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
RFX3 9 3263017 G T NM_001282116 0.1153 neutral 0 0 0
NFX1 9 33366682 G A NM_002504 0.0391 neutral 0.58 0.58 0.182
UBAP2 9 33948584 G A NM_018449 0.9606 deleterious 0.09 1 0.997
KIF24 9 34259682 C T NM_194313 0.9406 deleterious 0 1 1
FAM219A 9 34401083 T A NM_001184945 0.9849 deleterious 0 1 0.999
FAM205A 9 34728650 C G NM_001141917 0.0079 neutral 0.16 0.001 0.001
VCP 9 35057454 C T NM_007126 0.9991 deleterious 0.07 0.719 0.216
VCP 9 35061615 T G NM_007126 0.9991 deleterious 0 0.99 0.954
UNC13B 9 35377646 T G NM_006377 0.7956 deleterious 0.01 0.935 0.684
RUSC2 9 35559246 T G NM_001135999 0.8135 deleterious 0 0 0
FAM166B 9 35563361 G A NM_001099951 0.4857 deleterious 0 0.999 0.862
CREB3 9 35736692 C G NM_006368 0.0614 neutral 0.04 0.02 0.025
CCIN 9 36169894 A G NM_005893 0.3147 neutral 0 0.956 0.899
CCIN 9 36170719 G C NM_005893 0.8213 deleterious 1 0.999 0.997
GNE 9 36246115 G A NM_001190384 0.8697 deleterious 0 1 0.917
MELK 9 36583642 A G NM_001256685 0.765 deleterious 0 0.985 0.907
PAX5 9 37033983 C G NM_001280547 0.9922 deleterious 0 0 0
DCAF10 9 37860178 T G NM_001286810 0.0017 neutral 0 0 0
SHB 9 37974819 T C NM_003028 0.0707 neutral 0.44 0.99 0.868
GLIS3 9 4118634 G C NM_152629 0.13 neutral 1 0.297 0.081

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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