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
SCN2A 2 166237202 G C NM_001040142 0.9771 deleterious 0 0.639 0.734
SCN2A 2 166245217 G A NM_001040142 0.9996 deleterious 0 1 1
GALNT3 2 166613697 G A NM_004482 0.8997 deleterious 0 1 1
SCN1A 2 166848859 C G NM_001165964 0.2117 neutral 0 0 0
SCN7A 2 167284437 G T NM_002976 0.3571 neutral 0 0.934 0.444
XIRP2 2 168100145 C T NM_001199144 0.0084 neutral 0 0 0
XIRP2 2 168103957 C T NM_001199144 0.0293 neutral 0 0 0
CERS6 2 169417831 A G NM_001256126 0.978 deleterious 0 0.416 0.403
ABCB11 2 169853212 T G NM_003742 0.9947 deleterious 0.02 0.986 0.814
LRP2 2 170030556 G C NM_004525 0.8903 deleterious 0.29 0.988 0.902
LRP2 2 170062840 C T NM_004525 0.4138 neutral 0 0.209 0.079
KLHL41 2 170377387 G A NM_006063 0.9882 deleterious 0.18 0.963 0.618
TLK1 2 171863055 A G NM_001136555 0.6724 deleterious 0 0.218 0.196
ZAK 2 174081896 G C NM_016653 0.5548 deleterious 0 0.997 0.901
SP3 2 174820528 C T NM_001017371 0.4244 neutral 0 0 0
ATF2 2 175976331 A G NM_001256092 0.0006 neutral 0 0 0
SMC6 2 17877683 T G NM_001142286 0.2349 deleterious 0 0 0
PLEKHA3 2 179358628 G A NM_019091 0.9107 deleterious 0.02 0.881 0.324
TTN 2 179396737 C T NM_003319 0.1914 neutral 0 0 0
TTN 2 179425280 C T NM_003319 0.6359 deleterious 0 0 0

Page Counts: 96/181  
96 First  Previous  95  96  97  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