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
KLHL1 13 70370894 T C NM_001286725 0.9918 deleterious 0 0 0
DIS3 13 73346895 T C NM_001128226 0.5246 deleterious 0 0.996 0.979
MYCBP2 13 77700568 A G NM_015057 0.0089 neutral 0 0 0
MYCBP2 13 77831901 C T NM_015057 0.0379 neutral 0 0 0
RBM26 13 79979891 T C NM_001286631 0.2519 neutral 0 0 0
SLITRK5 13 88327810 A G NM_015567 0.9824 deleterious 0 0.598 0.482
GPC5 13 92345513 T C NM_004466 0.9758 deleterious 0 0.999 0.978
GPC5 13 92560202 G A NM_004466 0.1592 neutral 0.38 0.126 0.059
UGGT2 13 96506641 T A NM_020121 0.8323 deleterious 0 0.992 0.983
UGGT2 13 96536926 C T NM_020121 0.9925 deleterious 0 1 0.997
EVL 14 100551047 G A NM_016337 0.6416 deleterious 0.09 1 0.91
SLC25A29 14 100758871 C T NM_001291813 0.0461 neutral 0 0 0
WDR25 14 100996272 C T NM_001161476 0.0413 neutral 0 0 0
DLK1 14 101200880 C T NM_003836 0.7332 deleterious 0 1 0.925
DYNC1H1 14 102446851 C T NM_001376 0.9772 deleterious 0.01 1 1
DYNC1H1 14 102453029 G T NM_001376 0.7834 deleterious 0.32 0.367 0.166
DYNC1H1 14 102478291 C T NM_001376 0.9779 deleterious 0.59 0.999 0.961
DYNC1H1 14 102483206 A G NM_001376 0.9779 deleterious 0 1 0.998
DYNC1H1 14 102510723 A T NM_001376 0.0913 neutral 0.21 0.001 0.006
ZNF839 14 102808176 A C NM_001267827 0.022 neutral 0 0.001 0.003

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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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