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
CCDC40 17 78013636 G T NM_001243342 0.1602 neutral 0 0.994 0.81
CHD3 17 7803650 C G NM_001005273 0.8026 deleterious 0 0.999 0.994
RNF213 17 78263533 G A NM_001256071 0.1434 neutral 0 0 0
FAAP100 17 79517729 G A NM_025161 0.1062 neutral 0.14 0.728 0.503
ASPSCR1 17 79954601 A T NM_001251888 0.4791 deleterious 0.09 0.965 0.799
RAC3 17 79990682 G A NM_001316307 0.9562 deleterious 0 0 0
GPS1 17 80014816 G A NM_004127 0.9322 deleterious 0 1 0.986
FASN 17 80046097 T C NM_004104 0.5036 deleterious 0 0.015 0.009
FASN 17 80046737 C G NM_004104 0.9735 deleterious 0 0.301 0.547
ALOXE3 17 8021612 C A NM_001165960 0.1302 neutral 0.01 0 0.001
NARF 17 80439004 A G NM_001038618 0.3718 neutral 0 0 0
PER1 17 8044457 T C NM_002616 0.4499 neutral 0.01 0.713 0.678
FOXK2 17 80543909 C T NM_004514 0.9751 deleterious 0.23 0.507 0.078
VAMP2 17 8065581 C A NM_014232 0.5468 deleterious 0.09 0.604 0.878
ZNF750 17 80789793 C T NM_024702 0.2192 neutral 0 0.975 0.483
CTC1 17 8151329 G C NM_025099 0.8918 deleterious 0.05 0.815 0.316
PFAS 17 8166940 A C NM_012393 0.4875 neutral 0 0.992 0.894
MYH10 17 8526323 G A NM_001256012 0.9928 deleterious 0 1 1
NTN1 17 9083262 C A NM_004822 0.9875 deleterious 0.42 0.993 0.961
SPIRE1 18 12496079 C T NM_001128627 0.0343 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


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