AutismKB 2.0

View de novo Variants from PubMed ID: 26749308


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
AutG55217TMLHE X 154770750 molecular inversion probe rese
AutG1826DSCAM 21 42016189 molecular inversion probe rese
AutG93589CACNA2D4 12 1948914 molecular inversion probe rese
AutG57492ARID1B 6 157315964 molecular inversion probe rese
AutG80034CSRNP3 2 166253120 molecular inversion probe rese
AutG27185DISC1 1 231828151 molecular inversion probe rese
AutG55777MBD5 2 149051133 molecular inversion probe rese
AutG1144CHRND 2 233396326 missense G A molecular inversion probe rese 0.1232 neutral
AutG51111SUV420H1 11 67926275 missense G A molecular inversion probe rese 0.5290 neutral
AutG5290PIK3CA 3 178916936 missense G A molecular inversion probe rese 0.9073 deleterious
AutG7476WNT7A 3 13920617 molecular inversion probe rese
AutG4306NR3C2 4 148986808 G A molecular inversion probe rese
AutG6934TCF7L2 10 114901076 splice site G A molecular inversion probe rese
AutG57492ARID1B 6 157401254 C A molecular inversion probe rese
LOC101929653 11 131345836 molecular inversion probe rese
AutG54715RBFOX1 16 6908075 molecular inversion probe rese
AutG7204TRIO 5 14015350 molecular inversion probe rese
AutG6638SNRPN 15 25088705 molecular inversion probe rese
AutG121457IKBIP 12 99020493 missense T C molecular inversion probe rese 0.0226 neutral
AutG10055SAE1 19 47635921 molecular inversion probe rese
AutG149628PYHIN1 1 159038053 T C molecular inversion probe rese
AutG2890GRIA1 5 153030052 missense G A molecular inversion probe rese 0.1694 neutral
AutG821CANX 5 179122573 molecular inversion probe rese
AutG867CBL 11 119148951 missense G A molecular inversion probe rese 0.6375 deleterious
AutG23197FAF2 5 175921055 missense A G molecular inversion probe rese 0.9066 deleterious
AutG2770GNAI1 7 79840305 missense A G molecular inversion probe rese 0.7869 deleterious
AutG5578PRKCA 17 64410805 C T molecular inversion probe rese

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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