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
RPRD1A 18 33611043 C A NM_001303413 0.7899 deleterious 0 0 0
DLGAP1 18 3879854 C T NM_001242761 0.9336 deleterious 0 1 0.996
SYT4 18 40854059 G A NM_020783 0.0604 neutral 0.06 0 0
SETBP1 18 42531877 G A NM_015559 0.9873 deleterious 0 1 0.997
SETBP1 18 42532022 C G NM_015559 0.5912 deleterious 0.09 0.631 0.269
EPG5 18 43535061 G A NM_020964 0.0562 neutral 0.72 0 0
CXXC1 18 47810914 G A NM_014593 0.5118 deleterious 0 1 0.924
MAPK4 18 48190687 C T NM_001292040 0.0278 neutral 0 0 0
MAPK4 18 48241495 G A NM_001292040 0.9523 deleterious 0 0 0
POLI 18 51795993 T C NM_007195 0.821 deleterious 0 0.027 0.01
DYNAP 18 52265167 G T NM_173629 0.0713 neutral 0.68 0.003 0.001
CCDC68 18 52585148 G A NM_001143829 0.5844 deleterious 0.19 0.449 0.265
EPB41L3 18 5398114 A G NM_001281533 0.1792 neutral 0 0 0
ATP8B1 18 55371870 C T NM_005603 0.209 neutral 0.02 0.031 0.01
ZNF532 18 56587446 G A NM_018181 0.7479 deleterious 0.1 0.869 0.168
KIAA1468 18 59854886 G A NM_020854 0.0573 neutral 0 0.986 0.833
DSEL 18 65179657 T C NM_032160 0.7392 deleterious 0 0 0
CCDC102B 18 66504176 C G NM_001093729 0.0846 neutral 0 0 0
LAMA1 18 7032103 C T NM_005559 0.0657 neutral 0.03 0.185 0.076
LAMA1 18 7050797 G A NM_005559 0.3161 neutral 0.18 1 0.984

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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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