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
TAS2R8 12 10959438 G A NM_023918 0.0797 neutral 0.03 0.75 0.558
TAS2R9 12 10961978 C T NM_023917 0.0575 neutral 0.95 0.483 0.225
MYO1H 12 109877458 C T NM_001101421 0.4755 neutral 0 1 0.999
UBE3B 12 109924375 C T NM_001270449 0.2964 neutral 0 0.36 0.139
MMAB 12 109996929 C T NM_052845 0.4564 deleterious 0 0.906 0.312
MVK 12 110023830 G T NM_001301182 0.8702 deleterious 0 0 0
FAM222A 12 110206986 C T NM_032829 0.4047 neutral 0 0.562 0.275
TRPV4 12 110222127 G A NM_001177433 0.7126 deleterious 0 1 0.978
GIT2 12 110397718 G T NM_001135214 0.9617 deleterious 0 1 1
IFT81 12 110566766 G A NM_001143779 0.4974 deleterious 0 0 0
ANAPC7 12 110820727 G A NM_001137664 0.3236 neutral 0.04 0.994 0.742
GPN3 12 110893672 T C NM_016301 0.627 deleterious 0.64 0.001 0.012
RAD9B 12 110952892 C G NM_001286531 0.0674 neutral 0 0 0
ACAD10 12 112187030 G T NM_025247 0.5747 deleterious 0 0.628 0.288
TRAFD1 12 112583447 A C NM_001143906 0.1664 neutral 0.01 1 0.993
HECTD4 12 112600303 C T NM_001109662 0.5145 deleterious 0 0 0
PTPN11 12 112926270 C T NM_002834 0.9864 deleterious 0.01 1 0.994
PTPN11 12 112926887 G A NM_002834 0.9864 deleterious 0.01 1 0.999
PTPN11 12 112926888 G A NM_002834 0.9864 deleterious 0.02 1 0.999
DTX1 12 113515286 G A NM_004416 0.9959 deleterious 0 1 0.999

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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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