AutismKB

Evidence Detail for PDE4A


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Basic Information Top
Gene Symbol:PDE4A ( DPDE2,PDE4,PDE46 )
Gene Full Name: phosphodiesterase 4A, cAMP-specific
Band: 19p13.2
Quick LinksEntrez ID:5141; OMIM: 600126; Uniprot ID:PDE4A_HUMAN; ENSEMBL ID: ENSG00000065989
Sequences Top
>PDE4A|5141|nucleotide
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>PDE4A|5141|protein
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Evidence Statistic Top

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Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) No 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 1 (1) 9 (1)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Braun, 2007_1 human brain(Brodmann's area 40 (BA40, parietal cortex), BA9 (superior frontal cortex), and cerebellum)--- protein expression
  • Subjects: -
  • Normal Controls: -
  • Methods: sodium dodecyl sulfate-polyacrylamide gel electrophoresis and Western blotting
  • Evidence Details: We observed a lower expression of PDE4A5, PDE4B1, PDE4B3, PDE4B4, and PDE4B2 in the cerebella of subjects with autism when compared with matched controls. In BA9(superior frontal cortex), we observed the opposite: a higher expression of PDE4AX, PDE4A1, and PDE4B2 in subjects with autism
Large Scale Expression Studies Top
CNV Studies Top
Linkage Studies Top

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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