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
CHD8 14 21868219 G A NM_020920 0.9942 deleterious 0 1 1
CHD8 14 21870652 C T NM_001170629 0.9966 deleterious 0 0 0
CHD8 14 21871618 T G NM_001170629 0.965 deleterious 0 0 0
CHD8 14 21873391 C T NM_001170629 0.999 deleterious 0 0 0
CHD8 14 21876489 C T NM_020920 0.5628 deleterious 0 0.198 0.257
CHD8 14 21876700 A G NM_020920 0.9997 deleterious 0 1 0.998
CHD8 14 21882516 G T NM_020920 0.9662 deleterious 0 0.877 0.66
CHD8 14 21899168 C T NM_001170629 0.2741 neutral 0.59 0 0
OR4E2 14 22133429 A G NM_001001912 0.346 neutral 0.03 0.927 0.831
OXA1L 14 23240676 T C NM_005015 0.8789 deleterious 0.06 1 0.99
LRP10 14 23345532 G A NM_014045 0.994 deleterious 0.03 1 0.996
LRP10 14 23346233 C T NM_014045 0.7903 deleterious 0 1 0.972
EFS 14 23829490 C T NM_005864 0.2385 neutral 0.16 0.664 0.166
IL25 14 23845075 C T NM_172314 0.5378 deleterious 0 1 0.998
MDP1 14 24683304 C A NM_138476 0.2355 neutral 0 1 1
TGM1 14 24724606 G A NM_000359 0.955 deleterious 0 0.999 0.878
TGM1 14 24724663 C T NM_000359 0.2565 neutral 0.13 0.985 0.832
NYNRIN 14 24885730 G A NM_025081 0.1765 neutral 0 0.513 0.03
FOXG1 14 29237624 C T NM_005249 0.9619 deleterious 0.08 1 0.94
FOXG1 14 29237726 C A NM_005249 0.2997 neutral 0.06 0.99 0.815

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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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