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
RNF40 16 30778120 C T NM_001207034 0.9609 deleterious 0 1 0.999
SETD1A 16 30975596 C T NM_014712 0.1021 neutral 0.01 1 0.959
STX1B 16 31004756 G A NM_052874 0.4223 neutral 0.04 0.996 0.784
ZNF646 16 31091390 C T NM_014699 0.6619 deleterious 0 1 0.999
OR1F1 16 3255016 C T NM_012360 0.3053 neutral 0.02 0.219 0.304
PDIA2 16 334569 C T NM_006849 0.71 deleterious 0.02 0.999 0.93
ZNF174 16 3452387 C T NM_001032292 0.0793 neutral 0 0.25 0.323
SLX4 16 3640983 C G NM_032444 0.7692 deleterious 0.25 0.007 0.005
CREBBP 16 3786149 T C NM_001079846 0.2747 neutral 0 0 0
CREBBP 16 3820816 G A NM_001079846 0.0572 neutral 0 0 0
TMEM8A 16 426580 C T NM_021259 0.0876 neutral 0 0.032 0.006
TFAP4 16 4312614 G A NM_003223 0.984 deleterious 0 1 0.996
SHCBP1 16 46615744 G A NM_024745 0.149 neutral 0.12 0.297 0.025
VPS35 16 46716048 T C NM_018206 0.4633 deleterious 0.42 0.002 0.004
MYLK3 16 46766161 C A NM_001308301 0.0428 neutral 0 0 0
NUDT16L1 16 4744147 G A NM_001193452 0.2469 neutral 0 0 0
PHKB 16 47614206 C G NM_001031835 0.0695 neutral 0 0.013 0.034
C16orf71 16 4787868 C T NM_139170 0.2231 neutral 0.02 0.977 0.58
ABCC12 16 48174756 T C NM_033226 0.0738 neutral 1 0 0.001
ROGDI 16 4847824 C T NM_024589 0.2836 neutral 0.03 0.809 0.159

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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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