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
LDLR 19 11213417 G A NM_000527 0.9435 deleterious 0 1 1
LDLR 19 11218109 G A NM_001195800 0.9484 deleterious 0 1 1
ELAVL3 19 11577075 T A NM_001420 0.5532 deleterious 0.1 0.904 0.705
ZNF653 19 11598224 C T NM_138783 0.4088 neutral 0 0.991 0.546
CNN1 19 11658697 A G NM_001308341 0.0176 neutral 0 0 0
ZNF627 19 11725441 G A NM_145295 0.8959 deleterious 0.05 1 1
ZNF441 19 11890900 G C NM_152355 0.0114 neutral 0.54 0.178 0.007
ZNF440 19 11941128 A T NM_152357 0.5384 deleterious 0 1 0.997
ZNF44 19 12384769 C T NM_016264 0.0336 neutral 0.12 0.056 0.027
ZSWIM4 19 13915878 G A NM_023072 0.4985 neutral 0.11 0.938 0.435
C19orf57 19 13993709 C T NM_024323 0.0751 neutral 0.2 0.749 0.135
ADGRL1 19 14271102 C G NM_014921 0.6211 deleterious 0 0.991 0.954
ADGRL1 19 14273591 T C NM_014921 0.9847 deleterious 0 1 1
RPS15 19 1438831 G T NM_001018 0.9483 deleterious 0.02 0.029 0.01
CCDC105 19 15131319 G A NM_173482 0.7141 deleterious 0.01 1 0.997
NOTCH3 19 15276256 G A NM_000435 0.9953 deleterious 0 1 0.995
NOTCH3 19 15290891 T C NM_000435 0.0098 neutral 0.34 0 0.001
BRD4 19 15353791 G A NM_058243 0.3034 neutral 0.02 0.982 0.276
BRD4 19 15375549 T C NM_014299 0.9625 deleterious 0 1 0.996
CYP4F3 19 15763419 C T NM_000896 0.8051 deleterious 0 1 0.994

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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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