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
CT47B1 X 120009146 G T NM_001145718 0.1862 neutral 0.32 0.294 0.134
TENM1 X 123517756 T C NM_014253 0.3672 neutral 0.21 0.966 0.77
DCAF12L1 X 125685718 C T NM_178470 0.0019 neutral 0.57 0.001 0
TLR7 X 12905843 C T NM_016562 0.8122 deleterious 0.02 0.999 0.856
BCORL1 X 129149138 G A NM_001184772 0.3901 deleterious 0 0 0
IGSF1 X 130419865 C A NM_001170962 0.2587 neutral 0 0.996 0.99
SAGE1 X 134988656 C T NM_018666 0.106 neutral 0 0.987 0.292
MAP7D3 X 135310836 C T NM_001173517 0.0917 neutral 0 1 0.973
MAP7D3 X 135314112 G A NM_001173517 0.0121 neutral 0 0.17 0.028
ADGRG4 X 135431930 C A NM_153834 0.0578 neutral 0 0.816 0.273
OFD1 X 13771497 G C NM_003611 0.6761 deleterious 0.07 0.981 0.82
ATP11C X 138864752 T A NM_001010986 0.7901 deleterious 0 0.813 0.625
MAGEC1 X 140994381 C G NM_005462 0.0001 neutral 0.72 0.001 0
FMR1 X 147019073 A G NM_001185075 0.1572 neutral 0 0 0
MAGEA8 X 149013698 C T NM_001166400 0.0029 neutral 0 0 0
GPR50 X 150348482 C T NM_004224 0.7865 deleterious 0.02 0.979 0.458
PRRG3 X 150868627 C T NM_024082 0.4438 neutral 0 0.649 0.286
MAGEA4 X 151092546 T A NM_001011548 0.2718 neutral 0.02 0 0
MAGEA3 X 151935240 C A NM_005362 0.1146 neutral 0.03 0.021 0.01
MAGEA3 X 151935244 A G NM_005362 0.0026 neutral 1 0 0

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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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