AutismKB 2.0

Variant Details for SCAPER


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SCAPER ( FLJ31533,FLJ31953,FLJ46212,KIAA1454,ZNF291,Zfp291 )
Gene Full Name: S-phase cyclin A-associated protein in the ER
Band: 15q24.3
Quick LinksEntrez ID:49855; OMIM: 611611; Uniprot ID:SCAPE_HUMAN; ENSEMBL ID: ENSG00000140386; HGNC ID: 13081
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 2 0 0 0 0 7
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
AutCNV0000028 15 15q21.2-26.3 51558408 102352477 50794069 gain external link Szatmari, 2007
AutCNV0000112 15 15q24.2-26.3 76503345 102352477 25849132 gain external link Szatmari, 2007
AutCNV0000110 15 15q21.2-26.3 51558408 102352477 50794069 gain external link Szatmari, 2007
AutCNV0000029 15 15q24.2-26.3 76503345 102352477 25849132 gain external link Szatmari, 2007
AutCNV0004323 15 15q24.3 76948284 77142762 194478 loss external link Sanders, 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
15 77020940 C T PCR or Sanger sequencing deleterious0.8388 Iossifov I, 2014
15 76726486 T C c.3244A>G p.Thr1082Ala Not_testedneutral0.0225 Takata A, 2018
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