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
STIM1 11 4091409 A G NM_001277961 0.0963 neutral 0 0 0
EXT2 11 44219412 C T NM_207122 0.9449 deleterious 0 1 0.996
OR52K2 11 4471469 A C NM_001005172 0.5612 deleterious 0.01 0.999 0.993
SLC35C1 11 45827567 C G NM_001145265 0.017 neutral 0 0 0
CRY2 11 45891282 G A NM_001127457 0.9976 deleterious 0 1 1
OR51E1 11 4674652 A G NM_152430 0.1031 neutral 0.05 0 0
LRP4 11 46897495 C T NM_002334 0.4888 neutral 0.03 0.994 0.967
ARFGAP2 11 47193288 G A NM_001242832 0.6856 deleterious 0 0 0
MADD 11 47296389 G T NM_001135943 0.0174 neutral 0 0.259 0.035
MADD 11 47304002 C T NM_001135943 0.975 deleterious 0 1 1
KBTBD4 11 47595152 C T NM_016506 0.9658 deleterious 0 0.999 0.846
KBTBD4 11 47597183 T C NM_016506 0.4963 deleterious 0 0.985 0.966
AGBL2 11 47711820 A G NM_024783 0.2681 neutral 0 0.997 0.979
PTPRJ 11 48185164 A G NM_002843 1 deleterious 0 1 0.999
MMP26 11 5011021 C A NM_021801 0.2405 neutral 0 0.003 0.004
OR51L1 11 5020933 A T NM_001004755 0.4447 neutral 0 1 0.999
OR4C46 11 51515545 G C NM_001004703 0.01 neutral 0.12 0.034 0.049
HBG1 11 5269621 C T NM_000559 0.0178 neutral 0 0.998 0.849
OR51I2 11 5474867 G A NM_001004754 0.0949 neutral 0.34 0.004 0.002
OR51I2 11 5475505 C T NM_001004754 0.2289 neutral 0.01 1 0.998

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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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