AutismKB 2.0

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 LinksEntrez ID:2562; OMIM: 137192; Uniprot ID:GBRB3_HUMAN; ENSEMBL ID: ENSG00000166206; HGNC ID: 4083
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GABRB3|2562|nucleotide
ATGTGGGGCCTTGCGGGAGGAAGGCTTTTCGGCATCTTCTCGGCCCCGGTGCTGGTGGCTGTGGTGTGCTGCGCCCAGAGTGTGAACGATCCCGGGAACATGTCC
TTTGTGAAGGAGACGGTGGACAAGCTGTTGAAAGGCTACGACATTCGCCTAAGACCCGACTTCGGGGGTCCCCCGGTCTGCGTGGGGATGAACATCGACATCGCC
AGCATCGACATGGTTTCCGAAGTCAACATGGATTATACCTTAACCATGTATTTTCAACAATATTGGAGAGATAAAAGGCTCGCCTATTCTGGGATCCCTCTCAAC
CTCACGCTTGACAATCGAGTGGCTGACCAGCTATGGGTGCCCGACACATATTTCTTAAATGACAAAAAGTCATTTGTGCATGGAGTGACAGTGAAAAACCGCATG
ATCCGTCTTCACCCTGATGGGACAGTGCTGTATGGGCTCAGAATCACCACGACAGCAGCATGCATGATGGACCTCAGGAGATACCCCCTGGACGAGCAGAACTGC
ACTCTGGAAATTGAAAGCTATGGCTACACCACGGATGACATTGAGTTTTACTGGCGAGGCGGGGACAAGGCTGTTACCGGAGTGGAAAGGATTGAGCTCCCGCAG
TTCTCCATCGTGGAGCACCGTCTGGTCTCGAGGAATGTTGTCTTCGCCACAGGTGCCTATCCTCGACTGTCACTGAGCTTTCGGTTGAAGAGGAACATTGGATAC
TTCATTCTTCAGACTTATATGCCCTCTATACTGATAACGATTCTGTCGTGGGTGTCCTTCTGGATCAATTATGATGCATCTGCTGCTAGAGTTGCCCTCGGGATC
ACAACTGTGCTGACAATGACAACCATCAACACCCACCTTCGGGAGACCTTGCCCAAAATCCCCTATGTCAAAGCCATTGACATGTACCTTATGGGCTGCTTCGTC
TTTGTGTTCCTGGCCCTTCTGGAGTATGCCTTTGTCAACTACATTTTCTTTGGAAGAGGCCCTCAAAGGCAGAAGAAGCTTGCAGAAAAGACAGCCAAGGCAAAG
AATGACCGTTCAAAGAGCGAAAGCAACCGGGTGGATGCTCATGGAAATATTCTGTTGACATCGCTGGAAGTTCACAATGAAATGAATGAGGTCTCAGGCGGCATT
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>GABRB3|2562|protein
MWGLAGGRLFGIFSAPVLVAVVCCAQSVNDPGNMSFVKETVDKLLKGYDIRLRPDFGGPPVCVGMNIDIASIDMVSEVNMDYTLTMYFQQYWRDKRLAYSGIPLN
LTLDNRVADQLWVPDTYFLNDKKSFVHGVTVKNRMIRLHPDGTVLYGLRITTTAACMMDLRRYPLDEQNCTLEIESYGYTTDDIEFYWRGGDKAVTGVERIELPQ
FSIVEHRLVSRNVVFATGAYPRLSLSFRLKRNIGYFILQTYMPSILITILSWVSFWINYDASAARVALGITTVLTMTTINTHLRETLPKIPYVKAIDMYLMGCFV
FVFLALLEYAFVNYIFFGRGPQRQKKLAEKTAKAKNDRSKSESNRVDAHGNILLTSLEVHNEMNEVSGGIGDTRNSAISFDNSGIQYRKQSMPREGHGRFLGDRS
LPHKKTHLRRRSSQLKIKIPDLTDVNAIDRWSRIVFPFTFSLFNLVYWLYYVN
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Evidence summary Top

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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
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Wolpert, 2000 - STS mappingautism 3 - 3 - 3 - 3
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Silva, 2002 - FISHautism - - - - 1 - 1
Keller, 2003 USA FISHASD - - - - 2 - 2
Mann, 2004 - STS mappingPDD-NOS - - - - 2 - 2
Bolton, 2004 UK STS mappingASD - - - - 181 40 221
Sahoo, 2005 USA aCGHautism - - - - 9 - 9
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Kwasnicka-Crawford, 2007 - STS mappingautism - - - - 1 - 1
Sebat, 2007 USA aCGHautism 165 118 47 99 195 196 391
Wassink, 2007 USA FISHPDD - - - - 104 - 104
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Christian, 2008 USA aCGHASD 397 35 362 - 397 372 769
Weiss, 2008 USA, Ireland aCGH, SNP microarrayASD 751 - - - 2252 23502 25754
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Bremer, 2009 - aCGHASD - - - - 148 - 148
Pinto, 2010 - SNP microarray, qPCRASD - - - - 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 - GWASASD - - - - 6742 12544 19286
Sanders SJ, 2015 - ---ASD 2591 - - - - - -
Krumm N, 2015 - ---- 1266 - - - - - -
C Yuen RK, 2017 - WGSASD - - - - 1745 - -
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 10
Case Control Based Association Studies: 2
Reference Source Platfrom ASD Cases Normal Controls Result
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
ASIAN
Tochigi, 2007_1 Japan ABI PRISM 7900HT Sequence Detection SystemASD 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
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Alvarez-Mora MI, 2016 - Illumina MiSeqASD - - - 44 Sanger sequencing
Low Scale Gene Studies Top

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  (e.g. CHD8)

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