AutismKB

Evidence Detail for GABRG3


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Basic Information Top
Gene Symbol:GABRG3 ( - )
Gene Full Name: gamma-aminobutyric acid (GABA) A receptor, gamma 3
Band: 15q12
Quick LinksEntrez ID:2567; OMIM: 600233; Uniprot ID:GBRG3_HUMAN; ENSEMBL ID: ENSG00000182256
Sequences Top
>GABRG3|2567|nucleotide
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>GABRG3|2567|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) 0 (0) 3 (21) 0 (0) 1 (7) 1 (1) 16 (10)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 5
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)
CAUCASIAN
Kelemenova, 2010_1 Slovakia 1 (detail) 90
(0.00%)
ASD -
-
- 85
(-)
-
-
ASIAN
Tochigi, 2007_1 Japan 3 (detail) 166
(11.45%)
ASD 19.9±9.8
-
- 412
(66.99%)
36±11.5
-
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
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.
Large Scale Expression Studies Top
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
AutCNV0000046 15 15q11.2-12 gain 6 - 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
AutCNV0000259 15 15q11.2 gain 2 - Overlapping/Recurrent CNVs; Cook, 1997
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
AutCNV0004748 15 15q12 Gain 5 0 Overlapping/Recurrent CNVs; CNVs Not Present In Control; Bucan, 2009
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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