AutismKB

Evidence Detail for GABRB3


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Basic Information Top
Gene Symbol:GABRB3 ( ECA5,MGC9051 )
Gene Full Name: gamma-aminobutyric acid (GABA) A receptor, beta 3
Band: 15q11.2-q12
Quick LinksEntrez ID:2562; OMIM: 137192; Uniprot ID:GBRB3_HUMAN; ENSEMBL ID: ENSG00000166206
Sequences Top
>GABRB3|2562|nucleotide
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>GABRB3|2562|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) 3 (20) 0 (0) 2 (12) 3 (4) 34 (19)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 10
Case Control Based Association Studies: 2
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
ASIAN
Tochigi, 2007_1 Japan 6 (detail) 166
(11.45%)
ASD 19.9±9.8
-
- 412
(66.99%)
36±11.5
-
Yoo, 2009_1 Korean 1 (detail) 58
(18.97%)
ASD 5.5 ± 4.1
-
- 86
(17.44%)
33.6±9.3
-
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Martin, 2000_1 human blood--- genetics
  • Subjects: -
  • Normal Controls: -
  • Methods: linkage disequilibrium
  • Evidence Details: We did, however, find suggestive evidence for linkage disequilibrium with a marker, GABRB3, approximately 60 kb beyond the 3' end of beta3-subunit gene
Hogart, 2007_1 human ---AD epigentics
  • Subjects: 8
  • Normal Controls: -
  • Methods: -
  • Evidence Details: four of eight autism brain samples showed monoallelic or highly skewed allelic expression of one or more GABR gene, suggesting that epigenetic dysregulation of these genes is common to both disorders.
Delahanty, 2009_1 human embryonic kidney 293T cells--- protein function
  • Subjects: -
  • Normal Controls: -
  • Methods: Electrophysiology, Biotinylation and western blot analysis, 35S radiolabeling metabolic pulse-chase assays
  • Evidence Details: Wild-type and mutant (rs25409) beta3 subunit-containing alpha1beta3gamma2 or alpha3beta3gamma2 GABA(A) receptors shows reduced whole-cell current and decreased beta3 subunit protein on the cell surface due to impaired intracellular beta3 subunit processing.
Fatemi, 2011_1 human brain--autism expression level
  • Subjects: 20
  • Normal Controls: 10
  • Methods: western blot
  • Evidence Details: We observed significantly reduced levels of protein for FMRP in adults with autism, significantly increased levels of protein for mGluR5 in children with autism and significantly increased levels of GFAP in adults and children with autism. We found no change in expression of GABRb3.
Jiao, 2011_1 human bloodASD SNP-based diagnose model
  • Subjects: 180
  • Normal Controls: -
  • Methods: PCR
  • Evidence Details: "The SNP rs878960 vase selected by all models, and was related associated with CARS assessment"
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%)
1.11194 Up 20.8011
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1709681
  • 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
AutCNV0000010 15 15q11-13.33 gain 1 - Denovo CNVs; Sebat, 2007
AutCNV0000016 15 15q11-13 gain 5 - Overlapping/Recurrent CNVs; Denovo CNVs; Weiss, 2008
AutCNV0000025 15 15q11.2-12 gain 6 - CNVs Overlapping With ACRD; Szatmari, 2007
AutCNV0000027 15 15q12 gain 1 - CNVs Overlapping With ACRD; Szatmari, 2007
AutCNV0000046 15 15q11.2-12 gain 6 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000109 15 15q12 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000133 15 15q11-13 gain 1 - Denovo CNVs; Jacquemont, 2006
AutCNV0000148 15 15q11.2-13.3 gain 1 - Denovo CNVs; Marshall, 2008
AutCNV0000149 15 15q11.2-13.3 gain 1 - Denovo CNVs; Marshall, 2008
AutCNV0000181 15 15q11.2-q13.3 gain 1 - Other; Denovo CNVs; Marshall, 2008
AutCNV0000224 15 15q11-13 gain 1 - CNVs Only Present In Patients; Christian, 2008
AutCNV0000225 15 15q11-13 gain 1 - Denovo CNVs; Christian, 2008
AutCNV0000226 15 15q11-13 gain 1 - Denovo CNVs; Christian, 2008
AutCNV0000258 15 15q11-13 gain 1 - CNVs Only Present In Patients; Silva, 2002
AutCNV0000268 15 15q11-13 gain 1 - Denovo CNVs; Kwasnicka-Crawford, 2007
AutCNV0000272 15 15q11.2-13 loss 2 - Overlapping/Recurrent CNVs; Wassink, 2001
AutCNV0000273 15 15q11.2-13 gain 1 - CNVs Only Present In Patients; Wassink, 2001
AutCNV0000279 15 15q11.2-13 gain 1 - CNVs Only Present In Patients; Wassink, 2007
AutCNV0000280 15 15q11-13 gain 1 0 CNVs Only Present In Patients; Bolton, 2004
AutCNV0000284 15 15q11-13 gain 3 - Overlapping/Recurrent CNVs; Wolpert, 2000
AutCNV0000285 15 15q11-13 gain 3 - Denovo CNVs; Sahoo, 2005
AutCNV0000286 15 15q11-13 gain 1 - CNVs Only Present In Patients; Sahoo, 2005
AutCNV0000287 15 15p11-q13 gain 4 - Overlapping/Recurrent CNVs; Sahoo, 2005
AutCNV0000288 15 15p11-q13 gain 1 - CNVs Only Present In Patients; Sahoo, 2005
AutCNV0000290 15 15q11-13 gain 1 - CNVs Only Present In Patients; Keller, 2003
AutCNV0000297 15 15q11-12 gain 1 - CNVs Only Present In Patients; Mann, 2004
AutCNV0000298 15 15q11-12 gain 1 - CNVs Only Present In Patients; Mann, 2004
AutCNV0000588 15 15q11.2-13.1 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000676 15 15q11-13 gain 2 - Overlapping/Recurrent CNVs; Bremer, 2009
AutCNV0000824 15 15q11.2-13.1 gain 1 - DeNovo Pinto, 2010
AutCNV0003836 15 15q11.2-q13.1 gain 1 - Denovo CNVs; Levy, 2011
AutCNV0004311 15 15q11.1-q13.3 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004312 15 15q11.2-q13.3 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004313 15 15q11.2-q13.3 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004314 15 15q11.2-q13.1 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004315 15 15q11.2-q13.1 gain 1 - Overlapping/Recurrent CNVs; DeNovo Sanders, 2011
AutCNV0004316 15 15q11.2-q13.1 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004630 15 15q11-13 Gain 4 - CNVs Only Present In Patients; Cai, 2008
Linkage Studies Top

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  (e.g. NLGN4X)

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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