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
SLAMF9 1 159922117 C T NM_033438 0.9552 deleterious 0 1 1
ATP1A4 1 160125943 C T NM_144699 0.8545 deleterious 0 0.991 0.986
COPA 1 160281685 T C NM_001098398 0.318 neutral 0.47 0.041 0.081
FBLIM1 1 16096936 C T NM_001024215 0.3235 neutral 0 0.896 0.699
FBLIM1 1 16101147 T G NM_001024216 0.0885 neutral 0.51 0.008 0.002
USP21 1 161130734 C T NM_001014443 0.1753 neutral 0 0 0
B4GALT3 1 161141673 C T NM_001199873 0.3312 neutral 0 0 0
OLFML2B 1 161989809 G A NM_001297713 0.0776 neutral 0 0 0
SPEN 1 16235920 A C NM_015001 0.9211 deleterious 0 0.986 0.759
SPEN 1 16261227 G C NM_015001 0.1728 neutral 0.3 0.783 0.636
ZBTB17 1 16269685 C T NM_001242884 0.0318 neutral 0 0.999 0.9
DDR2 1 162740230 C T NM_001014796 0.2952 neutral 0 0 0
CLCNKA 1 16352629 A G NM_001042704 0.2619 neutral 0 0.002 0.008
CLCNKB 1 16375706 G A NM_000085 0.4111 neutral 0 0 0
CLCNKB 1 16376358 C G NM_001165945 0.2456 neutral 0.21 0.002 0.012
PBX1 1 164769051 G C NM_001204961 0.9404 deleterious 0.04 0.755 0.593
PBX1 1 164790805 C T NM_001204963 0.7503 deleterious 0.13 0.812 0.419
ARHGEF19 1 16525147 G C NM_153213 0.9777 deleterious 0.17 0.999 0.974
POU2F1 1 167384806 C T NM_001198786 0.287 neutral 0 0.997 0.709
MPZL1 1 167745396 C T NM_003953 0.1398 neutral 0.04 0.594 0.184

Page Counts: 5/181  
5 First  Previous  4  5  6  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