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
KAZN 1 15430600 G A NM_201628 0.8794 deleterious 0 1 0.999
ATP8B2 1 154317610 A G NM_020452 0.9271 deleterious 0 1 0.999
ATP8B2 1 154321590 G A NM_020452 0.1251 neutral 0 0.49 0.082
TDRD10 1 154493911 C T NM_001098475 0.1705 neutral 0.14 0.408 0.058
RUSC1 1 155296911 C A NM_001278229 0.0448 neutral 0 0 0
YY1AP1 1 155630566 G C NM_139121 0.0929 neutral 0 0 0
GON4L 1 155735530 A C NM_001282856 0.0171 neutral 0 0 0
ARHGEF2 1 155932442 G A NM_004723 0.3328 neutral 0 0 0
MEF2D 1 156446863 G A NM_001271629 0.9783 deleterious 0 1 0.996
MEF2D 1 156452416 C T NM_001271629 0.9983 deleterious 0 1 0.989
MEF2D 1 156452417 G A NM_001271629 0.9819 deleterious 0 1 0.999
IQGAP3 1 156536205 C T NM_178229 0.7899 deleterious 0.01 1 0.993
PEAR1 1 156883034 C T NM_001080471 0.7847 deleterious 0.43 1 0.997
ETV3 1 157094760 G C NM_001145312 0.9441 deleterious 0 1 0.998
CD1A 1 158226779 G A NM_001763 0.009 neutral 0.08 0.973 0.476
SPTA1 1 158585162 C T NM_003126 0.4875 neutral 0 0.014 0.015
PYHIN1 1 158906752 A G NM_152501 0.026 neutral 0 0.101 0.105
OR10J3 1 159283723 C T NM_001004467 0.0017 neutral 0.06 0.478 0.365
APCS 1 159558174 C G NM_001639 0.9948 deleterious 0 1 0.999
CFAP45 1 159846398 C T NM_012337 0.0134 neutral 0 0.002 0.001

Page Counts: 4/181  
4 First  Previous  3  4  5  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