Human Gene POU2AF1 (uc001plh.1)
  Description: Homo sapiens, clone IMAGE:4694422, mRNA.
Transcript (Including UTRs)
   Position: hg19 chr11:111,255,462-111,305,769 Size: 50,308 Total Exon Count: 6 Strand: -


Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionOther SpeciesmRNA DescriptionsOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:111,255,462-111,305,769)mRNA (may differ from genome)No protein
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaEnsembl
ExonPrimerHGNCMalacardsPubMed

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): POU2AF1
CDC HuGE Published Literature: POU2AF1
Positive Disease Associations: Apolipoproteins B , Heart Failure , multiple sclerosis
Related Studies:
  1. Apolipoproteins B
    Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903299]
    Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
  2. Heart Failure
    , , . [PubMed 0]
  3. multiple sclerosis
    The Games Collaborative, = Group et al. 2006, Linkage disequilibrium screening for multiple sclerosis implicates JAG1 and POU2AF1 as susceptibility genes in Europeans, J Neuroimmunol 2006. [PubMed 16934875]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: POU2AF1
Diseases sorted by gene-association score: primary biliary cholangitis* (14), hodgkin's lymphoma, lymphocytic depletion (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 100.31 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 158.95 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Descriptions from all associated GenBank mRNAs
  BC022056 - Homo sapiens, clone IMAGE:4694422, mRNA.

-  Other Names for This Gene
  Alternate Gene Symbols: BC022056
UCSC ID: uc001plh.1
Representative RNA: BC022056

-  Gene Model Information
 
category: noncoding nonsense-mediated-decay: no RNA accession: BC022056.1
exon count: 6CDS single in 3' UTR: no RNA size: 2008
ORF size: 0CDS single in intron: no Alignment % ID: 99.85
txCdsPredict score: 282.00frame shift in genome: no % Coverage: 98.26
has start codon: no stop codon in genome: no # of Alignments: 1
has end codon: no retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.