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
ACOT12 5 80641789 C T NM_130767 0.0226 neutral 0.5 0.929 0.572
ATP6AP1L 5 81608563 T C NM_001017971 0.8241 deleterious 0 1 0.991
VCAN 5 82833531 T G NM_004385 0.0131 neutral 0.08 0.726 0.237
EDIL3 5 83433140 T G NM_001278642 0.4087 neutral 0 0 0
MEF2C 5 88018537 G C NM_001193349 0.5888 deleterious 0 0 0
MEF2C 5 88100432 T C NM_001131005 0.9929 deleterious 0 0.875 0.54
LYSMD3 5 89815108 G T NM_198273 0.2128 neutral 0.01 0.8 0.259
ADGRV1 5 89949288 G A NM_032119 0.6003 deleterious 0 0.209 0.051
ADGRV1 5 90144469 A G NM_032119 0.2038 neutral 0 0 0.001
SEMA5A 5 9050563 G C NM_003966 0.9923 deleterious 0.09 0.897 0.682
NR2F1 5 92921034 C T NM_005654 0.9707 deleterious 0 1 0.999
NR2F1 5 92929487 G A NM_005654 0.9507 deleterious 0.01 1 0.987
SEMA5A 5 9318508 C A NM_003966 0.5456 deleterious 0.03 0 0.002
FAM81B 5 94756094 G A NM_152548 0.9374 deleterious 0.22 0.999 0.964
CHD1 5 98208223 C T NM_001270 0.8312 deleterious 0.02 0.977 0.536
CHD1 5 98216794 G C NM_001270 0.9805 deleterious 0.03 0.974 0.742
GRIK2 6 102483286 A G NM_001166247 0.3423 neutral 0 0.002 0.016
HACE1 6 105224911 G A NM_020771 0.3442 neutral 0.01 1 0.936
GCNT2 6 10529778 G A NM_145649 0.9361 deleterious 0 0.998 0.99
AIM1 6 106960441 C A NM_001624 0.0617 neutral 0 0.001 0.001

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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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