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
MAST4 5 66400357 G C NM_001290226 0.9795 deleterious 0 0 0
SLC30A5 5 68417634 C G NM_022902 0.047 neutral 0.52 0.268 0.226
MCCC2 5 70900233 C G NM_022132 0.962 deleterious 0 0.828 0.48
MAP1B 5 71491094 G T NM_005909 0.9116 deleterious 0.16 0.033 0.037
MAP1B 5 71494926 C T NM_005909 0.9632 deleterious 0 0.769 0.507
ARHGEF28 5 73144882 C T NM_001244364 0.2981 neutral 0 1 0.97
ARHGEF28 5 73153552 G A NM_001244364 0.9508 deleterious 0 1 0.999
GFM2 5 74017586 G T NM_170691 0.7684 deleterious 0 0.997 0.884
FAM169A 5 74101028 C T NM_015566 0.635 deleterious 0.01 0.998 0.845
COL4A3BP 5 74721237 A G NM_005713 0.4536 neutral 0 0.001 0.001
COL4A3BP 5 74801861 A C NM_001130105 0.0206 neutral 0 0.173 0.05
POC5 5 74981033 A G NM_152408 0.0044 neutral 0 0.001 0.001
IQGAP2 5 75960968 G C NM_001285461 0.7687 deleterious 0 0 0
AGGF1 5 76342465 T G NM_018046 0.8638 deleterious 0.15 0.998 0.923
ADCY2 5 7707862 G A NM_020546 0.6341 deleterious 0.22 0.991 0.909
LHFPL2 5 77805897 G C NM_005779 0.0104 neutral 0.4 0 0
JMY 5 78595988 C T NM_152405 0.0748 neutral 0 0.979 0.409
FASTKD3 5 7867278 C T NM_024091 0.0904 neutral 0.62 0.017 0.012
PAPD4 5 78975417 G C NM_001297745 0.7585 deleterious 0 0 0
MSH3 5 80169078 G A NM_002439 0.6496 deleterious 0 0.967 0.82

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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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