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
SPEG 2 220353298 G T NM_005876 0.8241 deleterious 0 0.957 0.649
GMPPA 2 220367114 C T NM_013335 0.2941 neutral 0.01 0.971 0.75
GMPPA 2 220370245 C G NM_013335 0.9003 deleterious 0.03 0.955 0.589
TMEM198 2 220414569 G A NM_001005209 0.847 deleterious 0 0.999 0.886
OBSL1 2 220422963 C T NM_001173431 0.9883 deleterious 0 0 0
MOGAT1 2 223554125 T C NM_058165 0.5568 deleterious 0.96 0.001 0.009
SCG2 2 224463202 C A NM_003469 0.5125 deleterious 0.01 1 0.995
IRS1 2 227661674 C T NM_005544 0.0616 neutral 0.12 0.001 0
COL4A4 2 227915847 C T NM_000092 0.7425 deleterious 0 0 0
COL4A3 2 228120751 G A NM_000091 0.9964 deleterious 0 1 1
TRIP12 2 230636299 G A NM_001284216 0.825 deleterious 0 0 0
TRIP12 2 230650558 C T NM_001284216 0.5859 deleterious 0 0 0
TRIP12 2 230667043 G A NM_001284215 0.0748 neutral 0 0 0
FBXO36 2 230841011 C T NM_174899 0.5317 deleterious 0.01 1 0.996
SP110 2 231074661 G A NM_004509 0.15 neutral 0 0.506 0.083
SP140 2 231103053 G T NM_001005176 0.0166 neutral 0 0.09 0.005
SP100 2 231326031 G A NM_001206704 0.0632 neutral 0 0.114 0.011
DIS3L2 2 233103250 C A NM_001257281 0.2405 neutral 0.15 0 0
ALPPL2 2 233272091 C T NM_031313 0.3322 neutral 0.01 0.994 0.956
CHRND 2 233396326 G A NM_001311195 0.1232 neutral 0 0 0

Page Counts: 100/181  
100 First  Previous  99  100  101  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