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
AMDHD2 16 2578297 C T NM_001145815 0.8011 deleterious 0 0.999 0.931
C16orf82 16 27078590 G A NM_001145545 0.0193 neutral 0 0 0
IL4R 16 27374696 C T NM_001257997 0.004 neutral 0 0 0
GTF3C1 16 27517395 G T NM_001286242 0.8409 deleterious 0 0 0
SRRM2 16 2806450 C T NM_016333 0.9275 deleterious 0 1 0.948
SRRM2 16 2813215 C T NM_016333 0.1135 neutral 0.83 0.009 0.004
SRRM2 16 2814953 G A NM_016333 0.6385 deleterious 0.06 0.983 0.708
SRRM2 16 2815676 C A NM_016333 0.2281 neutral 0.1 0.61 0.135
SRRM2 16 2817038 C G NM_016333 0.9167 deleterious 0.01 0.963 0.624
APOBR 16 28509202 A G NM_018690 0.0061 neutral 0 0 0
PRSS21 16 2871093 G A NM_144956 0.0049 neutral 0 0.171 0.035
NFATC2IP 16 28967316 C A NM_032815 0.2086 neutral 0 0.999 0.936
MAPK3 16 30128162 G A NM_001040056 0.0055 neutral 0 0.174 0.063
MAPK3 16 30128549 C T NM_001040056 0.9868 deleterious 0 1 0.989
ITGAL 16 30529146 G A NM_002209 0.3204 neutral 0 1 0.999
PRR14 16 30666220 G A NM_024031 0.1116 neutral 0 0.061 0.029
FBRS 16 30676715 A C NM_001105079 0.5129 deleterious 0 0 0
SRCAP 16 30718664 G A NM_006662 0.7286 deleterious 0 1 0.999
SRCAP 16 30740318 G A NM_006662 0.1752 neutral 0.05 0.741 0.078
SRCAP 16 30747939 G C NM_006662 0.2072 neutral 0.04 0.995 0.936

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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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