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
PRKD1 14 30102082 T C NM_002742 0.8391 deleterious 0 0.607 0.564
COCH 14 31346846 C T NM_001135058 0.9914 deleterious 0.1 0.973 0.867
STRN3 14 31425374 C G NM_001083893 0.0168 neutral 0 0.999 0.997
ARHGAP5 14 32560858 A C NM_001030055 0.9322 deleterious 0.05 0 0
BAZ1A 14 35231162 A C NM_182648 0.0465 neutral 0.85 0.004 0.006
INSM2 14 36005002 G T NM_032594 0.1404 neutral 0.03 0.01 0.006
RALGAPA1 14 36133877 C T NM_014990 0.0723 neutral 0 0 0
RALGAPA1 14 36133921 T G NM_014990 0.846 deleterious 0 0.972 0.771
SEC23A 14 39514393 C T NM_006364 0.5806 deleterious 0.03 0.167 0.071
GEMIN2 14 39605657 C T NM_001009182 0.1321 neutral 0.21 0.015 0.003
CTAGE5 14 39777734 A G NM_001247990 0.0619 neutral 0 0 0
LRFN5 14 42356586 G A NM_152447 0.9569 deleterious 0.01 1 0.995
KLHL28 14 45400640 A G NM_017658 0.9934 deleterious 0 0.995 0.932
FAM179B 14 45431638 C G NM_001308120 0.0902 neutral 0 0 0
FANCM 14 45650888 C T NM_001308133 0.0121 neutral 0 0 0
MDGA2 14 47311217 C T NM_182830 0.0839 neutral 0.12 0 0
NEMF 14 50307512 C A NM_001301732 0.9665 deleterious 0 0 0
SOS2 14 50655307 C T NM_006939 0.3767 neutral 0.9 0.958 0.455
SOS2 14 50655357 G C NM_006939 0.6365 deleterious 0.02 0.356 0.187
SOS2 14 50655380 C G NM_006939 0.6748 deleterious 0.06 0.886 0.335

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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


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