Human Gene CCDC102B (uc002lkh.2)
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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): CCDC102B
CDC HuGE Published Literature: CCDC102B
Positive Disease Associations: Body Mass Index
, Cholesterol, HDL
, Cholesterol, LDL
, Erythrocyte Indices
, Lipids
, Lipoproteins, VLDL
, Triglycerides
Related Studies: - Body Mass Index
Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics.
[PubMed 17903300]
Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
- Cholesterol, HDL
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.
- Cholesterol, LDL
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.
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Comparative Toxicogenomics Database (CTD)
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The following chemicals interact with this gene
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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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AK308114 - Homo sapiens cDNA, FLJ98062. AK091108 - Homo sapiens cDNA FLJ33789 fis, clone BRSSN2009378. JD119363 - Sequence 100387 from Patent EP1572962.
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Other Names for This Gene
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Alternate Gene Symbols: AK091108 UCSC ID: uc002lkh.2 RefSeq Accession: NM_001093729
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Gene Model Information
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category:
| nearCoding
| nonsense-mediated-decay:
| no
| RNA accession:
| AK091108.1
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exon count:
| 4 | CDS single in 3' UTR:
| no
| RNA size:
| 1851 |
ORF size:
| 0 | CDS single in intron:
| no
| Alignment % ID:
| 99.78 |
txCdsPredict score:
| 451.50 | frame shift in genome:
| no
| % Coverage:
| 100.00 |
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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