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
TANGO2 22 20050958 G A NM_001283235 0.2479 neutral 0 0 0
ZDHHC8 22 20130777 G A NM_001185024 0.9562 deleterious 0 1 0.999
SNAP29 22 21224680 T C NM_004782 0.8785 deleterious 0.02 0.426 0.175
LZTR1 22 21345975 C T NM_006767 0.8702 deleterious 0.17 1 0.98
LZTR1 22 21350080 G T NM_006767 0.9539 deleterious 0 1 1
PPIL2 22 22048931 G T NM_014337 0.723 deleterious 0 0.999 0.94
TOP3B 22 22312975 A G NM_001282112 0.8773 deleterious 0 0 0
ZNF280B 22 22842831 T C NM_080764 0.157 neutral 0 0.879 0.37
ZNF280B 22 22843578 A C NM_080764 0.7127 deleterious 0 0.012 0.011
PRAME 22 22892470 T C NM_001291717 0.043 neutral 0 0 0
IGLL5 22 23230296 G C NM_001178126 0.2259 neutral 0.46 0.9 0.362
IGLL5 22 23235930 G A NM_001178126 0.0837 neutral 0 0.345 0.036
IGLL1 22 23917192 G T NM_020070 0.0133 neutral 0.33 0.019 0.002
CABIN1 22 24452747 C T NM_001201429 0.5125 deleterious 0 1 0.997
CABIN1 22 24456455 C T NM_001201429 0.5125 deleterious 0 1 0.966
SPECC1L 22 24717510 C T NM_001145468 0.6838 deleterious 0 0.998 0.991
SPECC1L 22 24761563 A G NM_001254733 0.3961 neutral 0 0 0
PIWIL3 22 25123995 A G NM_001255975 0.2684 neutral 0 0.994 0.968
SGSM1 22 25246264 G T NM_001039948 0.3547 neutral 0 0.684 0.425
ADRBK2 22 26118282 G C NM_005160 0.641 deleterious 0.35 0.912 0.494

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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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