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
PEG3 19 57325545 G C NM_001146185 0.0376 neutral 0 0 0
USP29 19 57641305 T C NM_020903 0.3085 neutral 0.39 0.728 0.285
ZNF805 19 57765985 G A NM_001145078 0.3198 neutral 0 0 0
ZNF460 19 57803573 T A NM_006635 0.0506 neutral 0 0.001 0.001
ZNF304 19 57863052 T C NM_001290318 0.0056 neutral 0 0 0
ZNF530 19 58117413 G A NM_020880 0.182 neutral 0.02 0.775 0.197
CHMP2A 19 59063080 G C NM_014453 0.1403 neutral 0.78 0 0
RFX2 19 6013032 C T NM_134433 0.058 neutral 0 0.094 0.108
RFX2 19 6044241 G A NM_000635 0.058 neutral 0.66 0.604 0.094
HCN2 19 615843 C G NM_001194 0.6528 deleterious 0 1 0.997
PSPN 19 6375788 C T NM_004158 0.1967 neutral 0.42 0.429 0.019
FGF22 19 643270 G A NM_001300812 0.8926 deleterious 0 0 0
C3 19 6678390 G C NM_000064 0.8364 deleterious 0.01 0.997 0.986
ZNF557 19 7083553 C A NM_001044388 0.0002 neutral 0 0.138 0.016
PEX11G 19 7553881 C A NM_001270539 0.8743 deleterious 0.05 0 0
LRRC8E 19 7964482 G A NM_001268285 0.4715 deleterious 0 0 0
FBN3 19 8175770 T A NM_032447 0.1729 neutral 0 0.026 0.045
FBN3 19 8183871 G A NM_032447 0.1467 neutral 0 0.039 0.005
CD320 19 8367787 T C NM_001165895 0.017 neutral 0 0.001 0.002
ANGPTL4 19 8434160 T G NM_139314 0.7712 deleterious 0 1 0.995

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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