AutismKB 2.0

Variant Details for PSPN


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Basic Information Top
Gene Symbol:PSPN ( PSP )
Gene Full Name: persephin
Band: 19p13.3
Quick LinksEntrez ID:5623; OMIM: 602921; Uniprot ID:PSPN_HUMAN; ENSEMBL ID: ENSG00000125650; HGNC ID: 9579
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 0 1 1 0 0 1 3
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
No related data!
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
19 6375788 C T Sanger sequencingneutral0.1967 De Rubeis S, 2014
NGS Mosaic Mutations Top
Chr Position Ref Alt Genotype Validated Method Reference
19 6375788 C T Low-confidence mosaics Resequencing Lim ET, 2017
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
AutLD0000068 19p13.3 19 D19S209 - - 0.003 Schellenberg, 2006




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  (e.g. CHD8)

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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