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
CSNK1E 22 38694937 C T NM_001894 0.9993 deleterious 0 0 0
CSNK1E 22 38696888 T A NM_001894 0.8718 deleterious 0 0 0
DDX17 22 38884082 G A NM_001098504 0.8481 deleterious 0 0 0
CACNA1I 22 40069085 G A NM_001003406 0.9046 deleterious 0 1 0.995
CACNA1I 22 40075841 G A NM_001003406 0.0829 neutral 0 0.001 0.001
MKL1 22 40816525 T C NM_001282661 0.0018 neutral 0 0 0
ST13 22 41223218 C T NM_001278589 0.0204 neutral 0 0 0
ST13 22 41231637 G C NM_001278589 0.0257 neutral 0 0 0
EP300 22 41536148 C A NM_001429 0.9845 deleterious 0.08 0.996 0.952
TOB2 22 41832929 C T NM_016272 0.3149 neutral 0.23 0.209 0.064
DESI1 22 42003310 C A NM_015704 0.5152 deleterious 0.2 0 0
SREBF2 22 42271378 A C NM_004599 0.9922 deleterious 0.01 1 0.997
SREBF2 22 42294664 A G NM_004599 0.0059 neutral 1 0 0.001
RRP7A 22 42914033 T C NM_015703 0.9565 deleterious 0 1 0.999
SCUBE1 22 43607047 C T NM_173050 0.9126 deleterious 0.02 1 1
EFCAB6 22 44004465 C T NM_198856 0.1371 neutral 0 0 0
PKDREJ 22 46652879 T C NM_006071 0.6196 deleterious 0.39 1 0.993
CELSR1 22 46777752 C T NM_014246 0.5536 deleterious 0.05 1 1
CELSR1 22 46795678 T G NM_014246 0.4518 deleterious 0.27 0.131 0.145
GRAMD4 22 47068805 G A NM_015124 0.238 neutral 0 0.843 0.21

Page Counts: 116/181  
116 First  Previous  115  116  117  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