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
NCAPH 2 97020087 T G NM_001281712 0.0918 neutral 0 0 0
ARID5A 2 97215971 G T NM_212481 0.79 deleterious 0.08 0.997 0.975
ZAP70 2 98354242 C T NM_207519 0.7845 deleterious 0 0 0
CNGA3 2 99006180 G A NM_001079878 0.1936 neutral 0 0.008 0.006
INPP4A 2 99163073 T C NM_001134224 0.5759 deleterious 0.05 0.063 0.034
TSGA10 2 99681512 G A NM_025244 0.6727 deleterious 0 0 0
ANKEF1 20 10019040 C G NM_022096 0.4534 deleterious 0 1 0.998
MKKS 20 10389422 T C NM_018848 0.535 deleterious 0 0.008 0.042
MKKS 20 10393304 G T NM_018848 0.6985 deleterious 0 0.229 0.124
MKKS 20 10394147 C T NM_018848 0.3278 neutral 0 0.958 0.558
ISM1 20 13251316 T C NM_080826 0.2076 neutral 1 0.966 0.543
FLRT3 20 14306852 G A NM_013281 0.7741 deleterious 0 0 0
DEFB128 20 168558 A G NM_001037732 0.0299 neutral 0.64 0.816 0.382
RRBP1 20 17602158 G A NM_001042576 0.1335 neutral 0 0.996 0.813
SNX5 20 17923824 T C NM_001282454 0.5007 deleterious 0 0 0
SNX5 20 17928186 G A NM_001282454 0.0961 neutral 0 0 0
OVOL2 20 18005484 C A NM_021220 0.08 neutral 1 1 0.996
SLC24A3 20 19664943 C G NM_020689 0.9948 deleterious 0 0.974 0.677
SLC24A3 20 19701743 G A NM_020689 0.9904 deleterious 0 1 0.908
XRN2 20 21319718 A G NM_012255 0.9226 deleterious 0.05 0.109 0.091

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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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