AutismKB 2.0

Variant Details for NSF


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Basic Information Top
Gene Symbol:NSF ( SKD2 )
Gene Full Name: N-ethylmaleimide-sensitive factor
Band: 17q21.31
Quick LinksEntrez ID:4905; OMIM: 601633; Uniprot ID:NSF_HUMAN; ENSEMBL ID: ENSG00000073969; HGNC ID: 8016
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 10 0 0 0 0 0 10
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
AutCNV0000640 17 17q21.31-21.32 44417469 44766168 348699 loss external link Gregory, 2009
AutCNV0000639 17 17q21.31-21.32 44335924 44766168 430244 gain external link Gregory, 2009
AutCNV0000638 17 17q21.31-21.32 44335924 44766168 430244 gain external link Gregory, 2009
AutCNV0000637 17 17q21.31-21.32 44335924 44732210 396286 gain external link Gregory, 2009
AutCNV0000636 17 17q21.31-21.32 44335924 44766168 430244 gain external link Gregory, 2009
AutCNV0000635 17 17q21.31-21.32 44335924 44836218 500294 gain external link Gregory, 2009
AutCNV0000634 17 17q21.31-21.32 44335924 44921986 586062 loss external link Gregory, 2009
AutCNV0000633 17 17q21.31-21.32 44225637 44766168 540531 loss external link Gregory, 2009
AutCNV0000632 17 17q21.31-21.32 44225637 44766168 540531 gain external link Gregory, 2009
AutCNV0003859 17 17q21.32 44780004 45121631 341627 gain external link Levy, 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!




Simple Query:


  (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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