AutismKB 2.0

View de novo Variants from PubMed ID: 27862604


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
AutG2066ERBB4
AutG57107PDSS2
AutG55084SOBP
AutG10777ARPP21
AutG23480SEC61G
AutG1956EGFR
AutG64420SUSD1
AutG23233EXOC6B
LINC00478
MIR99AHG
AutG23001WDFY3
AutG9760TOX
AutG55733HHAT
AutG57282SLC4A10
AutG254827NAALADL2
AutG2904GRIN2B
AutG904CCNT1

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