AutismKB 2.0

Variant Details for PARP16


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Basic Information Top
Gene Symbol:PARP16 ( C15orf30,FLJ20509,FLJ25281,pART15 )
Gene Full Name: poly (ADP-ribose) polymerase family, member 16
Band: 15q22.31
Quick LinksEntrez ID:54956; OMIM: NA; Uniprot ID:PAR16_HUMAN; ENSEMBL ID: ENSG00000138617; HGNC ID: 26040
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 4 0 0 0 0 0 4
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
AutCNV0000291 15 15q22-23 58012708 72612946 14600238 loss external link Smith, 2000
AutCNV0000274 15 15q22 58012708 67512946 9500238 loss external link Wassink, 2001
AutCNV0000110 15 15q21.2-26.3 51558408 102352477 50794069 gain external link Szatmari, 2007
AutCNV0000028 15 15q21.2-26.3 51558408 102352477 50794069 gain external link Szatmari, 2007
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