Human Gene CCDC102B (uc002lkh.2)
  Description: Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.
Transcript (Including UTRs)
   Position: hg19 chr18:66,382,491-66,422,236 Size: 39,746 Total Exon Count: 4 Strand: +


Page IndexSequence and LinksPrimersGenetic AssociationsCTDRNA-Seq Expression
Microarray ExpressionOther SpeciesmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr18:66,382,491-66,422,236)mRNA (may differ from genome)No protein
Gene SorterGenome BrowserOther Species FASTATable SchemaBioGPSEnsembl
ExonPrimerGeneNetworkH-INVHGNCLynxPubMed
Treefam

-  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): CCDC102B
CDC HuGE Published Literature: CCDC102B
Positive Disease Associations: Body Mass Index , Cholesterol, HDL , Cholesterol, LDL , Erythrocyte Indices , Lipids , Lipoproteins, VLDL , Triglycerides
Related Studies:
  1. 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.
  2. 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.
  3. 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)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6.16 RPKM in Lung
Total median expression: 46.31 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
  AK308114 - Homo sapiens cDNA, FLJ98062.
AK091108 - Homo sapiens cDNA FLJ33789 fis, clone BRSSN2009378.
JD119363 - Sequence 100387 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: AK091108
UCSC ID: uc002lkh.2
RefSeq Accession: NM_001093729

-  Gene Model Information
 
category: nearCoding nonsense-mediated-decay: no RNA accession: AK091108.1
exon count: 4CDS single in 3' UTR: no RNA size: 1851
ORF size: 0CDS single in intron: no Alignment % ID: 99.78
txCdsPredict score: 451.50frame 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
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.