AutismKB 2.0

View de novo Variants from PubMed ID: 28554332


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
AutG4204MECP2 splice c.27-6C>G
AutG287ANK2 frameshift c.4764delT p.Gln1589Lysfs
AutG2475MTOR missense c.4785G>A p.Met1595Ile
AutG8831SYNGAP1 splice c.3583-6G>A
AutG2257FGF12 missense c.341G>A p.R114H
AutG6942TCF20 frameshift c.5385_5386delTG p.Cys1795Trpfs
AutG6529SLC6A1 missense c.1352A>G p.Asp451Gly
AutG29994BAZ2B nonsense c.242C>G p.Ser81Ter
AutG58499ZNF462 missense c.5680T>G p.Cys1894Gly
AutG23001WDFY3 frameshift c.8864_8867dupTTGG p.Phe2957Trpfs
AutG22902RUFY3 frameshift c.763dupG p.Gln256Serfs
AutG1106CHD2 frameshift c.1551delC p.Gln518Argfs
AutG5528PPP2R5D missense c.592G>A p.Glu198Lys
AutG29123ANKRD11 nonsense c.6472G>T p.Glu2158Ter
AutG22983MAST1 missense c.278C>T p.Ser93Leu
AutG6513SLC2A1 frameshift c.574_575delAT p.Ile192Hisfs
AutG6334SCN8A missense c.4850G>A p.Arg1617Gln
AutG2290FOXG1 missense c.553A>T p.Ser185Cys

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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