AutismKB


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Evidence Detail for DLX2


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Basic Information Top
Gene Symbol:DLX2 ( TES-1,TES1 )
Gene Full Name: distal-less homeobox 2
Band: 2q32
Quick LinksEntrez ID:1746; OMIM: 126255; Uniprot ID:DLX2_HUMAN; ENSEMBL ID: ENSG00000115844
Sequences Top
>DLX2|1746|nucleotide
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>DLX2|1746|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) 0 (0) 2 (4) 1 (8) 0 (1) 5 (13)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 8
Case Control Based Association Studies: 0
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Hamilton, 2005_1 human bloodASD genetics: mutation screen
  • Subjects: 161
  • Normal Controls: 378
  • Methods: mutation screen
  • Evidence Details: Sequencing of exons, exon/intron boundaries and known enhancers of DLX1, 2, 5 and 6 identified several nonsynonymous variants in DLX2 and DLX5 and a variant in a DLX5/6 intragenic enhancer. The nonsynonymous variants were detected in 4 of 95 families from which samples were sequenced. Two of these four SNPs were not observed in 378 undiagnosed samples from North American populations, while the remaining 2 were seen in one sample each.
Large Scale Expression Studies Top
CNV Studies Top
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000030 2q31.1 2 D2S2188 3.74 - - Monaco, 2001
AutLD0000071 2q31.1 2 D2S335 1.2 - - Buxbaum, 2001
AutLD0000076 2q31.1-31.3 2 D2S2314/D2S2310 2.54 - - Lamb, 2005
AutLD0000127 2q31.1 2 D2S2381 - - 0.00525 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
  • Click to Download Data

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