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
KAT6B 10 76781848 C A NM_012330 0.0751 neutral 1 0 0.001
KAT6B 10 76789588 A G NM_001256469 0.9811 deleterious 0 0 0
KCNMA1 10 78869948 A C NM_001271518 0.9289 deleterious 0 0 0
KCNMA1 10 78870005 C T NM_001271518 0.2286 neutral 0 0 0
RPS24 10 79814442 T A NM_001142285 0.0052 neutral 0 0.388 0.121
TAF3 10 8006519 G C NM_031923 0.1648 neutral 0.56 0.181 0.024
SFTPD 10 81702258 G A NM_003019 0.6319 deleterious 0.84 0.917 0.353
CDHR1 10 85972932 A G NM_001171971 0.9728 deleterious 0.03 0.023 0.01
CCSER2 10 86131994 G A NM_001284240 0.3943 neutral 0 0 0
LARP4B 10 871029 G T NM_015155 0.1986 neutral 0 0 0
LDB3 10 88478538 G T NM_001080114 0.5125 deleterious 0.27 0.884 0.292
MMRN2 10 88703271 C T NM_024756 0.2049 neutral 0.11 0.913 0.158
GLUD1 10 88819023 T C NM_005271 0.9875 deleterious 0 1 0.992
PAPSS2 10 89504934 G T NM_004670 0.9919 deleterious 0 0.094 0.19
ATAD1 10 89552422 T C NM_032810 0.145 neutral 0 0 0
PTEN 10 89692790 G A NM_001304717 0.4072 neutral 0 0 0
PTEN 10 89692818 T C NM_000314 0.9968 deleterious 0 1 0.998
PTEN 10 89692836 A T NM_000314 0.9954 deleterious 0 1 0.999
PTEN 10 89692908 C T NM_000314 0.9811 deleterious 0 1 0.999
STAMBPL1 10 90668462 A T NM_020799 0.3455 neutral 0 1 0.999

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  (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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