Human Gene POU2AF1 (uc001plh.1)
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Sequence and Links to Tools and Databases
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Primer design for this transcript
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Genetic Association Studies of Complex Diseases and Disorders
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Genetic Association Database (archive): POU2AF1
CDC HuGE Published Literature: POU2AF1
Positive Disease Associations: Apolipoproteins B
, Heart Failure
, multiple sclerosis
Related Studies: - 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.
- Heart Failure
, , .
[PubMed 0]
- 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]
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MalaCards Disease Associations
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Comparative Toxicogenomics Database (CTD)
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
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Microarray Expression Data
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Orthologous Genes in Other Species
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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.
Mouse | Rat | Zebrafish | D. melanogaster | C. elegans | S. cerevisiae |
No ortholog | No ortholog | No ortholog | No ortholog | No ortholog | No ortholog |
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Descriptions from all associated GenBank mRNAs
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BC022056 - Homo sapiens, clone IMAGE:4694422, mRNA.
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Other Names for This Gene
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Alternate Gene Symbols: BC022056 UCSC ID: uc001plh.1 Representative RNA: BC022056
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Gene Model Information
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category:
| noncoding
| nonsense-mediated-decay:
| no
| RNA accession:
| BC022056.1
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exon count:
| 6 | CDS single in 3' UTR:
| no
| RNA size:
| 2008 |
ORF size:
| 0 | CDS single in intron:
| no
| Alignment % ID:
| 99.85 |
txCdsPredict score:
| 282.00 | frame 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 |
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for a detailed description of the fields of the table above.
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Methods, Credits, and Use Restrictions
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Click here
for details on how this gene model was made and data restrictions if any.
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