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
SPON2 4 1164292 C T NM_001128325 0.5737 deleterious 0 0 0
NDST3 4 119154209 T A NM_004784 0.9971 deleterious 0 0.997 0.968
METTL14 4 119626841 A G NM_020961 0.7268 deleterious 0.35 0.966 0.869
SEC24D 4 119673889 G A NM_014822 0.3461 neutral 0.2 1 0.999
NDNF 4 121961207 T C NM_024574 0.9567 deleterious 0 0.999 0.97
TMEM155 4 122682720 C T NM_152399 0.0013 neutral 0 0 0
KIAA1109 4 123140507 G A NM_015312 0.9913 deleterious 0 0.998 0.928
ADAD1 4 123342540 G A NM_001159295 0.5706 deleterious 0 0 0
FGF2 4 123797538 C T NM_002006 0.9613 deleterious 0.15 0.986 0.707
SPATA5 4 124177304 T C NM_145207 0.4187 neutral 0.01 0.001 0.003
ANKRD50 4 125591221 G T NM_020337 0.8869 deleterious 0.28 0 0
FAT4 4 126240148 T A NM_001291285 0.4875 neutral 0.46 0 0
FAT4 4 126320038 A G NM_001291285 0.4875 neutral 0 0 0
FAT4 4 126336650 G A NM_001291285 0.4875 neutral 0 0 0
FAT4 4 126373570 C T NM_024582 0.4875 neutral 0 0.877 0.467
FAT4 4 126411350 C T NM_024582 0.4875 neutral 0 0.338 0.023
FAT4 4 126411443 G A NM_024582 0.5125 deleterious 0 0.998 0.994
PLK4 4 128817999 A T NM_001190801 0.4206 neutral 0 0 0
PCDH10 4 134073761 G C NM_020815 0.828 deleterious 0 0.99 0.76
UVSSA 4 1348625 C T NM_020894 0.6748 deleterious 0.02 1 0.886

Page Counts: 130/181  
130 First  Previous  129  130  131  Next  Last

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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved