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 Links	Entrez ID:2560; OMIM: 137190; Uniprot ID:GBRB1_HUMAN; ENSEMBL ID: ENSG00000163288

Sequences Top

nucleotide Sequence
Protein Sequence

>GABRB1|2560|nucleotide
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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)	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

Reference	Population	#SNPs/ #VNTRs	#Families	Affecteds						Result
Reference	Population	#SNPs/ #VNTRs	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
CAUCASIAN
Ma, 2005_1	CAT, AGRE	7 (detail)	470	- (-)			ASD	- (3-21)	- >35
Collins, 2006_1	USA(Non-Hispanic)	15 (detail)	557	- (-)			ASD	- (3-21)	- -
AFRICAN
Collins, 2006_2	USA	15 (detail)	54	- (-)			ASD	- (3-21)	- -

Case Control Based Association Studies: 0

Reference	Population	#SNPs/ #VNTRs	ASD Cases						Normal Controls		Result
Reference	Population	#SNPs/ #VNTRs	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
No Evidence.

Genome-Wide Association Studies(By Ethnic Group) Top

Reference	Stage	#SNPs/ #VNTRs	#Families	Affecteds	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)
No Evidence.

Reference	Stage	#SNPs/ #VNTRs	ASD Cases	Normal Controls	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)
No Evidence.

Other Low Scale Gene Studies Top

Reference	Orangnism	Tissue	ADI-R	ADOS	Diagnosis	Evidence Level
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	blood			ASD	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

Reference	Population	Tissue	#Subjects (% Women)	ADI-R	ADOS	Endo- pheno	Diagnosis	Normal Controls (% Women)	Fold Change	Up/ Down	P/Q value
No Evidence.

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
CNV Name	Chr	Band	Gain/Loss	Case	Control	Evidence Type	Reference
AutCNV0000263	4	4p12-13	gain	1	-	CNVs Only Present In Patients;	Sabaratnam, 2000

Linkage Studies Top

Linkage Name	Band	Chr	Marker	LOD	NPL	P_Value	Reference
No Matched Linkage Regions !

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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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