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
SASH1 6 148711366 C T NM_015278 0.4304 deleterious 0 1 0.981
SASH1 6 148835535 C T NM_015278 0.6509 deleterious 0 1 0.997
SASH1 6 148855947 G A NM_015278 0.2865 neutral 0.18 0.989 0.968
SASH1 6 148865690 C A NM_015278 0.1186 neutral 0.04 0.001 0.001
LRP11 6 150164130 T G NM_032832 0.1706 neutral 0.36 0.008 0.006
RAET1E 6 150211107 C A NM_001243325 0.143 neutral 0 0.948 0.628
RAET1G 6 150238093 G C NM_001001788 0.0138 neutral 0 0.831 0.557
IYD 6 150690237 G A NM_001164694 0.1056 neutral 0.51 0.006 0.001
IYD 6 150710567 G C NM_001164694 0.852 deleterious 0.26 0.099 0.042
PLEKHG1 6 151151887 G A NM_001029884 0.3987 neutral 0.15 0.985 0.307
ZBTB2 6 151687957 T C NM_020861 0.9705 deleterious 0.03 0.997 0.994
SYNE1 6 152673328 C T NM_033071 0.6295 deleterious 0 1 0.999
SYNE1 6 152728223 C T NM_182961 0.021 neutral 0 0.001 0.001
SYNE1 6 152771947 G A NM_182961 0.3053 neutral 0 0.256 0.091
SYNE1 6 152779933 G A NM_182961 0.2804 neutral 0 0.917 0.224
SYNE1 6 152782817 G A NM_182961 0.754 deleterious 0 0.997 0.973
CNKSR3 6 154727783 T C NM_173515 0.7215 deleterious 0 0.324 0.119
JARID2 6 15496930 C T NM_001267040 0.7672 deleterious 0 0 0
JARID2 6 15504762 G A NM_001267040 0.0832 neutral 0 0 0
ARID1B 6 157525120 A G NM_017519 0.0736 neutral 0 0.016 0.007

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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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