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
SV2B 15 91832784 T G NM_001167580 0.3443 neutral 0 0 0
CHD2 15 93467760 A G NM_001042572 0.9189 deleterious 0 0 0
CHD2 15 93518170 A G NM_001271 0.9766 deleterious 0.02 0.404 0.266
CHD2 15 93524620 G A NM_001271 0.8988 deleterious 0.15 0.156 0.081
CHD2 15 93536154 G A NM_001271 0.7143 deleterious 0.05 1 0.999
CHD2 15 93552420 G A NM_001271 0.8625 deleterious 0.29 1 0.997
ARRDC4 15 98509167 G C NM_183376 0.483 deleterious 0.01 0.427 0.5
ZC3H7A 16 11876164 T A NM_014153 0.9057 deleterious 0.04 0 0
RSL1D1 16 11933743 C A NM_015659 0.0297 neutral 0 0.996 0.862
CACNA1H 16 1257375 A G NM_001005407 0.9015 deleterious 0 1 0.998
CACNA1H 16 1259233 C T NM_001005407 0.6523 deleterious 0 0.027 0.007
CPPED1 16 12875152 T G NM_001099455 0.716 deleterious 0 0.998 0.995
ERCC4 16 14041797 A C NM_005236 0.3946 neutral 0.07 0.814 0.429
GNPTG 16 1412838 C T NM_032520 0.7509 deleterious 0.02 0.991 0.86
MKL2 16 14334157 C T NM_001308142 0.1611 neutral 0 0 0
MKL2 16 14340619 C T NM_001308142 0.2358 neutral 0 0 0
MKL2 16 14342897 T C NM_014048 0.2337 neutral 0 0.99 0.979
PARN 16 14723490 C T NM_001242992 0.6256 deleterious 0.38 0.374 0.153
PDXDC1 16 15100370 A G NM_001285445 0.0868 neutral 0 0 0
CLCN7 16 1510886 G T NM_001114331 0.0516 neutral 0 0.353 0.298

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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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