Atlas of Genetics and Cytogenetics in Oncology and Haematology


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POU5F1 (POU class 5 homeobox 1)

Identity

Alias_namesOTF3
POU domain class 5
Alias_symbol (synonym)OCT3
Oct4
MGC22487
Other aliasOCT4
OTF-3
OTF4
Oct-3
Oct-4
HGNC (Hugo) POU5F1
LocusID (NCBI) 5460
Atlas_Id 43916
Location 6p21.33  [Link to chromosome band 6p21]
Location_base_pair Starts at 31164337 and ends at 31167170 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)
EWSR1 (22q12.2) / POU5F1 (6p21.33)FUS (16p11.2) / POU5F1 (6p21.33)POU5F1 (6p21.33) / EWSR1 (22q12.2)
POU5F1 (6p21.33) / SARS (1p13.3)EWSR1 POU5F1

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) [ 6 ]
  Soft Tissues: Malignant Myoepithelioma
Soft tissue tumors: an overview
Skin: Hidradenoma with t(6;22)(p21;q12) EWSR1/POU5F1
Head and Neck: Salivary gland tumors: Mucoepidermoid carcinoma with t(6;22)(p21;q12) EWSR1/POU5F1
Soft Tissues: Undifferentiated sarcoma with t(6;22)(p21;q12) EWSR1/POU5F1
t(6;16)(p21;p11) FUS/POU5F1


External links

Nomenclature
HGNC (Hugo)POU5F1   9221
Cards
Entrez_Gene (NCBI)POU5F1  5460  POU class 5 homeobox 1
AliasesOCT3; OCT4; OTF-3; OTF3; 
OTF4; Oct-3; Oct-4
GeneCards (Weizmann)POU5F1
Ensembl hg19 (Hinxton)ENSG00000204531 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000204531 [Gene_View]  ENSG00000204531 [Sequence]  chr6:31164337-31167170 [Contig_View]  POU5F1 [Vega]
ICGC DataPortalENSG00000204531
TCGA cBioPortalPOU5F1
AceView (NCBI)POU5F1
Genatlas (Paris)POU5F1
WikiGenes5460
SOURCE (Princeton)POU5F1
Genetics Home Reference (NIH)POU5F1
Genomic and cartography
GoldenPath hg38 (UCSC)POU5F1  -     chr6:31164337-31167170 -  6p21.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)POU5F1  -     6p21.33   [Description]    (hg19-Feb_2009)
EnsemblPOU5F1 - 6p21.33 [CytoView hg19]  POU5F1 - 6p21.33 [CytoView hg38]
Mapping of homologs : NCBIPOU5F1 [Mapview hg19]  POU5F1 [Mapview hg38]
OMIM164177   
Gene and transcription
Genbank (Entrez)AA205411 AB971680 AB971681 AI811039 AM851115
RefSeq transcript (Entrez)NM_001173531 NM_001285986 NM_001285987 NM_002701 NM_203289
RefSeq genomic (Entrez)NC_000006 NT_113891 NT_167245 NT_167246 NT_167247 NT_167248 NT_167249
Consensus coding sequences : CCDS (NCBI)POU5F1
Cluster EST : UnigeneHs.249184 [ NCBI ]
CGAP (NCI)Hs.249184
Alternative Splicing GalleryENSG00000204531
Gene ExpressionPOU5F1 [ NCBI-GEO ]   POU5F1 [ EBI - ARRAY_EXPRESS ]   POU5F1 [ SEEK ]   POU5F1 [ MEM ]
Gene Expression Viewer (FireBrowse)POU5F1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5460
GTEX Portal (Tissue expression)POU5F1
Human Protein AtlasENSG00000204531-POU5F1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ01860   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ01860  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ01860
Splice isoforms : SwissVarQ01860
PhosPhoSitePlusQ01860
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    POU_dom_5   
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)POU5F1
DMDM Disease mutations5460
Blocks (Seattle)POU5F1
SuperfamilyQ01860
Human Protein Atlas [tissue]ENSG00000204531-POU5F1 [tissue]
Peptide AtlasQ01860
HPRD01252
IPIIPI00915828   
Protein Interaction databases
DIP (DOE-UCLA)Q01860
IntAct (EBI)Q01860
FunCoupENSG00000204531
BioGRIDPOU5F1
STRING (EMBL)POU5F1
ZODIACPOU5F1
Ontologies - Pathways
QuickGOQ01860
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  transcription regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription repressor activity, RNA polymerase II-specific  endodermal cell fate specification  blastocyst development  DNA binding  DNA-binding transcription factor activity  RNA binding  protein binding  nucleus  nucleus  nucleoplasm  nucleoplasm  cytoplasm  mitochondrion  cytosol  regulation of transcription, DNA-templated  transcription by RNA polymerase II  response to wounding  anatomical structure morphogenesis  regulation of asymmetric cell division  regulation of gene expression  ubiquitin protein ligase binding  somatic stem cell population maintenance  somatic stem cell population maintenance  somatic stem cell population maintenance  miRNA binding  mRNA transcription by RNA polymerase II  sequence-specific DNA binding  positive regulation of transcription by RNA polymerase II  negative regulation of gene silencing by miRNA  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  transcription regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription repressor activity, RNA polymerase II-specific  endodermal cell fate specification  blastocyst development  DNA binding  DNA-binding transcription factor activity  RNA binding  protein binding  nucleus  nucleus  nucleoplasm  nucleoplasm  cytoplasm  mitochondrion  cytosol  regulation of transcription, DNA-templated  transcription by RNA polymerase II  response to wounding  anatomical structure morphogenesis  regulation of asymmetric cell division  regulation of gene expression  ubiquitin protein ligase binding  somatic stem cell population maintenance  somatic stem cell population maintenance  somatic stem cell population maintenance  miRNA binding  mRNA transcription by RNA polymerase II  sequence-specific DNA binding  positive regulation of transcription by RNA polymerase II  negative regulation of gene silencing by miRNA  
NDEx NetworkPOU5F1
Atlas of Cancer Signalling NetworkPOU5F1
Wikipedia pathwaysPOU5F1
Orthology - Evolution
OrthoDB5460
GeneTree (enSembl)ENSG00000204531
Phylogenetic Trees/Animal Genes : TreeFamPOU5F1
HOVERGENQ01860
HOGENOMQ01860
Homologs : HomoloGenePOU5F1
Homology/Alignments : Family Browser (UCSC)POU5F1
Gene fusions - Rearrangements
Fusion : MitelmanEWSR1/POU5F1 [22q12.2/6p21.33]  [t(6;22)(p21;q12)]  
Fusion : QuiverPOU5F1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPOU5F1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)POU5F1
dbVarPOU5F1
ClinVarPOU5F1
1000_GenomesPOU5F1 
Exome Variant ServerPOU5F1
ExAC (Exome Aggregation Consortium)ENSG00000204531
GNOMAD BrowserENSG00000204531
Varsome BrowserPOU5F1
Genetic variants : HAPMAP5460
Genomic Variants (DGV)POU5F1 [DGVbeta]
DECIPHERPOU5F1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPOU5F1 
Mutations
ICGC Data PortalPOU5F1 
TCGA Data PortalPOU5F1 
Broad Tumor PortalPOU5F1
OASIS PortalPOU5F1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPOU5F1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPOU5F1
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 POU5F1
DgiDB (Drug Gene Interaction Database)POU5F1
DoCM (Curated mutations)POU5F1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)POU5F1 (select a term)
intoGenPOU5F1
Cancer3DPOU5F1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM164177   
Orphanet
DisGeNETPOU5F1
MedgenPOU5F1
Genetic Testing Registry POU5F1
NextProtQ01860 [Medical]
TSGene5460
GENETestsPOU5F1
Target ValidationPOU5F1
Huge Navigator POU5F1 [HugePedia]
snp3D : Map Gene to Disease5460
BioCentury BCIQPOU5F1
ClinGenPOU5F1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5460
Chemical/Pharm GKB GenePA33545
Clinical trialPOU5F1
Miscellaneous
canSAR (ICR)POU5F1 (select the gene name)
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePOU5F1
EVEXPOU5F1
GoPubMedPOU5F1
iHOPPOU5F1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Tue Nov 6 11:31:23 CET 2018

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