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
DDX23 12 49225047 G A NM_004818 0.0975 neutral 0.39 1 0.997
KMT2D 12 49415648 T C NM_003482 0.9983 deleterious 0 1 1
KMT2D 12 49422858 C G NM_003482 0.4395 neutral 0 0.998 0.885
KMT2D 12 49433800 C G NM_003482 0.9886 deleterious 0 0.981 0.593
TUBA1A 12 49579227 G A NM_001270400 0.9177 deleterious 0 0 0
TUBA1A 12 49579631 G A NM_001270400 0.6438 deleterious 0 0 0
KCNH3 12 49937116 C T NM_001314030 0.2575 neutral 0 0 0
ASIC1 12 50471866 G A NM_001095 0.9997 deleterious 0 1 0.974
LIMA1 12 50570945 C G NM_001243775 0.3381 neutral 0 0 0
DIP2B 12 51069223 T A NM_173602 0.9494 deleterious 0 0.904 0.434
KRT7 12 52635307 A G NM_005556 0.9735 deleterious 0 0.996 0.956
KRT81 12 52681414 C T NM_002281 0.6273 deleterious 0.02 0.678 0.458
KRT83 12 52710275 C T NM_002282 0.7289 deleterious 0 0.942 0.514
KRT85 12 52754716 G A NM_001300810 0.0687 neutral 0 0 0
KRT75 12 52825828 G A NM_004693 0.8922 deleterious 0 0.947 0.597
KRT71 12 52942001 G A NM_033448 0.6891 deleterious 0 1 0.967
TNS2 12 53454931 G A NM_170754 0.0388 neutral 0.15 0.998 0.74
SOAT2 12 53509433 G C NM_003578 0.9864 deleterious 0 1 0.999
ITGB7 12 53586569 G A NM_000889 0.27 neutral 0.06 0.938 0.417
ESPL1 12 53682043 C G NM_012291 0.6024 deleterious 0.01 1 0.998

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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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