AutismKB 2.0

Variant Details for ZNF257


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Basic Information Top
Gene Symbol:ZNF257 ( BMZF-4,BMZF4 )
Gene Full Name: zinc finger protein 257
Band: 19p12
Quick LinksEntrez ID:113835; OMIM: 606957; Uniprot ID:ZN257_HUMAN; ENSEMBL ID: ENSG00000197134; HGNC ID: 13498
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 6 0 0 0 0 0 6
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
AutCNV0000375 19 19p12 Zwaag, 2009
AutCNV0002962 19 19p12 22250136 22352856 102720 loss external link Pinto, 2010
AutCNV0002160 19 19p12 22250136 22352856 102720 loss external link Pinto, 2010
AutCNV0003751 19 19p12 22075704 23095233 1019529 loss external link Gai, 2011
AutCNV0003750 19 19p12 22062158 23095233 1033075 loss external link Gai, 2011
AutCNV0004976 7 7q11.23 72773570 74144177 1370607 external link Sanders SJ, 2015
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