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
OXTR 3 8794707 G C NM_000916 0.1384 neutral 0.21 0.016 0.011
CGGBP1 3 88104967 G A NM_001008390 0.6352 deleterious 0 0.989 0.193
EPHA3 3 89480428 C A NM_005233 0.0609 neutral 0 1 0.999
RAD18 3 8983216 G C NM_020165 0.0141 neutral 0.24 0.042 0.021
SRGAP3 3 9036106 C T NM_001033117 0.8975 deleterious 0.1 0.999 0.982
SRGAP3 3 9089078 C T NM_001033117 0.9457 deleterious 0.66 0.995 0.956
SRGAP3 3 9106142 G A NM_001033117 0.9473 deleterious 0 1 0.967
SETD5 3 9477532 A G NM_001080517 0.9636 deleterious 0 0.997 0.98
SETD5 3 9486949 G A NM_001292043 0.0772 neutral 0 0 0
SETD5 3 9517219 G C NM_001292043 0.7084 deleterious 0 0 0
SETD5 3 9517475 T G NM_001292043 0.4971 deleterious 0 0 0
OR5AC2 3 97806680 C T NM_054106 0.237 neutral 0.21 0.007 0.013
OR5H2 3 98002470 G A NM_001005482 0.0861 neutral 0 1 1
ARPC4-TTLL3 3 9854936 T A NM_001198793 0.038 neutral 1 0 0
DCBLD2 3 98600385 T C NM_080927 0.5922 deleterious 0.07 1 0.999
ARPC4-TTLL3 3 9870673 A C NM_001198793 0.7743 deleterious 0 0.217 0.188
ARPC4-TTLL3 3 9871026 C T NM_001198793 0.0277 neutral 0 0.087 0.039
ADH1B 4 100237436 T G NM_001286650 0.0005 neutral 0 0 0
WDR1 4 10117822 C T NM_005112 0.4777 deleterious 0 0 0
MANBA 4 103644163 G C NM_005908 0.9908 deleterious 0 0.999 0.987

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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