Evidence Detail for GABRB1

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Basic Information Top
Gene Symbol:GABRB1 ( - )
Gene Full Name: gamma-aminobutyric acid (GABA) A receptor, beta 1
Band: 4p12
Quick LinksEntrez ID:2560; OMIM: 137190; Uniprot ID:GBRB1_HUMAN; ENSEMBL ID: ENSG00000163288
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) 1 (1) 0 (0) 0 (3) 2 (3) 16 (6)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 3
Case Control Based Association Studies: 0
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
(% Women)
ADI-R ADOS Diagnosis Age
IQ #Subjects
(% Women)
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
Kakinuma, 2008_1 human ---AD case report
  • Subjects: 1 Japanese girl
  • Normal Controls: -
  • Methods: FISH
  • Evidence Details: Fluorescence in situ hybridization (FISH) with probes covering the region spanning a cluster of the gamma aminobutyric acid A (GABA-A) receptor subunit genes in the proximal short arm of chromosome 4 demonstrated total three signals for the GABRG1, GABRA4, and GABRA2 genes, but only two signals for GABRB1.
Fatemi, 2010_1 human brain--autism RNA expression, protein expression
  • Subjects: 9
  • Normal Controls: 12
  • Methods: qRT-PCR, western blot
  • Evidence Details: altered expression of gamma-aminobutyric acid A (GABAA) and ammaaminobutyric acid B (GABAB) receptors in the brains of subjects with autism
Jiao, 2011_1 human bloodASD SNP-based diagnose model
  • Subjects: 180
  • Normal Controls: -
  • Methods: PCR
  • Evidence Details: We found no significant differences in genotypes and allele distributions with respect to this SNP between our ASD subjects and normal Asian populations in the HapMap
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000263 4 4p12-13 gain 1 - CNVs Only Present In Patients; Sabaratnam, 2000
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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