Atlas of Genetics and Cytogenetics in Oncology and Haematology

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POU2F1 (POU class 2 homeobox 1)

Identity

Alias_namesOTF1
POU domain class 2
Alias_symbol (synonym)OCT1
Other aliasoct-1B
HGNC (Hugo) POU2F1
LocusID (NCBI) 5451
Atlas_Id 46218
Location 1q24.2  [Link to chromosome band 1q24]
Location_base_pair Starts at 167220829 and ends at 167427345 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)
POU2F1 (1q24.2) / CD247 (1q24.2)POU2F1 (1q24.2) / POU2F1 (1q24.2)POU2F1 (1q24.2) / RNF13 (3q25.1)
POU2F1 1q24.2 / CD247 1q24.2

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  POU2F1/CD247 (1q24)

External links

Nomenclature
HGNC (Hugo)POU2F1   9212
Cards
Entrez_Gene (NCBI)POU2F1  5451  POU class 2 homeobox 1
AliasesOCT1; OTF1; oct-1B
GeneCards (Weizmann)POU2F1
Ensembl hg19 (Hinxton)ENSG00000143190 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000143190 [Gene_View]  ENSG00000143190 [Sequence]  chr1:167220829-167427345 [Contig_View]  POU2F1 [Vega]
ICGC DataPortalENSG00000143190
TCGA cBioPortalPOU2F1
AceView (NCBI)POU2F1
Genatlas (Paris)POU2F1
WikiGenes5451
SOURCE (Princeton)POU2F1
Genetics Home Reference (NIH)POU2F1
Genomic and cartography
GoldenPath hg38 (UCSC)POU2F1  -     chr1:167220829-167427345 +  1q24.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)POU2F1  -     1q24.2   [Description]    (hg19-Feb_2009)
EnsemblPOU2F1 - 1q24.2 [CytoView hg19]  POU2F1 - 1q24.2 [CytoView hg38]
Mapping of homologs : NCBIPOU2F1 [Mapview hg19]  POU2F1 [Mapview hg38]
OMIM164175   
Gene and transcription
Genbank (Entrez)AK091438 AK124826 AK302525 AK303201 AK308004
RefSeq transcript (Entrez)NM_001198783 NM_001198786 NM_002697
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)POU2F1
Cluster EST : UnigeneHs.283402 [ NCBI ]
CGAP (NCI)Hs.283402
Alternative Splicing GalleryENSG00000143190
Gene ExpressionPOU2F1 [ NCBI-GEO ]   POU2F1 [ EBI - ARRAY_EXPRESS ]   POU2F1 [ SEEK ]   POU2F1 [ MEM ]
Gene Expression Viewer (FireBrowse)POU2F1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5451
GTEX Portal (Tissue expression)POU2F1
Human Protein AtlasENSG00000143190-POU2F1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP14859   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP14859  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP14859
Splice isoforms : SwissVarP14859
PhosPhoSitePlusP14859
Domaine pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)    POU_1 (PS00035)    POU_2 (PS00465)    POU_3 (PS51179)   
Domains : Interpro (EBI)Homeobox-like_sf    Homeobox_CS    Homeobox_dom    Lambda_DNA-bd_dom_sf    POU    POU_dom    TF_octamer   
Domain families : Pfam (Sanger)Homeobox (PF00046)    Pou (PF00157)   
Domain families : Pfam (NCBI)pfam00046    pfam00157   
Domain families : Smart (EMBL)HOX (SM00389)  POU (SM00352)  
Conserved Domain (NCBI)POU2F1
DMDM Disease mutations5451
Blocks (Seattle)POU2F1
PDB (SRS)1CQT    1E3O    1GT0    1HF0    1O4X    1OCT    1POG    1POU   
PDB (PDBSum)1CQT    1E3O    1GT0    1HF0    1O4X    1OCT    1POG    1POU   
PDB (IMB)1CQT    1E3O    1GT0    1HF0    1O4X    1OCT    1POG    1POU   
PDB (RSDB)1CQT    1E3O    1GT0    1HF0    1O4X    1OCT    1POG    1POU   
Structural Biology KnowledgeBase1CQT    1E3O    1GT0    1HF0    1O4X    1OCT    1POG    1POU   
SCOP (Structural Classification of Proteins)1CQT    1E3O    1GT0    1HF0    1O4X    1OCT    1POG    1POU   
CATH (Classification of proteins structures)1CQT    1E3O    1GT0    1HF0    1O4X    1OCT    1POG    1POU   
SuperfamilyP14859
Human Protein Atlas [tissue]ENSG00000143190-POU2F1 [tissue]
Peptide AtlasP14859
HPRD01250
IPIIPI00219171   IPI00555806   IPI00555623   IPI00470450   IPI00640177   IPI00027828   IPI01011031   IPI01013664   
Protein Interaction databases
DIP (DOE-UCLA)P14859
IntAct (EBI)P14859
FunCoupENSG00000143190
BioGRIDPOU2F1
STRING (EMBL)POU2F1
ZODIACPOU2F1
Ontologies - Pathways
QuickGOP14859
Ontology : AmiGORNA polymerase II proximal promoter sequence-specific DNA binding  RNA polymerase II core promoter sequence-specific DNA binding  RNA polymerase II transcription factor activity, sequence-specific DNA binding  RNA polymerase II transcription factor activity, sequence-specific DNA binding  RNA polymerase II transcription factor activity, sequence-specific DNA binding  transcription factor activity, RNA polymerase II core promoter sequence-specific DNA binding  DNA binding  protein binding  nucleus  nucleoplasm  nucleoplasm  endoplasmic reticulum  cytokine-mediated signaling pathway  snRNA transcription by RNA polymerase II  intracellular membrane-bounded organelle  sequence-specific DNA binding  negative regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  RNA polymerase II transcription factor complex  
Ontology : EGO-EBIRNA polymerase II proximal promoter sequence-specific DNA binding  RNA polymerase II core promoter sequence-specific DNA binding  RNA polymerase II transcription factor activity, sequence-specific DNA binding  RNA polymerase II transcription factor activity, sequence-specific DNA binding  RNA polymerase II transcription factor activity, sequence-specific DNA binding  transcription factor activity, RNA polymerase II core promoter sequence-specific DNA binding  DNA binding  protein binding  nucleus  nucleoplasm  nucleoplasm  endoplasmic reticulum  cytokine-mediated signaling pathway  snRNA transcription by RNA polymerase II  intracellular membrane-bounded organelle  sequence-specific DNA binding  negative regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  RNA polymerase II transcription factor complex  
NDEx NetworkPOU2F1
Atlas of Cancer Signalling NetworkPOU2F1
Wikipedia pathwaysPOU2F1
Orthology - Evolution
OrthoDB5451
GeneTree (enSembl)ENSG00000143190
Phylogenetic Trees/Animal Genes : TreeFamPOU2F1
HOVERGENP14859
HOGENOMP14859
Homologs : HomoloGenePOU2F1
Homology/Alignments : Family Browser (UCSC)POU2F1
Gene fusions - Rearrangements
Fusion : MitelmanPOU2F1/CD247 [1q24.2/1q24.2]  
Fusion PortalPOU2F1 1q24.2 CD247 1q24.2 BRCA
Fusion : QuiverPOU2F1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPOU2F1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)POU2F1
dbVarPOU2F1
ClinVarPOU2F1
1000_GenomesPOU2F1 
Exome Variant ServerPOU2F1
ExAC (Exome Aggregation Consortium)ENSG00000143190
GNOMAD BrowserENSG00000143190
Varsome BrowserPOU2F1
Genetic variants : HAPMAP5451
Genomic Variants (DGV)POU2F1 [DGVbeta]
DECIPHERPOU2F1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPOU2F1 
Mutations
ICGC Data PortalPOU2F1 
TCGA Data PortalPOU2F1 
Broad Tumor PortalPOU2F1
OASIS PortalPOU2F1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPOU2F1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPOU2F1
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 POU2F1
DgiDB (Drug Gene Interaction Database)POU2F1
DoCM (Curated mutations)POU2F1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)POU2F1 (select a term)
intoGenPOU2F1
Cancer3DPOU2F1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM164175   
Orphanet
DisGeNETPOU2F1
MedgenPOU2F1
Genetic Testing Registry POU2F1
NextProtP14859 [Medical]
TSGene5451
GENETestsPOU2F1
Target ValidationPOU2F1
Huge Navigator POU2F1 [HugePedia]
snp3D : Map Gene to Disease5451
BioCentury BCIQPOU2F1
ClinGenPOU2F1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5451
Chemical/Pharm GKB GenePA33536
Clinical trialPOU2F1
Miscellaneous
canSAR (ICR)POU2F1 (select the gene name)
Probes
Litterature
PubMed194 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePOU2F1
EVEXPOU2F1
GoPubMedPOU2F1
iHOPPOU2F1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Aug 27 11:45:25 CEST 2018
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