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
CRB2 9 126133005 C T NM_173689 0.0879 neutral 0 0.017 0.005
NR5A1 9 127262722 C T NM_004959 0.6208 deleterious 0.28 0.652 0.044
RPL35 9 127620304 G A NM_007209 0.8988 deleterious 0.03 0.677 0.12
GAPVD1 9 128092441 C G NM_001282681 0.3342 neutral 0 0 0
GAPVD1 9 128118025 C A NM_001282681 0.4688 deleterious 0 0 0
PBX3 9 128509871 G A NM_006195 0.4332 neutral 0 0.841 0.547
PBX3 9 128678099 G C NM_006195 0.9969 deleterious 0 0.967 0.892
MVB12B 9 129184210 A T NM_033446 0.9405 deleterious 0.01 0.988 0.84
FAM129B 9 130270790 C T NM_001035534 0.4959 deleterious 0 1 0.999
STXBP1 9 130444788 C T NM_001032221 0.9987 deleterious 0 1 1
TTC16 9 130487112 G A NM_001317037 0.0204 neutral 0 0 0
ENG 9 130578257 A G NM_001278138 0.9386 deleterious 0 0 0
LCN2 9 130914200 C T NM_005564 0.0525 neutral 0.05 0.12 0.025
CIZ1 9 130941377 T C NM_001257976 0.0044 neutral 0 0 0
SET 9 131446286 G C NM_001122821 0.3018 neutral 0.15 0.248 0.091
SET 9 131454235 A G NM_001248001 0.1511 neutral 0 0.056 0.117
ENDOG 9 131584651 G A NM_004435 0.9451 deleterious 0 1 1
CCBL1 9 131599143 A G NM_001122672 0.228 neutral 0 0.11 0.067
NUP188 9 131721169 A G NM_015354 0.9731 deleterious 0 1 0.997
NUP188 9 131756681 C T NM_015354 0.836 deleterious 0 1 0.987

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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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