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
GOLGA3 12 133381371 C G NM_001172557 0.3708 neutral 0 0.988 0.836
ZNF140 12 133682990 C T NM_001300777 0.0103 neutral 0 0 0
ZNF268 12 133779856 T G NM_001165882 0.0155 neutral 0 0 0
GRIN2B 12 13716297 T C NM_000834 0.0719 neutral 0 0.014 0.03
GRIN2B 12 13716876 C T NM_000834 0.8483 deleterious 0 0.999 0.98
GRIN2B 12 13717054 C T NM_000834 0.6407 neutral 0 1 0.999
GRIN2B 12 13764671 C T NM_000834 0.8193 deleterious 0 0.987 0.929
GRIN2B 12 13768129 A C NM_000834 0.9369 deleterious 0 1 1
GRIN2B 12 13768467 C G NM_000834 0.9369 deleterious 0 1 1
GRIN2B 12 13768551 C T NM_000834 0.9369 deleterious 0 1 1
GRIN2B 12 13768560 C T NM_000834 0.9369 deleterious 0 1 1
GRIN2B 12 14019091 C T NM_000834 0.0719 neutral 0 0.106 0.012
GUCY2C 12 14805939 C T NM_004963 0.6226 deleterious 0.25 0.927 0.463
FBXL14 12 1702929 T G NM_152441 0.3329 neutral 0.1 0.999 0.997
AEBP2 12 19592980 G T NM_001114176 0.016 neutral 0 0.012 0.015
SLCO1C1 12 20890190 G T NM_001145944 0.0905 neutral 0 0.059 0.026
SLCO1B1 12 21353467 C G NM_006446 0.0261 neutral 0.01 0.233 0.314
SLCO1B1 12 21353475 A T NM_006446 0.919 deleterious 0 0.997 0.973
CMAS 12 22215336 T C NM_018686 0.2469 neutral 0.15 0.217 0.053
SSPN 12 26377307 A G NM_005086 0.6884 deleterious 1 0.008 0.006

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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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