Evidence Detail for DPYD

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Basic Information Top
Gene Symbol:DPYD ( DHP,DHPDHASE,DPD,MGC132008,MGC70799 )
Gene Full Name: dihydropyrimidine dehydrogenase
Band: 1p22
Quick LinksEntrez ID:1806; OMIM: 612779; Uniprot ID:DPYD_HUMAN; ENSEMBL ID: ENSG00000188641
Sequences Top
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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) 1 (1) 1 (3) 0 (0) 0 (0) 1 (1) 10 (2)
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
Carter, 2010_1 human saliva or bloodASD genetics: mutation screen
  • Subjects: 4
  • Normal Controls: -
  • Methods: FISH, RT-PCR
  • Evidence Details: Our study suggests that hemizygous deletions involving the DPYD locus present with variable phenotypes which can include speech delay and autistic features, and may also be influenced by additional mutations in other genes, issues which need to be considered in genetic counseling.
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Population Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Ghahramani Seno, 2010_1 Unknown lymphoblastoid cell-line 20
-AD 22
1.32 Up 0.0182
  • Platform: Illumina HumanRef-8_V3 gene expression arrays (San Diego, USA)
  • ProbeSet: ILMN_1795715
  • RefSeq_ID/ EST: -
  • GEO_ID: -
  • Statistic Method: Generalized Estimating Equations (GEE)
Proteomics Studies:0
Reference Population Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000136 1 1p21.3 loss 1 - Denovo CNVs; Marshall, 2008
AutCNV0001555 1 1p21.3 loss 1 - paternal Pinto, 2010
AutCNV0004189 1 1p21.3 loss 1 - CNVs Only Present In Patients; Sanders, 2011
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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