AutismKB 2.0

Variant Details 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; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Variant 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. Chromosome coordinates: hg19
Genetic Category CNVs/SVs de novo Mutations Mosaics SNVs NGS Other Mutations Low-Scale Gene Mutations Linkage Regions Total
Number 46 1 0 0 1 0 48
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
AutCNV0000312 6 6q26 162664586 162667011 2425 loss external link Glessner, 2009
AutCNV0002622 6 6q26 162322332 162429516 107184 gain external link Pinto, 2010
AutCNV0001063 6 6q26 162904165 162966431 62266 loss external link Pinto, 2010
AutCNV0002625 6 6q26 162717698 162909935 192237 gain external link Pinto, 2010
AutCNV0002621 6 6q26 162302567 162396659 94092 gain external link Pinto, 2010
AutCNV0001830 6 6q26 162795058 162841979 46921 loss external link Pinto, 2010
AutCNV0002620 6 6q26 161972770 162170141 197371 loss external link Pinto, 2010
AutCNV0001829 6 6q26 162746359 162889975 143616 loss external link Pinto, 2010
AutCNV0002619 6 6q26 161816660 161860664 44004 loss external link Pinto, 2010
AutCNV0001828 6 6q26 162729381 162839689 110308 gain external link Pinto, 2010
AutCNV0002618 6 6q26 161697400 161814907 117507 gain external link Pinto, 2010
AutCNV0001827 6 6q26 162702534 162914986 212452 gain external link Pinto, 2010
AutCNV0001833 6 6q26 162964645 163015279 50634 loss external link Pinto, 2010
AutCNV0001826 6 6q26 162702534 162914986 212452 gain external link Pinto, 2010
AutCNV0001832 6 6q26 162914986 162962828 47842 loss external link Pinto, 2010
AutCNV0001248 6 6q26 162724247 162914986 190739 gain external link Pinto, 2010
AutCNV0001831 6 6q26 162877216 162943061 65845 loss external link Pinto, 2010
AutCNV0001062 6 6q26 162724247 162909935 185688 gain external link Pinto, 2010
AutCNV0001403 6 6q26 163065019 163122220 57201 loss external link Pinto, 2010
AutCNV0001825 6 6q26 162575299 162983843 408544 gain external link Pinto, 2010
AutCNV0002624 6 6q26 162632171 162983843 351672 gain external link Pinto, 2010
AutCNV0001250 6 6q26 162983843 163081812 97969 loss external link Pinto, 2010
AutCNV0001397 6 6q26 161816660 161860010 43350 loss external link Pinto, 2010
AutCNV0002623 6 6q26 162355494 162621262 265768 loss external link Pinto, 2010
AutCNV0001249 6 6q26 162888704 162966431 77727 loss external link Pinto, 2010
AutCNV0001061 6 6q26 162660066 162886686 226620 loss external link Pinto, 2010
AutCNV0003583 6 6q26 162668889 163134248 465359 loss external link Gai, 2011
AutCNV0003582 6 6q26 162513436 162794024 280588 loss external link Gai, 2011
AutCNV0003581 6 6q26 162270741 162382734 111993 loss external link Gai, 2011
AutCNV0003234 6 6q26 162681744 162841979 160235 loss external link Gai, 2011
AutCNV0003587 6 6q26 162925492 162976039 50547 loss external link Gai, 2011
AutCNV0003233 6 6q26 162538351 162800665 262314 gain external link Gai, 2011
AutCNV0003586 6 6q26 162765089 162868012 102923 loss external link Gai, 2011
AutCNV0003232 6 6q26 162537866 162801345 263479 gain external link Gai, 2011
AutCNV0003585 6 6q26 162746359 162886686 140327 loss external link Gai, 2011
AutCNV0003231 6 6q26 162459571 162691418 231847 loss external link Gai, 2011
AutCNV0003584 6 6q26 162690634 162746359 55725 loss external link Gai, 2011
AutCNV0003236 6 6q26 162851519 163186361 334842 gain external link Gai, 2011
AutCNV0003235 6 6q26 162795058 162841979 46921 loss external link Gai, 2011
AutCNV0005129 6 6q26 162451920 162507690 55770 loss external link Yin CL, 2016
AutCNV0005128 6 6q26 162187125 162402914 215789 loss external link Yin CL, 2016
AutCNV0005127 6 6q26 162807682 162840211 32529 gain external link Yin CL, 2016
AutCNV0005126 6 6q26 162590018 162680306 90288 gain external link Yin CL, 2016
AutCNV0005125 14 14q11.2 21863796 21868103 4307 loss external link Stolerman ES, 2016
AutCNV0005130 6 6q26 162590018 162840211 250193 gain external link Yin CL, 2016
AutCNV0005624 6 6 loss Mercati O, 2017
NGS de novo Mutations Top
iFish (integrated Functional inference of SNVs in human) is based on gene/gene family customized models to classify missense mutations.
Chr Pos Ref Alt Coding AA Validated Method iFish Prediction iFish Probability Reference
6 162117122 C T Sanger and Sequenom Michaelson JJ, 2012
NGS Mosaic Mutations Top
Chr Position Ref Alt Genotype Validated Method Reference
No related data!
NGS Other Mutations Top
Chr Pos Ref Alt Coding AA Validated iFish Prediction iFish Probability Reference
No related data!
Low-Scale Gene Mutations Top
Chr Pos Ref Alt Coding AA Validated iFish Prediction iFish Probability Reference
Scheuerle, 2011
Linkage Regions Top
Linkage Name Band Chr Marker LOD NPL P Value Reference
No related data!




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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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