Evidence Detail for MBD1

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Basic Information Top
Gene Symbol:MBD1 ( CXXC3,PCM1,RFT )
Gene Full Name: methyl-CpG binding domain protein 1
Band: 18q21
Quick LinksEntrez ID:4152; OMIM: 156535; Uniprot ID:MBD1_HUMAN; ENSEMBL ID: ENSG00000141644
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) 0 (0) 0 (0) 1 (1) 0 (0) 2 (2) 15 (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: An R269C mutation that resulted in the addition of cysteine near a cysteine rich region was found in the MBD1 gene in one patient. This mutation was also detected in the patient's father with some phenotypes of autism and his normal sister, but not in 151 controls.
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: 11 SNPs were detected in MBD1, 4 known and 7 novel. Three of the novel SNPs as well as rs12555 resulted in nonsynonymous amino acid changes (R147K, R428H, K558N, and P401A, respectively).
Large Scale Expression Studies Top
CNV Studies Top
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000141 18q12.1-21.1 18 D18S536/D18S970 - - 0.0022 Lauritsen, 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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