct (EBI)Q13438
FunCoupENSG00000135506
BioGRIDOS9
STRING (EMBL)OS9
ZODIACOS9
Ontologies - Pathways
QuickGOQ13438
Ontology : AmiGOHrd1p ubiquitin ligase complex  Hrd1p ubiquitin ligase complex  protease binding  protein binding  protein binding  endoplasmic reticulum  endoplasmic reticulum lumen  endoplasmic reticulum lumen  endoplasmic reticulum membrane  ubiquitin-dependent protein catabolic process  protein targeting  protein retention in ER lumen  protein ubiquitination  carbohydrate binding  ubiquitin-dependent ERAD pathway  ubiquitin-dependent ERAD pathway  retrograde protein transport, ER to cytosol  response to endoplasmic reticulum stress  endoplasmic reticulum quality control compartment  transmembrane transport  negative regulation of retrograde protein transport, ER to cytosol  endoplasmic reticulum mannose trimming  
Ontology : EGO-EBIHrd1p ubiquitin ligase complex  Hrd1p ubiquitin ligase complex  protease binding  protein binding  protein binding  endoplasmic reticulum  endoplasmic reticulum lumen  endoplasmic reticulum lumen  endoplasmic reticulum membrane  ubiquitin-dependent protein catabolic process  protein targeting  protein retention in ER lumen  protein ubiquitination  carbohydrate binding  ubiquitin-dependent ERAD pathway  ubiquitin-dependent ERAD pathway  retrograde protein transport, ER to cytosol  response to endoplasmic reticulum stress  endoplasmic reticulum quality control compartment  transmembrane transport  negative regulation of retrograde protein transport, ER to cytosol  endoplasmic reticulum mannose trimming  
Pathways : KEGGProtein processing in endoplasmic reticulum   
NDEx NetworkOS9
Atlas of Cancer Signalling NetworkOS9
Wikipedia pathwaysOS9
Orthology - Evolution
OrthoDB10956
GeneTree (enSembl)ENSG00000135506
Phylogenetic Trees/Animal Genes : TreeFamOS9
HOVERGENQ13438
HOGENOMQ13438
Homologs : HomoloGeneOS9
Homology/Alignments : Family Browser (UCSC)OS9
Gene fusions - Rearrangements
Fusion PortalFRS2 12q15 OS9 12q13.3 LUAD
Fusion PortalOS9 12q13.3 C12orf66 12q14.2 GBM
Fusion PortalOS9 12q13.3 HDLBP 2q37.3 PRAD
Fusion PortalOS9 12q13.3 KIF5A 12q13.3 GBM
Fusion PortalSLC35E3 12q15 OS9 12q13.3 GBM
Fusion : QuiverOS9
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerOS9 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)OS9
dbVarOS9
ClinVarOS9
1000_GenomesOS9 
Exome Variant ServerOS9
ExAC (Exome Aggregation Consortium)ENSG00000135506
GNOMAD BrowserENSG00000135506
Varsome BrowserOS9
Genetic variants : HAPMAP10956
Genomic Variants (DGV)OS9 [DGVbeta]
DECIPHEROS9 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisOS9 
Mutations
ICGC Data PortalOS9 
TCGA Data PortalOS9 
Broad Tumor PortalOS9
OASIS PortalOS9 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICOS9  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDOS9
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 OS9
DgiDB (Drug Gene Interaction Database)OS9
DoCM (Curated mutations)OS9 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)OS9 (select a term)
intoGenOS9
Cancer3DOS9(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609677   
Orphanet
DisGeNETOS9
MedgenOS9
Genetic Testing Registry OS9
NextProtQ13438 [Medical]
TSGene10956
GENETestsOS9
Target ValidationOS9
Huge Navigator OS9 [HugePedia]
snp3D : Map Gene to Disease10956
BioCentury BCIQOS9
ClinGenOS9
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10956
Chemical/Pharm GKB GenePA164724245
Clinical trialOS9
Miscellaneous
canSAR (ICR)OS9 (select the gene name)
Probes
Litterature
PubMed68 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineOS9
EVEXOS9
GoPubMedOS9
iHOPOS9
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 6 11:27:54 CET 2018

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