AutismKB

Evidence Detail for AVPR1A


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Basic Information Top
Gene Symbol:AVPR1A ( AVPR1 )
Gene Full Name: arginine vasopressin receptor 1A
Band: 12q14-q15
Quick LinksEntrez ID:552; OMIM: 600821; Uniprot ID:V1AR_HUMAN; ENSEMBL ID: ENSG00000166148
Sequences Top
>AVPR1A|552|nucleotide
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>AVPR1A|552|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) 0 (0) 2 (3) 2 (2) 22 (5)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 3
Case Control Based Association Studies: 0
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Wassink, 2004_1 human whole bloodautism genetics: mutation screen
  • Subjects: 125
  • Normal Controls: 160
  • Methods: single-strand conformational polymorphism (SSCP) analysis
  • Evidence Details: Screening of the coding sequence revealed only one variant, a conservative T-C substitution 408 nucleotides downstream from the start codon, leaving the amino-acid F136 unchanged. This SNP is a common variant identified as rs1042615 in dbSNP.
Meyer-Lindenberg, 2008_1 human ---- protein function
  • Subjects: -
  • Normal Controls: 121
  • Methods: imaging genetics approach
  • Evidence Details: Human amygdala function is strongly associated with genetic variation in AVPR1A. Alleles in RS1 previously reported to be significantly over- and undertransmitted to autistic probands showed opposing effects on amygdala activation.
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000102 12 12q12-24.33 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
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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