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
OR4A16 11 55111500 T C NM_001005274 0.0789 neutral 0.01 0.041 0.139
UBQLN3 11 5530104 T C NM_017481 0.1855 neutral 0.09 0.102 0.04
OR4C16 11 55340387 G A NM_001004701 0.0021 neutral 0 0.003 0.004
OR5F1 11 55761926 A G NM_003697 0.8681 deleterious 0 0.736 0.357
OR5T3 11 56020303 G A NM_001004747 0.6036 deleterious 0.03 0.727 0.651
OR8H1 11 56058115 C T NM_001005199 0.0085 neutral 0.39 0.003 0.005
OR8K3 11 56086068 T C NM_001005202 0.2183 neutral 0 0.001 0.003
OR5M1 11 56380550 A C NM_001004740 0.0132 neutral 0.19 0.006 0.033
TRIM5 11 5699639 T C NM_033034 0.0159 neutral 0 0 0.006
SSRP1 11 57099680 C G NM_003146 0.9952 deleterious 0.01 0.982 0.818
CLP1 11 57428454 G T NM_001142597 0.8858 deleterious 0.15 0.851 0.518
ZDHHC5 11 57466083 G A NM_015457 0.4999 deleterious 0.22 0.003 0.005
OR6Q1 11 57798755 C T NM_001005186 0.0271 neutral 0.72 0.008 0.007
OR52N5 11 5799207 T C NM_001001922 0.0057 neutral 0.8 0.74 0.588
OR5B21 11 58275286 T C NM_001005218 0.9247 deleterious 0 0.996 0.931
OR52N2 11 5842283 T A NM_001005174 0.4431 neutral 0.01 0.698 0.654
OR52E8 11 5878672 C A NM_001005168 0.4165 neutral 0.03 0.001 0.01
MS4A6A 11 59949115 G T NM_022349 0.0632 neutral 0 0 0
MS4A10 11 60567311 G A NM_206893 0.0111 neutral 0 0.056 0.014
PHRF1 11 609438 G A NM_001286583 0.0002 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


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