AutismKB

Evidence Detail for GRIN3B


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Basic Information Top
Gene Symbol:GRIN3B ( NR3B )
Gene Full Name: glutamate receptor, ionotropic, N-methyl-D-aspartate 3B
Band: 19p13.3
Quick LinksEntrez ID:116444; OMIM: 606651; Uniprot ID:NMD3B_HUMAN; ENSEMBL ID: ENSG00000116032
Sequences Top
>GRIN3B|116444|nucleotide
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>GRIN3B|116444|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) No 0 (0) 0 (0) 1 (1) 1 (1) 0 (0) 2 (2) 17 (3)
Syndromic Autism Gene Top
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
Myers, 2011_1 human Epstein-Barr Virus transformed lymphoblastoid cell lineASD mutation screen and evolution analysis
  • Subjects: 102
  • Normal Controls: 285
  • Methods: Sanger sequencing of exon
  • Evidence Details: The gene exhibits excesses of rare variants with nominal P value.
O'Roak, 2012_1 human bloodASD Mutation screen
  • Subjects: 209 simplex pedigrees
  • Normal Controls: -
  • Methods: direct sequencing
  • Evidence Details: De novo functional mutation was found in this gene locus
Large Scale Expression Studies Top
CNV Studies Top
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000068 19p13.3 19 D19S209 - - 0.003 Schellenberg, 2006

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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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