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
GPR179 17 36486981 G A NM_001004334 0.1151 neutral 0 0.983 0.403
PIP4K2B 17 36927464 C T NM_003559 0.8624 deleterious 0 0.61 0.212
TCAP 17 37822174 C T NM_003673 0.6632 deleterious 0 1 0.949
P2RX1 17 3801158 C T NM_002558 0.0827 neutral 0.61 0.004 0.001
PSMD3 17 38146011 C T NM_002809 0.9341 deleterious 0 0.999 0.979
MED24 17 38178730 C T NM_001079518 0.9423 deleterious 0 0.996 0.897
THRA 17 38245626 C T NM_199334 0.9663 deleterious 0 1 0.998
RARA 17 38511626 C T NM_001145302 0.9323 deleterious 0 1 1
CCR7 17 38715177 C T NM_001838 0.0046 neutral 0.09 0.005 0.002
KRT25 17 38910124 C A NM_181534 0.4076 neutral 0.02 0.525 0.443
KRTAP1-3 17 39190953 G C NM_030966 0.0093 neutral 1 0 0
KRTAP2-3 17 39216220 G A NM_001165252 0.8137 deleterious 0.02 0.999 0.977
KRTAP9-3 17 39389177 A G NM_031962 0.0902 neutral 0.02 0 0
KRTAP9-8 17 39394306 G A NM_031963 0.1808 neutral 0.05 0.899 0.787
KRT34 17 39535950 G A NM_021013 0.8406 deleterious 0 1 0.997
KRT34 17 39538425 C T NM_021013 0.5137 deleterious 0 0.967 0.811
KRT31 17 39551197 G A NM_002277 0.9348 deleterious 0 1 0.997
KRT37 17 39577674 G A NM_003770 0.2328 neutral 0.02 0.083 0.023
KRT38 17 39595033 G C NM_006771 0.3005 neutral 0 0.234 0.171
KRT16 17 39766665 A G NM_005557 0.9928 deleterious 0.01 1 1

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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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