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
ANK3 10 62023648 G A NM_001204404 0.0285 neutral 0 1 0.998
PFKFB3 10 6263395 C T NM_001145443 0.5932 deleterious 0 0.989 0.526
JMJD1C 10 64967942 T C NM_032776 0.0479 neutral 0 0.001 0.001
JMJD1C 10 64968221 C T NM_032776 0.0479 neutral 0 0 0
CTNNA3 10 67829183 T C NM_001127384 0.1104 neutral 0 0 0
CTNNA3 10 69366755 C G NM_001127384 0.9818 deleterious 0 0 0
PBLD 10 70045105 C T NM_022129 0.9964 deleterious 0 1 0.995
DNA2 10 70181995 A C NM_001080449 0.9858 deleterious 0.01 0 0
TET1 10 70333978 A G NM_030625 0.5118 deleterious 0 0.991 0.813
HK1 10 71158430 G A NM_033500 0.0065 neutral 0 0.009 0.003
SFMBT2 10 7213014 G A NM_001018039 0.0109 neutral 0.25 0 0
CDH23 10 73464800 G A NM_001171930 0.9718 deleterious 0 1 0.998
CDH23 10 73537449 G A NM_022124 0.0867 neutral 0 0.997 0.939
PLA2G12B 10 74701046 T C NM_032562 0.8925 deleterious 0.01 1 0.996
MSS51 10 75184444 A G NM_001024593 0.3969 neutral 0.02 0.992 0.831
MSS51 10 75187395 G A NM_001024593 0.2689 neutral 0.06 0.896 0.694
FUT11 10 75535200 A G NM_001284194 0.0045 neutral 0.03 0 0
ZSWIM8 10 75560469 C G NM_001242488 0.4303 neutral 0 0 0
NDST2 10 75566524 C T NM_003635 0.9168 deleterious 0 0.971 0.873
VCL 10 75860760 A G NM_003373 0.9814 deleterious 0 0.982 0.974

Page Counts: 22/181  
22 First  Previous  21  22  23  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