OSBPL1A (oxysterol binding protein like 1A)

1. Identity

Alias_names
General Information
oxysterol binding protein-like 1B
oxysterol binding protein-like 1A
Alias_symbol (synonym)ORP-1
ORP1
Other alias
HGNC (Hugo) OSBPL1A
LocusID (NCBI) 114876
Atlas_Id 71551
Location 18q11.2  [Link to chromosome band 18q11]
Location_base_pair Starts at 24162046 and ends at 24311506 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)
HTN3 (4q13.3) / OSBPL1A (18q11.2)MBP (18q23) / OSBPL1A (18q11.2)NPC1 (18q11.2) / OSBPL1A (18q11.2)
OSBPL1A (18q11.2) / LETM2 (8p11.23)OSBPL1A (18q11.2) / RIOK3 (18q11.2)OSBPL1A (18q11.2) / RPS18 (6p21.32)
UHRF1BP1 (6p21.31) / OSBPL1A (18q11.2)OSBPL1A LETM2OSBPL1A RIOK3

2. DNA/RNA

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 4 ]
  t(6;18)(p21;q11) UHRF1BP1/OSBPL1A
t(8;18)(p11;q11) OSBPL1A/LETM2
t(18;18)(q11;q11) OSBPL1A/RIOK3
t(18;18)(q11;q11) NPC1/OSBPL1A

3. External links

Nomenclature
HGNC (Hugo)OSBPL1A   16398
Cards
Entrez_Gene (NCBI)OSBPL1A  114876  oxysterol binding protein like 1A
AliasesORP-1; ORP1; OSBPL1B
GeneCards (Weizmann)OSBPL1A
Ensembl hg19 (Hinxton)ENSG00000141447 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000141447 [Gene_View] &nbspENSG00000141447 [Sequence]  chr18:24162046-24311506 [Contig_View]  OSBPL1A [Vega]
ICGC DataPortalENSG00000141447
TCGA cBioPortalOSBPL1A
AceView (NCBI)OSBPL1A
Genatlas (Paris)OSBPL1A
WikiGenes114876
SOURCE (Princeton)OSBPL1A
Genetics Home Reference (NIH)OSBPL1A
Genomic and cartography
GoldenPath hg38 (UCSC)OSBPL1A  -     chr18:24162046-24311506 -  18q11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)OSBPL1A  -     18q11.2   [Description]    (hg19-Feb_2009)
EnsemblOSBPL1A - 18q11.2 [CytoView hg19]  OSBPL1A - 18q11.2 [CytoView hg38]
Mapping of homologs : NCBIOSBPL1A [Mapview hg19]  OSBPL1A [Mapview hg38]
OMIM606730   
Gene and transcription
Genbank (Entrez)AF274714 AF323726 AF392449 AF392450 AK001079
RefSeq transcript (Entrez)NM_001242508 NM_018030 NM_080597 NM_133268
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)OSBPL1A
Cluster EST : UnigeneHs.370725 [ NCBI ]
CGAP (NCI)Hs.370725
Alternative Splicing GalleryENSG00000141447
Gene ExpressionOSBPL1A [ NCBI-GEO ]   OSBPL1A [ EBI - ARRAY_EXPRESS ]   OSBPL1A [ SEEK ]   OSBPL1A [ MEM ]
Gene Expression Viewer (FireBrowse)OSBPL1A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets] &nbsp [Normal Tissue Atlas] &nbsp[carcinoma Classsification] &nbsp[NCI60]
GenevestigatorExpression in : [tissues] &nbsp[cell-lines] &nbsp[cancer] &nbsp[perturbations] &nbsp
BioGPS (Tissue expression)114876
GTEX Portal (Tissue expression)OSBPL1A
Human Protein AtlasENSG00000141447-OSBPL1A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BXW6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BXW6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BXW6
Splice isoforms : SwissVarQ9BXW6
PhosPhoSitePlusQ9BXW6
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)    OSBP (PS01013)    PH_DOMAIN (PS50003)   
Domains : Interpro (EBI)Ankyrin_rpt    Ankyrin_rpt-contain_dom    Oxysterol-bd    Oxysterol-bd_CS    PH_dom-like    PH_domain   
Domain families : Pfam (Sanger)Ank_2 (PF12796)    Oxysterol_BP (PF01237)   
Domain families : Pfam (NCBI)pfam12796    pfam01237   
Domain families : Smart (EMBL)ANK (SM00248)  PH (SM00233)  
Conserved Domain (NCBI)OSBPL1A
DMDM Disease mutations114876
Blocks (Seattle)OSBPL1A
SuperfamilyQ9BXW6
Human Protein Atlas [tissue]ENSG00000141447-OSBPL1A [tissue]
Peptide AtlasQ9BXW6
HPRD09472
IPIIPI00075080   IPI00219941   IPI00233796   IPI00644784   IPI00383451   
Protein Interaction databases
DIP (DOE-UCLA)Q9BXW6
IntAct (EBI)Q9BXW6
FunCoupENSG00000141447
BioGRIDOSBPL1A
STRING (EMBL)OSBPL1A
ZODIACOSBPL1A
Ontologies - Pathways
QuickGOQ9BXW6
Ontology : AmiGO###############################################################################################################################################################################################################################################################                        
Ontology : EGO-EBI###############################################################################################################################################################################################################################################################                        
NDEx NetworkOSBPL1A
Atlas of Cancer Signalling NetworkOSBPL1A
Wikipedia pathwaysOSBPL1A
Orthology - Evolution
OrthoDB114876
GeneTree (enSembl)ENSG00000141447
Phylogenetic Trees/Animal Genes : TreeFamOSBPL1A
HOVERGENQ9BXW6
HOGENOMQ9BXW6
Homologs : HomoloGeneOSBPL1A
Homology/Alignments : Family Browser (UCSC)OSBPL1A
Gene fusions - Rearrangements
Fusion PortalOSBPL1A LETM2
Fusion PortalOSBPL1A RIOK3
Fusion : QuiverOSBPL1A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerOSBPL1A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)OSBPL1A
dbVarOSBPL1A
ClinVarOSBPL1A
1000_GenomesOSBPL1A 
Exome Variant ServerOSBPL1A
ExAC (Exome Aggregation Consortium)ENSG00000141447
GNOMAD BrowserENSG00000141447
Varsome BrowserOSBPL1A
Genetic variants : HAPMAP114876
Genomic Variants (DGV)OSBPL1A [DGVbeta]
DECIPHEROSBPL1A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisOSBPL1A 
Mutations
ICGC Data PortalOSBPL1A 
TCGA Data PortalOSBPL1A 
Broad Tumor PortalOSBPL1A
OASIS PortalOSBPL1A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICOSBPL1A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDOSBPL1A
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 OSBPL1A
DgiDB (Drug Gene Interaction Database)OSBPL1A
DoCM (Curated mutations)OSBPL1A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)OSBPL1A (select a term)
intoGenOSBPL1A
Cancer3DOSBPL1A(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606730   
Orphanet
DisGeNETOSBPL1A
MedgenOSBPL1A
Genetic Testing Registry OSBPL1A
NextProtQ9BXW6 [Medical]
TSGene114876
GENETestsOSBPL1A
Target ValidationOSBPL1A
Huge Navigator OSBPL1A [HugePedia]
snp3D : Map Gene to Disease114876
BioCentury BCIQOSBPL1A
ClinGenOSBPL1A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD114876
Chemical/Pharm GKB GenePA32826
Clinical trialOSBPL1A
Miscellaneous
canSAR (ICR)OSBPL1A (select the gene name)
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineOSBPL1A
EVEXOSBPL1A
GoPubMedOSBPL1A
iHOPOSBPL1A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Jul 30 14:22:39 CEST 2018

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