AutismKB

Evidence Detail for GAD1


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Basic Information Top
Gene Symbol:GAD1 ( FLJ45882,GAD,SCP )
Gene Full Name: glutamate decarboxylase 1 (brain, 67kDa)
Band: 2q31
Quick LinksEntrez ID:2571; OMIM: 605363; Uniprot ID:DCE1_HUMAN; ENSEMBL ID: ENSG00000128683
Sequences Top
>GAD1|2571|nucleotide
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>GAD1|2571|protein
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Evidence Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) No 0 (0) 1 (1) 1 (1) 2 (4) 2 (4) 2 (2) 25 (12)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 3
Case Control Based Association Studies: 1
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)		 ADI-R ADOS Diagnosis Age
(range)		 IQ #Subjects
(% Women)		 Age
(range)
CAUCASIAN
Buttenschon, 2009_1 Denmark 9 (detail) 444
(-)		ASD -
(10-19)		 - 444
(-)		 -
(10-19)
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Yip, 2007_1 human Purkinje cell--- RNA expression
  • Subjects: -
  • Normal Controls: -
  • Methods: in situ hybridization
  • Evidence Details: The results indicate that GAD 67 isoform mRNA level was reduced by 40% in the autistic group (P < 0.0001; two-tailed t test), suggesting that reduced Purkinje cell GABA input to the cerebellar nuclei potentially disrupts cerebellar output to higher association cortices affecting motor and/or cognitive function.
O'Roak, 2012_1 human bloodASD Mutation screen
  • Subjects: 209 simplex pedigrees
  • Normal Controls: -
  • Methods: direct sequencing
  • Evidence Details: De novo functional mutation was found in this gene locus
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
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)		-autism 16
(6.25%)		 0.57547 Down -
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_2292646
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
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
AutCNV0001194 2 2q31.1 gain 1 - maternal Pinto, 2010
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
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