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
DUSP11 2 73989820 A T NM_003584 0.0295 neutral 0.66 0 0
SLC4A5 2 74483044 T C NM_021196 0.9962 deleterious 0 0.04 0.1
MOGS 2 74689442 C T NM_001146158 0.2396 neutral 0 0 0
HK2 2 75101437 G A NM_000189 0.9598 deleterious 0.05 0.979 0.661
DNAH6 2 84928399 C A NM_001370 0.1076 neutral 0 1 0.997
TCF7L1 2 85529727 G T NM_031283 0.931 deleterious 0 0.985 0.905
SFTPB 2 85892817 C T NM_000542 0.0072 neutral 0 0 0
ST3GAL5 2 86067277 C A NM_001042437 0.9582 deleterious 0 0.01 0.017
PTCD3 2 86333407 C T NM_017952 0.2204 neutral 0.18 0.014 0.003
SMYD1 2 88409886 A G NM_198274 0.6759 deleterious 0 0.996 0.992
KIDINS220 2 8871599 C T NM_020738 0.9695 deleterious 0.01 0.972 0.608
TEX37 2 88828961 G A NM_152670 0.4461 neutral 0 1 0.977
ASAP2 2 9463296 A T NM_001135191 0.322 neutral 0 0.004 0.005
ASAP2 2 9467956 A G NM_001135191 0.7253 deleterious 0 1 0.998
MRPS5 2 95774145 C T NM_031902 0.4448 neutral 0.16 0.778 0.503
CPSF3 2 9588447 A C NM_016207 0.9264 deleterious 0.2 0.119 0.173
ANKRD36C 2 96610876 T C NM_001310154 0.0032 neutral 0.14 0 0
CIAO1 2 96936917 C G NM_004804 0.0375 neutral 0.33 0.754 0.101
SNRNP200 2 96944354 C T NM_014014 0.9195 deleterious 0 0.403 0.068
SNRNP200 2 96962741 T C NM_014014 0.9999 deleterious 0 1 1

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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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