AutismKB

Evidence Detail for PARK2


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Basic Information Top
Gene Symbol:PARK2 ( AR-JP,LPRS2,PDJ,PRKN )
Gene Full Name: parkinson protein 2, E3 ubiquitin protein ligase (parkin)
Band: 6q25.2-q27
Quick LinksEntrez ID:5071; OMIM: 602544; Uniprot ID:PRKN2_HUMAN; ENSEMBL ID: ENSG00000185345
Sequences Top
>PARK2|5071|nucleotide
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>PARK2|5071|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 (1) 0 (0) 1 (3) 0 (0) 0 (0) 1 (1) 9 (2)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage #SNPs/ #VNTRs #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery 1 (detail) 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Scheuerle, 2011_1 human blood--AS case report
  • Subjects: 2 male
  • Normal Controls: -
  • Methods: Convertional cytogenetic analysis, FISH
  • Evidence Details: Presented are two cases which reinforce the observed relationship between PAPK2 copy number abrrations and ASD, and the first reported case of a copy number gain(duplication) in this gene region specifically in a patient with ASD
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000312 6 6q26 loss 7 0 Overlapping/Recurrent CNVs; Glessner, 2009
AutCNV0001061 6 6q26 loss 1 - paternal Pinto, 2010
AutCNV0001397 6 6q26 loss 1 - paternal Pinto, 2010
AutCNV0001825 6 6q26 gain 1 - paternal Pinto, 2010
AutCNV0001062 6 6q26 gain 1 - paternal Pinto, 2010
AutCNV0001248 6 6q26 gain 1 - maternal Pinto, 2010
AutCNV0001826 6 6q26 gain 1 - paternal Pinto, 2010
AutCNV0001827 6 6q26 gain 1 - paternal Pinto, 2010
AutCNV0001828 6 6q26 gain 1 - paternal Pinto, 2010
AutCNV0001829 6 6q26 loss 1 - paternal Pinto, 2010
AutCNV0001830 6 6q26 loss 1 - paternal Pinto, 2010
AutCNV0001063 6 6q26 loss 1 - paternal Pinto, 2010
AutCNV0001249 6 6q26 loss 1 - maternal Pinto, 2010
AutCNV0001250 6 6q26 loss 1 - maternal Pinto, 2010
AutCNV0001403 6 6q26 loss 1 - paternal Pinto, 2010
AutCNV0001831 6 6q26 loss 1 - paternal Pinto, 2010
AutCNV0001832 6 6q26 loss 1 - paternal Pinto, 2010
AutCNV0001833 6 6q26 loss 1 - paternal Pinto, 2010
AutCNV0002618 6 6q26 gain 1 - maternal Pinto, 2010
AutCNV0002619 6 6q26 loss 1 - maternal Pinto, 2010
AutCNV0002620 6 6q26 loss 1 - maternal Pinto, 2010
AutCNV0002621 6 6q26 gain 1 - maternal Pinto, 2010
AutCNV0002622 6 6q26 gain 1 - maternal Pinto, 2010
AutCNV0002623 6 6q26 loss 1 - maternal Pinto, 2010
AutCNV0002624 6 6q26 gain 1 - maternal Pinto, 2010
AutCNV0003231 6 6q26 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003232 6 6q26 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003233 6 6q26 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003234 6 6q26 loss 2 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003581 6 6q26 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003582 6 6q26 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003583 6 6q26 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0002625 6 6q26 gain 1 - maternal Pinto, 2010
AutCNV0003235 6 6q26 loss 1 - paternal Gai, 2011
AutCNV0003236 6 6q26 gain 2 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003584 6 6q26 loss 2 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003585 6 6q26 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003586 6 6q26 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003587 6 6q26 loss 2 - Overlapping/Recurrent CNVs; Gai, 2011
Linkage Studies Top

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  (e.g. NLGN4X)

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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