AutismKB

Evidence Detail for MBD3


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Basic Information Top
Gene Symbol:MBD3 ( - )
Gene Full Name: methyl-CpG binding domain protein 3
Band: 19p13.3
Quick LinksEntrez ID:53615; OMIM: 603573; Uniprot ID:MBD3_HUMAN; ENSEMBL ID: ENSG00000071655
Sequences Top
>MBD3|53615|nucleotide
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>MBD3|53615|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) 1 (1) 0 (0) 1 (2) 10 (3)
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
Li, 2005_1 human ---AD genetics: mutation screen
  • Subjects: 65
  • Normal Controls: 151
  • Methods: denaturing high-performance liquid chromatography and direct sequencing
  • Evidence Details: We detected no disease relating mutation.
Cukier, 2009_1 human bloodASD genetics: mutation screen
  • Subjects: 226 (180 male and 46 female)
  • Normal Controls: 245 (100 male and 145 female)
  • Methods: DHPLC, sequencing
  • Evidence Details: Variations discovered in the MBD3 gene included five known SNPs, ten novel SNPs, and four insertions/deletions. Only three variants occurred in the coding region, two of which altered the amino acid sequence of MBD3.
Large Scale Expression Studies Top
CNV Studies Top
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000068 19p13.3 19 D19S209 - - 0.003 Schellenberg, 2006

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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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