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
PLEC 8 144995036 C G NM_201381 0.0855 neutral 0 1 0.998
PLEC 8 144998708 G A NM_201381 0.7985 deleterious 0 1 0.998
OPLAH 8 145110038 C T NM_017570 0.7719 deleterious 0 1 1
DGAT1 8 145540331 G C NM_012079 0.7223 deleterious 0 0.89 0.525
SCRT1 8 145557230 G A NM_031309 0.4356 neutral 0 0.997 0.756
FBXL6 8 145580321 C T NM_024555 0.1084 neutral 0 0.003 0.001
CYHR1 8 145677925 C T NM_138496 0.8718 deleterious 0.16 1 0.998
LRRC14 8 145745111 T C NM_001272036 0.0406 neutral 0 0 0
LRRC14 8 145746113 G A NM_001272036 0.1502 neutral 0 0 0
ZNF250 8 146107658 T C NM_001109689 0.3864 neutral 0 0.997 0.994
ZNF16 8 146157104 C G NM_001029976 0.0929 neutral 0.02 0.995 0.879
DLGAP2 8 1497496 A G NM_001277161 0.0415 neutral 0 0 0
DLGAP2 8 1624708 G C NM_001277161 0.8341 deleterious 0 0 0
ZDHHC2 8 17055913 A G NM_016353 0.9955 deleterious 0 0.988 0.796
CLN8 8 1719291 G A NM_018941 0.9244 deleterious 0.44 0.999 0.849
MTUS1 8 17513464 G A NM_001001924 0.9017 deleterious 0 0.354 0.139
MTUS1 8 17612686 A C NM_001001924 0.0342 neutral 0 0.759 0.328
FGL1 8 17731961 G T NM_004467 0.0936 neutral 0 0 0
ARHGEF10 8 1806141 A G NM_001308152 0.0066 neutral 0 0 0
ARHGEF10 8 1877564 G A NM_014629 0.8669 deleterious 0 0.999 0.977

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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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