AutismKB

Evidence Detail for ADORA2A


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Basic Information Top
Gene Symbol:ADORA2A ( ADORA2,RDC8,hA2aR )
Gene Full Name: adenosine A2a receptor
Band: 22q11.23
Quick LinksEntrez ID:135; OMIM: 102776; Uniprot ID:AA2AR_HUMAN; ENSEMBL ID: ENSG00000100014,ENSG00000128271
Sequences Top
>ADORA2A|135|nucleotide
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>ADORA2A|135|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) 2 (6) 0 (0) 1 (1) 0 (0) 7 (2)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 0
Case Control Based Association Studies: 1
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
CAUCASIAN
Freitag, 2009_1 German 8 (detail) 98
(8.16%)
ASD -
-
- 234
(8.55%)
-
-
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000269 22 22q11 loss 1 - CNVs Only Present In Patients; Roubertie, 2001
AutCNV0000270 22 22q11 loss 1 - CNVs Only Present In Patients; Niklasson, 2002
AutCNV0000392 22 22q11.2 gain 1 - CNVs Only Present In Patients; Ramelli, 2008
AutCNV0003009 22 22q11.23 gain 1 - maternal Pinto, 2010
AutCNV0004026 22 22q11.23 gain 1 - CNVs Only Present In Patients; Levy, 2011
AutCNV0004393 22 22q11.23 gain 1 - CNVs Only Present In Patients; Sanders, 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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