AutismKB

Evidence Detail for GRPR


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Basic Information Top
Gene Symbol:GRPR ( - )
Gene Full Name: gastrin-releasing peptide receptor
Band: Xp22.2
Quick LinksEntrez ID:2925; OMIM: 305670; Uniprot ID:GRPR_HUMAN; ENSEMBL ID: ENSG00000126010
Sequences Top
>GRPR|2925|nucleotide
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>GRPR|2925|protein
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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 (2) 0 (0) 0 (0) 3 (4) 23 (4)
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
Ishikawa-Brush, 1997_1 human ---AD case report
  • Subjects: 1
  • Normal Controls: -
  • Methods: -
  • Evidence Details: Autism and multiple exostoses associated with an X;8 translocation occurring within the GRPR gene and 3' to the SDC2 gene
Marui, 2004_1 human -ASD genetics
  • Subjects: 71(59 males and 12 females, age range: 9–40 years(mean ¼ 24.3 years))
  • Normal Controls: 79(30 males and 49 females, age range: 20
  • Methods: PCR, direct sequence
  • Evidence Details: The allele frequencies and genotype distributions were not significantly different between the patients and controls.
Seidita, 2008_1 human -ASD genetics: mutation screen
  • Subjects: 149 Italian(133 males and 16 females)
  • Normal Controls: -
  • Methods: sequence
  • Evidence Details: The results of this study led to the identification of four novel point mutations, two of which, that is, C6S and L181F, involve amino acid changes identified in two patients with ASD and Rett syndrome, respectively.
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 149 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
AutCNV0000671 X Xp22.1-p22.3 loss 1 - CNVs Only Present In Patients; Vazna, 2010
AutCNV0000713 X Xp11.2-p22.33 gain 1 - CNVs Only Present In Patients; Edens, 2011
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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