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
PHRF1 11 610966 C G NM_001286583 0.0079 neutral 0 0 0
CPSF7 11 61187420 C T NM_001136040 0.173 neutral 0 0.016 0.002
SYT7 11 61290653 T C NM_004200 0.9758 deleterious 0 0.988 0.954
SYT7 11 61295579 C T NM_004200 0.6789 deleterious 0.48 0.272 0.056
SYT7 11 61300522 C T NM_001300773 0.0843 neutral 0 0 0
FADS3 11 61646061 C T NM_021727 0.5457 deleterious 0.13 0.975 0.746
SCGB1D1 11 61959705 C T NM_006552 0.0012 neutral 0.1 0.004 0.009
AHNAK 11 62297085 G A NM_001620 0.913 deleterious 0.07 0.999 0.988
C11orf42 11 6231119 C T NM_173525 0.3698 neutral 0.12 1 0.998
TUT1 11 62358947 A C NM_022830 0.1207 neutral 0 0.302 0.143
FAM160A2 11 6239889 C T NM_001098794 0.7735 deleterious 0.38 0.981 0.513
HNRNPUL2 11 62490296 C T NM_001079559 0.0393 neutral 0.07 0.683 0.322
CHRM1 11 62677944 C A NM_000738 0.7269 deleterious 0.02 0.616 0.281
SLC22A24 11 62850754 C T NM_001136506 0.0006 neutral 0 0 0
SLC22A9 11 63177324 C T NM_080866 0.9905 deleterious 0 1 1
C11orf84 11 63585723 A G NM_138471 0.0289 neutral 0 0 0.001
MARK2 11 63666549 A C NM_017490 0.9991 deleterious 0 0.997 0.948
SMPD1 11 6412699 C A NM_001007593 0.142 neutral 0 0.524 0.191
SLC22A11 11 64331869 G T NM_001307985 0.9932 deleterious 0 0 0
NRXN2 11 64453180 C T NM_138732 0.0253 neutral 0 0.719 0.057

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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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