AutismKB 2.0

Variant Details for PRPSAP2


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Basic Information Top
Gene Symbol:PRPSAP2 ( MGC117304,MGC126719,MGC126721,PAP41 )
Gene Full Name: phosphoribosyl pyrophosphate synthetase-associated protein 2
Band: 17p11.2
Quick LinksEntrez ID:5636; OMIM: 603762; Uniprot ID:KPRB_HUMAN; ENSEMBL ID: ENSG00000141127; HGNC ID: 9467
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 5 0 0 0 0 0 5
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
AutCNV0000199 17 17p11.2 16527056 20482061 3955005 gain external link Potocki, 2007
AutCNV0000293 17 17p11.2 16457316 20524119 4066803 gain external link Nakamine, 2008
AutCNV0000374 17 17p11.2 15959275 22175873 6216598 external link Zwaag, 2009
AutCNV0002925 17 17p11.2 18824552 18962643 138091 gain external link Pinto, 2010
AutCNV0000721 17 17p11.2 16532736 20464365 3931629 gain external link Bremer, 2011
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
No related data!
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
No related data!
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