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
FAT2 5 150948279 G A NM_001447 0.7741 deleterious 0.03 1 0.928
G3BP1 5 151166215 G A NM_005754 0.0742 neutral 0 0 0
G3BP1 5 151166276 G A NM_005754 0.0793 neutral 0 0 0
G3BP1 5 151173742 A G NM_005754 0.0757 neutral 0 0 0
G3BP1 5 151180332 G A NM_005754 0.0742 neutral 0 0 0
GRIA1 5 153030052 G A NM_001258020 0.1694 neutral 0 0 0
GRIA1 5 153144076 G A NM_001258020 0.9628 deleterious 0 0 0
GEMIN5 5 154307070 G C NM_001252156 0.0053 neutral 0 0.996 0.919
ITK 5 156649954 C T NM_005546 0.8587 deleterious 0.01 0.938 0.545
ITK 5 156679654 G A NM_005546 0.4986 deleterious 0.61 0 0
CYFIP2 5 156819928 G A NM_001291721 0.988 deleterious 0 0 0
PWWP2A 5 159520099 G A NM_001130864 0.92 deleterious 0.1 0.919 0.401
ATP10B 5 160042903 G T NM_025153 0.4446 neutral 0 0.989 0.902
ATP10B 5 160049576 G A NM_025153 0.9897 deleterious 0 1 0.999
GABRG2 5 161522557 G A NM_000816 0.7671 deleterious 0 0.112 0.064
GABRG2 5 161524765 C T NM_000816 0.8666 deleterious 0 1 0.999
GABRG2 5 161576159 G A NM_000816 0.8666 deleterious 0 0.998 0.954
TENM2 5 167474474 A G NM_001122679 0.4344 neutral 0 0.858 0.334
WWC1 5 167887718 C A NM_001161661 0.0028 neutral 0.37 0.037 0.013
SLIT3 5 168180047 C T NM_001271946 0.4169 neutral 0 0 0

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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