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
TECTA 11 121039453 G A NM_005422 0.9648 deleterious 0.01 0.9 0.411
GRAMD1B 11 123477359 G A NM_001286564 0.0467 neutral 0 0 0
MICALCL 11 12371396 C G NM_032867 0.4478 neutral 0.49 0.723 0.704
MSANTD2 11 124637785 G A NM_024631 0.9769 deleterious 0 1 0.996
ROBO3 11 124740181 G A NM_022370 0.9757 deleterious 0.23 0.998 0.982
ROBO4 11 124761588 C T NM_001301088 0.0412 neutral 0 0 0
SLC37A2 11 124950640 G A NM_001145290 0.0323 neutral 0 0.001 0.008
PKNOX2 11 125281736 G A NM_022062 0.8191 deleterious 0 0.999 0.98
PUS3 11 125765418 C G NM_031307 0.8261 deleterious 0.3 0.943 0.763
PUS3 11 125765528 G A NM_031307 0.3432 neutral 0.06 0.971 0.868
DDX25 11 125791158 A G NM_013264 0.4004 neutral 0.19 0.999 0.87
CDON 11 125831706 G A NM_001243597 0.5414 deleterious 0 0.047 0.013
CDON 11 125864185 C T NM_001243597 0.5414 deleterious 0 0.999 0.997
SRPRA 11 126134982 C T NM_001177842 0.9848 deleterious 0 1 0.996
KIRREL3 11 126305185 C A NM_001161707 0.178 neutral 0 0.728 0.219
KIRREL3 11 126314888 G A NM_001161707 0.3583 neutral 0 0.328 0.124
KIRREL3 11 126314895 C G NM_001161707 0.9157 deleterious 0 0.961 0.756
KIRREL3 11 126314949 C T NM_001161707 0.8301 deleterious 0 1 0.996
KIRREL3 11 126333139 C A NM_001161707 0.4836 deleterious 0 0.06 0.082
KIRREL3 11 126333180 C T NM_001161707 0.8227 deleterious 0 0.998 0.986

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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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