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
NLGN3 X 70375069 C T NM_001166660 0.9292 deleterious 0 0.991 0.953
NLGN3 X 70389790 G A NM_001166660 0.997 deleterious 0 1 0.999
ZMYM3 X 70470552 T C NM_001171162 0.8472 deleterious 0 0.996 0.981
RLIM X 73812083 T C NM_016120 0.8987 deleterious 0.01 0 0
MAGEE1 X 75649236 A T NM_020932 0.0067 neutral 0.02 0.983 0.284
ATRX X 76814250 C T NM_138270 0.161 neutral 0 0.999 0.994
ATRX X 76938923 G C NM_138270 0.0211 neutral 0 0.081 0.054
ATRX X 76939069 G C NM_138270 0.0507 neutral 0 0.924 0.518
COX7B X 77158235 G A NM_001866 0.0515 neutral 0.77 0.041 0.039
COX7B X 77158244 T C NM_001866 0.6116 deleterious 0 0.974 0.869
TBX22 X 79279657 G A NM_001109878 0.9667 deleterious 0 0 0
POU3F4 X 82764282 T C NM_000307 0.9532 deleterious 0 1 0.998
VCX3B X 8434419 G A NM_001001888 0.0869 neutral 0 0 0
CHM X 85233895 C T NM_000390 0.6339 deleterious 0.72 0.031 0.015

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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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