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
RANBP17 5 170597192 C T NM_022897 0.4825 neutral 0.18 0.827 0.172
FBXW11 5 171337706 G C NM_033645 0.0088 neutral 0 0.001 0.005
HIGD2A 5 175816383 G A NM_138820 0.1176 neutral 0.31 0.081 0.028
FAF2 5 175921055 A G NM_014613 0.9066 deleterious 0.19 0.469 0.223
UIMC1 5 176334136 G C NM_001199297 0.2923 neutral 0 0 0
UIMC1 5 176409574 G A NM_001199297 0.2293 neutral 0 0 0
NSD1 5 176638672 T G NM_022455 0.3132 neutral 0 0.995 0.88
NSD1 5 176684041 T C NM_172349 0.8708 deleterious 0 1 1
SLC34A1 5 176813540 A G NM_001167579 0.873 deleterious 0 0 0
SLC34A1 5 176824788 C T NM_003052 0.9993 deleterious 0 0.996 0.967
ZNF354B 5 178310216 T C NM_058230 0.1524 neutral 0.03 0.997 0.879
GRM6 5 178413163 G C NM_000843 0.4854 neutral 0.74 0.881 0.51
RUFY1 5 179023604 G A NM_001040451 0.0301 neutral 0 0 0
MGAT4B 5 179225962 G A NM_014275 0.6835 deleterious 0.05 0.997 0.548
BTNL9 5 180485372 T A NM_152547 0.0379 neutral 0.4 0.103 0.065
CDH18 5 19473795 C T NM_001291956 0.2473 neutral 0 0 0
PRDM9 5 23522893 T C NM_001310214 0.5218 deleterious 0 0 0
CDH9 5 26885797 T C NM_016279 0.7245 deleterious 0 0.384 0.451
PDCD6 5 306768 G A NM_001267558 0.6784 deleterious 0 0 0
PDZD2 5 32074487 G A NM_178140 0.0035 neutral 0 0 0

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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