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
HPS6 10 103825865 G A NM_024747 0.1656 neutral 0.05 0.951 0.241
HPS6 10 103826022 C T NM_024747 0.1339 neutral 0.2 0.082 0.058
PPRC1 10 103907055 C T NM_001288728 0.0157 neutral 0 0 0
PPRC1 10 103908274 C T NM_001288727 0.0069 neutral 0 0 0
GBF1 10 104129511 G A NM_001199379 0.9381 deleterious 0.3 0.998 0.75
CYP17A1 10 104595121 C T NM_000102 0.2283 neutral 0.09 0.905 0.575
CNNM2 10 104835900 G A NM_199076 0.8962 deleterious 0 0.952 0.524
NT5C2 10 104854118 C T NM_001134373 0.9226 deleterious 0.02 0 0
TAF5 10 105147781 T A NM_006951 0.9991 deleterious 0 1 0.999
PDCD11 10 105184868 G A NM_014976 0.0487 neutral 0.26 0.021 0.004
PDCD11 10 105202091 G T NM_014976 0.9963 deleterious 0 1 0.999
SH3PXD2A 10 105363080 G C NM_014631 0.0129 neutral 0 0 0.003
SLK 10 105768025 C T NM_001304743 0.935 deleterious 0 0 0
GTPBP4 10 1061781 G A NM_012341 0.6635 deleterious 0.02 0.863 0.217
SORCS1 10 108447964 C T NM_001013031 0.884 deleterious 0 0.982 0.866
ADD3 10 111872568 G A NM_001121 0.9657 deleterious 0.02 0 0
ADD3 10 111882047 C A NM_001121 0.7368 deleterious 0.01 0 0
SMC3 10 112359556 C T NM_005445 0.9551 deleterious 0.04 1 0.955
GPAM 10 113941493 G A NM_001244949 0.3733 neutral 0 0.155 0.034
ACSL5 10 114170349 G A NM_203379 0.147 neutral 0 0 0.005

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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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