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
HUNK 21 33346895 G A NM_014586 0.5153 deleterious 0.12 0.975 0.509
MRAP 21 33671388 C T NM_178817 0.0139 neutral 0 0.004 0.004
URB1 21 33711126 G A NM_014825 0.4235 neutral 0.09 0.138 0.009
SON 21 34945653 G A NM_138927 1 deleterious 0 1 1
CRYZL1 21 34963511 T C NM_145858 0.1382 neutral 0 0 0
ITSN1 21 35260537 T G NM_003024 0.9507 deleterious 0 0.998 0.992
MORC3 21 37711086 T G NM_015358 0.4875 neutral 0.36 0 0.005
DYRK1A 21 38845144 T C NM_001396 0.0003 neutral 0 0 0
DYRK1A 21 38845158 G C NM_001396 0.9352 deleterious 0 0.99 0.626
DYRK1A 21 38852967 C T NM_130436 0.1502 neutral 0 0.902 0.674
DYRK1A 21 38852988 G T NM_130436 0.9885 deleterious 0 0.999 0.985
DYRK1A 21 38853010 G A NM_130436 0.8903 deleterious 0 0.993 0.787
DYRK1A 21 38853080 G A NM_130436 0.8746 deleterious 0 0.006 0.009
DYRK1A 21 38858835 G A NM_130436 0.9769 deleterious 0 0.635 0.17
DYRK1A 21 38862589 G T NM_130436 0.4926 deleterious 0 0.998 0.874
DYRK1A 21 38865403 T C NM_130436 0.9931 deleterious 0 1 0.999
DYRK1A 21 38877719 G T NM_130436 0.962 deleterious 0 0.994 0.848
DYRK1A 21 38884305 C A NM_130436 0.8491 deleterious 0.29 0.879 0.373
DYRK1A 21 38884613 G T NM_130436 0.9986 deleterious 0.01 1 0.996
KCNJ6 21 39087336 T C NM_002240 0.325 neutral 0 0.062 0.013

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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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