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OSTM1 (osteoclastogenesis associated transmembrane protein 1)

Identity

Alias_symbol (synonym)HSPC019
GL
Other aliasGIPN
OPTB5
HGNC (Hugo) OSTM1
LocusID (NCBI) 28962
Atlas_Id 56205
Location 6q21  [Link to chromosome band 6q21]
Location_base_pair Starts at 108041409 and ends at 108074737 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)
OSTM1 (6q21) / CEP85L (6q22.31)OSTM1 (6q21) / CXCL16 (17p13.2)OSTM1 (6q21) / KMT2A (11q23.3)
OSTM1 (6q21) / SNX3 (6q21)PROSC (8p11.23) / OSTM1 (6q21)

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 Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(6;6)(q21;q23) EPB41L2/OSTM1


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(6;6)(q21;q22) OSTM1/CEP85L


External links

Nomenclature
HGNC (Hugo)OSTM1   21652
Cards
Entrez_Gene (NCBI)OSTM1  28962  osteoclastogenesis associated transmembrane protein 1
AliasesGIPN; GL; HSPC019; OPTB5
GeneCards (Weizmann)OSTM1
Ensembl hg19 (Hinxton)ENSG00000081087 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000081087 [Gene_View]  ENSG00000081087 [Sequence]  chr6:108041409-108074737 [Contig_View]  OSTM1 [Vega]
ICGC DataPortalENSG00000081087
TCGA cBioPortalOSTM1
AceView (NCBI)OSTM1
Genatlas (Paris)OSTM1
WikiGenes28962
SOURCE (Princeton)OSTM1
Genetics Home Reference (NIH)OSTM1
Genomic and cartography
GoldenPath hg38 (UCSC)OSTM1  -     chr6:108041409-108074737 -  6q21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)OSTM1  -     6q21   [Description]    (hg19-Feb_2009)
EnsemblOSTM1 - 6q21 [CytoView hg19]  OSTM1 - 6q21 [CytoView hg38]
Mapping of homologs : NCBIOSTM1 [Mapview hg19]  OSTM1 [Mapview hg38]
OMIM259720   607649   
Gene and transcription
Genbank (Entrez)AA428166 AF077205 AF533891 AJ420489 AJ420572
RefSeq transcript (Entrez)NM_014028
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)OSTM1
Cluster EST : UnigeneHs.745455 [ NCBI ]
CGAP (NCI)Hs.745455
Alternative Splicing GalleryENSG00000081087
Gene ExpressionOSTM1 [ NCBI-GEO ]   OSTM1 [ EBI - ARRAY_EXPRESS ]   OSTM1 [ SEEK ]   OSTM1 [ MEM ]
Gene Expression Viewer (FireBrowse)OSTM1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)28962
GTEX Portal (Tissue expression)OSTM1
Human Protein AtlasENSG00000081087-OSTM1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ86WC4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ86WC4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ86WC4
Splice isoforms : SwissVarQ86WC4
PhosPhoSitePlusQ86WC4
Domains : Interpro (EBI)Osteopetrosis-assoc_TM_1   
Domain families : Pfam (Sanger)OSTMP1 (PF09777)   
Domain families : Pfam (NCBI)pfam09777   
Conserved Domain (NCBI)OSTM1
DMDM Disease mutations28962
Blocks (Seattle)OSTM1
SuperfamilyQ86WC4
Human Protein Atlas [tissue]ENSG00000081087-OSTM1 [tissue]
Peptide AtlasQ86WC4
HPRD09628
IPIIPI00329054   IPI00973141   
Protein Interaction databases
DIP (DOE-UCLA)Q86WC4
IntAct (EBI)Q86WC4
FunCoupENSG00000081087
BioGRIDOSTM1
STRING (EMBL)OSTM1
ZODIACOSTM1
Ontologies - Pathways
QuickGOQ86WC4
Ontology : AmiGOlysosomal membrane  cytosol  integral component of membrane  osteoclast differentiation  
Ontology : EGO-EBIlysosomal membrane  cytosol  integral component of membrane  osteoclast differentiation  
NDEx NetworkOSTM1
Atlas of Cancer Signalling NetworkOSTM1
Wikipedia pathwaysOSTM1
Orthology - Evolution
OrthoDB28962
GeneTree (enSembl)ENSG00000081087
Phylogenetic Trees/Animal Genes : TreeFamOSTM1
HOVERGENQ86WC4
HOGENOMQ86WC4
Homologs : HomoloGeneOSTM1
Homology/Alignments : Family Browser (UCSC)OSTM1
Gene fusions - Rearrangements
Fusion : QuiverOSTM1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerOSTM1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)OSTM1
dbVarOSTM1
ClinVarOSTM1
1000_GenomesOSTM1 
Exome Variant ServerOSTM1
ExAC (Exome Aggregation Consortium)ENSG00000081087
GNOMAD BrowserENSG00000081087
Varsome BrowserOSTM1
Genetic variants : HAPMAP28962
Genomic Variants (DGV)OSTM1 [DGVbeta]
DECIPHEROSTM1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisOSTM1 
Mutations
ICGC Data PortalOSTM1 
TCGA Data PortalOSTM1 
Broad Tumor PortalOSTM1
OASIS PortalOSTM1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICOSTM1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDOSTM1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch OSTM1
DgiDB (Drug Gene Interaction Database)OSTM1
DoCM (Curated mutations)OSTM1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)OSTM1 (select a term)
intoGenOSTM1
Cancer3DOSTM1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM259720    607649   
Orphanet11644   
DisGeNETOSTM1
MedgenOSTM1
Genetic Testing Registry OSTM1
NextProtQ86WC4 [Medical]
TSGene28962
GENETestsOSTM1
Target ValidationOSTM1
Huge Navigator OSTM1 [HugePedia]
snp3D : Map Gene to Disease28962
BioCentury BCIQOSTM1
ClinGenOSTM1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD28962
Chemical/Pharm GKB GenePA134941162
Clinical trialOSTM1
Miscellaneous
canSAR (ICR)OSTM1 (select the gene name)
Probes
Litterature
PubMed29 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineOSTM1
EVEXOSTM1
GoPubMedOSTM1
iHOPOSTM1
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 : Tue Nov 6 11:27:59 CET 2018

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