AutismKB 2.0

View Variant Prediction


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 Symbol Chr Position refNT altNT transcript iFish Probability iFish Prediction SIFT Polyhen2_HDIV Polyhen2_HVAR
PITRM1 10 3185641 G A NM_001242309 0.1531 neutral 0 0.992 0.716
ARHGAP12 10 32106768 T C NM_001270698 0.2253 neutral 0 0 0
ITGB1 10 33200439 G A NM_002211 0.637 deleterious 0.03 0 0
ITGB1 10 33224471 T C NM_002211 0.0529 neutral 0.59 0 0
ANKRD30A 10 37508345 G T NM_052997 0.0097 neutral 0.03 0 0
DIP2C 10 375509 G A NM_014974 0.992 deleterious 0.03 0.932 0.74
GDF2 10 48414275 T C NM_016204 0.0017 neutral 0 0 0
MAPK8 10 49634452 A T NM_001278548 0.7527 deleterious 0 0 0
WDFY4 10 50109868 C A NM_020945 0.765 deleterious 0 0.997 0.983
LRRC18 10 50121522 T C NM_001006939 0.0291 neutral 0 0 0.001
WDFY4 10 50174653 C T NM_020945 0.0047 neutral 0 0.007 0.009
AKR1C2 10 5032204 A G NM_001354 0.0957 neutral 0 0.593 0.51
C10orf128 10 50376004 A G NM_001010863 0.0252 neutral 0 0.002 0.007
C10orf71 10 50534797 G A NM_001135196 0.2199 neutral 0.44 0 0
ERCC6 10 50678615 T C NM_000124 0.4875 neutral 0.64 0 0
ERCC6 10 50691429 C T NM_000124 0.5125 deleterious 0 1 0.998
ERCC6 10 50691439 G A NM_000124 0.5125 deleterious 0 1 1
C10orf53 10 50887799 T C NM_001042427 0.5915 deleterious 0 1 0.999
DKK1 10 54074405 G A NM_012242 0.4552 neutral 0.21 0.784 0.203
TUBAL3 10 5437414 C G NM_001171864 0.4461 neutral 0 0.919 0.587

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  (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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