AutismKB 2.0

View de novo Variants from PubMed ID: 29381230


Notes:
*iFish(Wang M, Wei L, PIMD: 27527004) is a supporting vector machine (SVM) based classifier which uses gene and gene family specific attributes.
iFish utilized customized prediction cutoff for each classifier that maximizes the sum of sensitivity andspecificity.


Gene ID Gene Symbol Chr Position Effect Ref Alt Coding Change Protein Change Validation iFish Probability iFish Prediction
AutG8831SYNGAP1 6 33408570 C T c.1741C>T p.R581W 0.7943 deleterious

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