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
NBAS 2 15417139 T A NM_015909 0.8866 deleterious 0 0.999 0.94
GPD2 2 157427677 C T NM_000408 0.8106 deleterious 0 0.013 0.05
CYTIP 2 158272559 C T NM_004288 0.1014 neutral 0.59 0.019 0.001
BAZ2B 2 160231217 A C NM_001289975 0.0802 neutral 0 0 0
TBR1 2 162273603 A G NM_006593 0.9691 deleterious 0 0.993 0.986
TBR1 2 162274307 G T NM_006593 0.9874 deleterious 0 1 1
TBR1 2 162275553 A C NM_006593 0.9879 deleterious 0 0.999 0.995
TBR1 2 162276743 A G NM_006593 0.9691 deleterious 0 0.993 0.973
IFIH1 2 163174408 T G NM_022168 0.0074 neutral 0.58 0.002 0.011
KCNH7 2 163241305 A C NM_033272 0.1627 neutral 0.62 0.008 0.009
KCNH7 2 163302876 G C NM_173162 0.9832 deleterious 0 1 0.994
SCN3A 2 165950891 C T NM_001081676 0.8897 deleterious 0 1 0.997
SCN3A 2 166011075 C T NM_001081676 0.9993 deleterious 0 1 0.998
SCN2A 2 166152367 G A NM_001040142 0.6774 deleterious 0 0.43 0.242
SCN2A 2 166152578 A G NM_001040142 0.9878 deleterious 0 0.998 0.996
SCN2A 2 166166923 C T NM_001040142 0.9996 deleterious 0 1 0.999
SCN2A 2 166170189 C T NM_001040142 0.9873 deleterious 0 1 1
SCN2A 2 166170231 G A NM_001040142 0.9976 deleterious 0 1 0.999
SCN2A 2 166201312 G A NM_001040142 0.9987 deleterious 0 1 0.999
SCN2A 2 166211152 A T NM_001040142 0.889 deleterious 0 0.997 0.964

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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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