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
SF1 11 64536710 C T NM_001178031 0.2801 neutral 0 0 0
CDC42BPG 11 64601101 T G NM_017525 0.0973 neutral 0.22 0 0.001
EHD1 11 64622239 C T NM_001282444 0.8576 deleterious 0 0 0
ATG2A 11 64667998 G A NM_015104 0.076 neutral 0.02 0.473 0.271
SAC3D1 11 64811900 C T NM_013299 0.1015 neutral 0 0 0
ZFPL1 11 64852255 G A NM_006782 0.3114 neutral 0.1 0 0.002
POLA2 11 65048595 G A NM_002689 0.722 deleterious 0.59 0.77 0.23
DPF2 11 65111483 C T NM_006268 0.6562 deleterious 0 0.999 0.635
SCYL1 11 65306023 C T NM_001048218 0.698 deleterious 0 1 0.99
LTBP3 11 65308636 C T NM_001164266 0.9337 deleterious 0 1 1
PCNXL3 11 65396096 G T NM_032223 0.9804 deleterious 0.07 0.993 0.976
SIPA1 11 65418056 C A NM_006747 0.2863 neutral 0 0.999 0.931
DNHD1 11 6578188 C T NM_144666 0.51 deleterious 0.02 1 0.949
SF3B2 11 65822676 C T NM_006842 0.8841 deleterious 0 0.993 0.968
SF3B2 11 65824803 G C NM_006842 0.9219 deleterious 0.01 0.981 0.549
SF3B2 11 65826778 A G NM_006842 0.5989 deleterious 0.03 0.141 0.075
KLC2 11 66031216 G C NM_001134774 0.0257 neutral 0 1 0.996
RRP8 11 6621480 G A NM_015324 0.4242 neutral 0.63 0.117 0.054
RRP8 11 6622574 C T NM_015324 0.6662 deleterious 0.09 0.999 0.961
RRP8 11 6623212 T G NM_015324 0.196 neutral 0.6 0.455 0.111

Page Counts: 33/181  
33 First  Previous  32  33  34  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