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
HTR7 10 92509055 G A NM_000872 0.6869 deleterious 0.38 0.074 0.038
CYP26A1 10 94836446 A G NM_057157 0.1915 neutral 0 0 0
MYOF 10 95079735 G C NM_133337 0.0178 neutral 0 0.918 0.835
HELLS 10 96322608 A G NM_001289068 0.0088 neutral 0 0 0
CYP2C18 10 96447920 C T NM_000772 0.2488 neutral 0 1 0.973
CYP2C8 10 96827403 T C NM_001198853 0.0062 neutral 0 0 0
SORBS1 10 97194397 C G NM_001034954 0.7362 deleterious 0 0.997 0.956
ALDH18A1 10 97371016 C G NM_001017423 0.0288 neutral 0.02 0.005 0.007
TCTN3 10 97446866 C T NM_001143973 0.016 neutral 0 0.03 0.01
DNTT 10 98064396 C T NM_001017520 0.9657 deleterious 0 1 1
C10orf12 10 98741973 A G NM_015652 0.4583 neutral 0.19 0.975 0.591
C10orf12 10 98744251 G C NM_015652 0.1509 neutral 0.26 0.367 0.11
ARHGAP19 10 99024633 G A NM_001256423 0.5524 deleterious 0 1 0.991
RRP12 10 99160118 C T NM_001145114 0.0217 neutral 0 0.861 0.146
HOGA1 10 99361725 G A NM_001134670 0.9278 deleterious 0 1 0.985
PI4K2A 10 99426263 C T NM_018425 0.928 deleterious 0.04 1 0.999
CNTN5 11 100168410 T A NM_175566 0.017 neutral 0 0 0
TRPC6 11 101340218 C A NM_004621 0.009 neutral 0.36 0 0
MUC6 11 1016042 C G NM_005961 0.0247 neutral 0.61 0 0
MUC6 11 1016288 G C NM_005961 0.0062 neutral 0.38 0.271 0.073

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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