AutismKB

Evidence Detail for GRIA3


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Basic Information Top
Gene Symbol:GRIA3 ( GLUR-C,GLUR-K3,GLUR3,GLURC,GluA3,MRX94 )
Gene Full Name: glutamate receptor, ionotrophic, AMPA 3
Band: Xq25
Quick LinksEntrez ID:2892; OMIM: 305915; Uniprot ID:GRIA3_HUMAN; ENSEMBL ID: ENSG00000125675
Sequences Top
>GRIA3|2892|nucleotide
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>GRIA3|2892|protein
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Evidence Statistic Top

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Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) Yes 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 1 (1) 9 (1)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceXL
OMIMMental retardation, X-linked 94 (300699)
DescriptionNon-syndromic X-linked ID; mutations as well as 3 cases of partial duplication of GRIA3 have been reported in patients with autism or autistic behavior
Reference(s)17568425; 19736351; 16840569; 17989220;
LevelLevel 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Piton, 2010_1 human bloodASD genetics: mutation screen
  • Subjects: 142( 122 males and 20 females)
  • Normal Controls: -
  • Methods: direct sequencing
  • Evidence Details: Exonic variants identified during the the screening of the 147 X-linked synapic genes
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000135 X Xq25 gain 1 - CNVs Only Present In Patients; Jacquemont, 2006
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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