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
FAM184B 4 17690072 T C NM_015688 0.0284 neutral 0.49 0.963 0.653
FAM184B 4 17706804 G A NM_015688 0.0207 neutral 0.15 0.008 0.015
FAM184B 4 17706804 G T NM_015688 0.0394 neutral 1 0.001 0.005
VEGFC 4 177650866 C T NM_005429 0.7347 deleterious 0 1 0.994
TRAPPC11 4 184601362 A G NM_021942 0.4875 neutral 0.58 0.999 0.977
STOX2 4 184930698 C A NM_020225 0.1643 neutral 0.01 0.979 0.514
PRIMPOL 4 185587102 G A NM_001300768 0.0377 neutral 0.72 0 0
SORBS2 4 186583330 A G NM_001270771 0.1325 neutral 0 0.979 0.983
FAT1 4 187518041 T C NM_005245 0.6584 deleterious 0 1 0.998
FAT1 4 187524608 T C NM_005245 0.1151 neutral 0 0.134 0.021
FAT1 4 187538324 T G NM_005245 0.203 neutral 0 0.892 0.694
FAT1 4 187549328 A T NM_005245 0.6926 deleterious 0 0.981 0.873
FAT1 4 187549364 G A NM_005245 0.8022 deleterious 0 1 0.984
FAT1 4 187557908 C T NM_005245 0.6926 deleterious 0 1 0.99
PACRGL 4 20714481 A G NM_001258345 0.0068 neutral 0 0.001 0.004
POLN 4 2195009 G A NM_181808 0.8226 deleterious 0 0.873 0.409
MXD4 4 2259719 C T NM_006454 0.8968 deleterious 0 0.975 0.904
DHX15 4 24550500 T C NM_001358 0.2969 neutral 0.3 0 0.004
CCDC149 4 24810027 C T NM_001130726 0.0102 neutral 0 0.001 0.002
FAM193A 4 2661708 G A NM_001256666 0.742 deleterious 0.14 0.951 0.371

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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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