Evidence Details 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:	15q12
Quick Links	Entrez ID:2562; OMIM: 137192; Uniprot ID:GBRB3_HUMAN; ENSEMBL ID: ENSG00000166206; HGNC ID: 4083
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>GABRB3|2562|nucleotide
ATGTGGGGCCTTGCGGGAGGAAGGCTTTTCGGCATCTTCTCGGCCCCGGTGCTGGTGGCTGTGGTGTGCTGCGCCCAGAGTGTGAACGATCCCGGGAACATGTCC
TTTGTGAAGGAGACGGTGGACAAGCTGTTGAAAGGCTACGACATTCGCCTAAGACCCGACTTCGGGGGTCCCCCGGTCTGCGTGGGGATGAACATCGACATCGCC
AGCATCGACATGGTTTCCGAAGTCAACATGGATTATACCTTAACCATGTATTTTCAACAATATTGGAGAGATAAAAGGCTCGCCTATTCTGGGATCCCTCTCAAC
CTCACGCTTGACAATCGAGTGGCTGACCAGCTATGGGTGCCCGACACATATTTCTTAAATGACAAAAAGTCATTTGTGCATGGAGTGACAGTGAAAAACCGCATG
ATCCGTCTTCACCCTGATGGGACAGTGCTGTATGGGCTCAGAATCACCACGACAGCAGCATGCATGATGGACCTCAGGAGATACCCCCTGGACGAGCAGAACTGC
ACTCTGGAAATTGAAAGCTATGGCTACACCACGGATGACATTGAGTTTTACTGGCGAGGCGGGGACAAGGCTGTTACCGGAGTGGAAAGGATTGAGCTCCCGCAG
TTCTCCATCGTGGAGCACCGTCTGGTCTCGAGGAATGTTGTCTTCGCCACAGGTGCCTATCCTCGACTGTCACTGAGCTTTCGGTTGAAGAGGAACATTGGATAC
TTCATTCTTCAGACTTATATGCCCTCTATACTGATAACGATTCTGTCGTGGGTGTCCTTCTGGATCAATTATGATGCATCTGCTGCTAGAGTTGCCCTCGGGATC
ACAACTGTGCTGACAATGACAACCATCAACACCCACCTTCGGGAGACCTTGCCCAAAATCCCCTATGTCAAAGCCATTGACATGTACCTTATGGGCTGCTTCGTC
TTTGTGTTCCTGGCCCTTCTGGAGTATGCCTTTGTCAACTACATTTTCTTTGGAAGAGGCCCTCAAAGGCAGAAGAAGCTTGCAGAAAAGACAGCCAAGGCAAAG
AATGACCGTTCAAAGAGCGAAAGCAACCGGGTGGATGCTCATGGAAATATTCTGTTGACATCGCTGGAAGTTCACAATGAAATGAATGAGGTCTCAGGCGGCATT
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Evidence summary 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	CNV	Linkage	Association	Expression	NGS de novo	NGS Mosaic	NGS Other	Low-Scale Gene Studies	Total
Score (No. of Studies)	No	0 (0)	3 (25)	0 (0)	2 (12)	1 (1)	0 (1)	0 (0)	0 (1)	3 (4)	41 (44)

Syndromic Autism Gene Top

Genome-Wide Association Studies(By Ethnic Group) Top

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

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

CNV Studies Top

Reference	Source	Method	ADI-R	ADOS	Diagnosis	Family				Individual
Reference	Source	Method	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Control	Affected	Control	Total
Wolpert, 2000	-	STS mapping			autism	3	-	3	-	3	-	3
Wassink, 2001	USA	Chromosomal analysis of G-band			autism	-	-	-	-	278	-	278
Silva, 2002	-	FISH			autism	-	-	-	-	1	-	1
Keller, 2003	USA	FISH			ASD	-	-	-	-	2	-	2
Mann, 2004	-	STS mapping			PDD-NOS	-	-	-	-	2	-	2
Bolton, 2004	UK	STS mapping			ASD	-	-	-	-	181	40	221
Sahoo, 2005	USA	aCGH			autism	-	-	-	-	9	-	9
Jacquemont, 2006	France	aCGH			ASD	-	-	-	-	29	-	29
Kwasnicka-Crawford, 2007	-	STS mapping			autism	-	-	-	-	1	-	1
Sebat, 2007	USA	aCGH			autism	165	118	47	99	195	196	391
Wassink, 2007	USA	FISH			PDD	-	-	-	-	104	-	104
Szatmari, 2007	Europe, North America	SNP microarray			ASD	1491	-	-	-	-	-	0
Marshall, 2008	-	SNP microarray			ASD	427	238	189	-	427	500	927
Christian, 2008	USA	aCGH			ASD	397	35	362	-	397	372	769
Weiss, 2008	USA, Ireland	aCGH, SNP microarray			ASD	751	-	-	-	2252	23502	25754
Bucan, 2009	USA	SNP microarray			autism, ASD	912	-	912	-	-	1488	1488
Gregory, 2009	USA	aCGH			ASD	-	-	-	-	119	54	173
Bremer, 2009	-	aCGH			ASD	-	-	-	-	148	-	148
Pinto, 2010	-	SNP microarray, qPCR			ASD	-	-	-	-	996	1287	2283
Levy, 2011	Simons Simplex Collection	aCGH	-	-	ASD	915	915	-	-	-	-	-
Sanders, 2011	Simons Simplex Collection	SNP microarray	-	-	ASD	1127	1127	-	-	-	-	-
Hadley D, 2014	-	GWAS			ASD	-	-	-	-	6742	12544	19286
Sanders SJ, 2015	-	-	-	-	ASD	2591	-	-	-	-	-	-
Krumm N, 2015	-	-	-	-	-	1266	-	-	-	-	-	-
C Yuen RK, 2017	-	WGS			ASD	-	-	-	-	1745	-	-

Linkage Studies Top

Reference	Source	Method	ADI-R	ADOS	Diagnosis	Family	Individual
Total	Simplex	Multiplex	Control	Affected	Control	Total
No Matched Linkage Regions !

Low Scale Association Studies (by Ethnic Group) Top

Family Based Association Studies: 10

Reference	Source	Platform	#Families	Affecteds						Result
Reference	Source	Platform	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
CAUCASIAN
Maestrini, 1999_1	UK(mixed)	PCR	99	192 (-)			ASD	- -	- -
Menold, 2001_1	USA	OLA probem, Hitachi flouorimager	226	- (-)			ASD	- -	- -
Buxbaum, 2002_1	SARC, AGRE	PCR	80	141 (21.28%)			ASD	7.45±3.49 -	- -
McCauley, 2004_1	AGRE	FP-TDI or TaqMan	123	- (-)			AD	>4 -	- -
Ma, 2005_1	CAT, AGRE	TaqMan assay	470	- (-)			ASD	- (3-21)	- >35
Ashley-Koch, 2006_1	USA	TaqMan, using	470	- (-)			AD	- (3-21)	- -
Curran, 2006_1	Unknown	-	148	- (-)			ASD	7.75±3.08 -	- -
Delahanty, 2009_1	USA	Applied Biosystems (ABI, Foster City, CA, USA) TaqMan Assays-on-Demand, ABI 7900HT instrument	1152	- (-)			ASD	- -	- -
ASIAN
Kim, 2006_1	Korea	TaqMan genotyping assay, ABI7900HT sequence detection system	104	- (-)			ASD	- -	- -
Yoo, 2009_1	Korean	Invitrogen Easy-DNA Kit, PCR	58	58 (18.97%)			ASD	5.5±4.1 -	- -

Case Control Based Association Studies: 2

Reference	Source	Platfrom	ASD Cases					Normal Controls		Result
Reference	Source	Platfrom	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
ASIAN
Tochigi, 2007_1	Japan	ABI PRISM 7900HT Sequence Detection System			ASD	19.9±9.8 -	-	412 (66.99%)	36±11.5 -
Yoo, 2009_1	Korean	-			ASD	5.5 ± 4.1 -	-	86 (17.44%)	33.6±9.3 -

Large Scale Expression Studies Top

Microarray Studies: 1

Reference	Source	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	Source	Tissue	Platform	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Normal Controls(% Women)
No Evidence.

NGS de novo Mutation Studies Top

Reference	Case Number	Family Number	de novo Number	Title
De Rubeis S, 2014	2270	-	1702	Synaptic, transcriptional and chromatin genes disrupted in autism

NGS Mosaic SNV Studies Top

Reference	Case Number	Family Number	Mosaic Number	Title
No matched NGS Mosaic SNVs!

NGS Other Studies Top

Reference	Source	Platform	ADI-R	ADOS	Diagnosis	Family			Affected	Validation Method
Reference	Source	Platform	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Affected	Validation Method
Alvarez-Mora MI, 2016	-	Illumina MiSeq			ASD	-	-	-	44	Sanger sequencing

Low Scale Gene Studies Top

Reference	Organism	Tissue	ADI-R	ADOS	Diagnosis	Evidence Level	Result
No Evidence.

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

Studies: 1,036
Genes: 1,379
CNVs/SVs: 5,420
SNVs/Indels: 11,669
de novo Mutations: 5,669
Mosaics: 789
Linkage Regions: 172

Paper Collected: 6/30/2018

Last Update: 8/26/2018

AutismKB 2.0

Evidence Details for GABRB3

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics