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
L3MBTL1 20 42169759 T G NM_015478 0.3042 deleterious 0.03 0.078 0.04
PABPC1L 20 43545506 G A NM_001124756 0.7515 deleterious 0 0.807 0.092
KCNS1 20 43723695 C T NM_002251 0.7426 deleterious 0.03 0.998 0.742
SEMG1 20 43837010 C T NM_003007 0.1097 neutral 0 0.986 0.757
SEMG2 20 43851703 G A NM_003008 0.0287 neutral 0.35 0.035 0.009
ZSWIM1 20 44511799 G A NM_080603 0.1524 neutral 0 0.184 0.023
SPATA25 20 44515322 C T NM_080608 0.1363 neutral 0 0.265 0.049
ZNF335 20 44582508 G A NM_022095 0.0777 neutral 0 0.09 0.024
SLC12A5 20 44681697 G A NM_020708 0.9941 deleterious 0 1 1
SLC35C2 20 44983771 G A NM_173073 0.9369 deleterious 0 1 0.97
SULF2 20 46292275 T C NM_001161841 0.5254 deleterious 0 0 0
PRNP 20 4680118 T C NM_001271561 0.0093 neutral 0 0 0
DDX27 20 47850144 C T NM_017895 0.5012 neutral 0 1 0.982
KCNB1 20 47989527 C T NM_004975 0.282 neutral 0 0.985 0.711
ZBP1 20 56188179 C A NM_001160419 0.0127 neutral 0.05 0.964 0.681
CTSZ 20 57572709 A G NM_001336 0.978 deleterious 0 0.963 0.897
ZNF831 20 57766673 C T NM_178457 0.7861 deleterious 0 0.999 0.956
CDH26 20 58559852 G T NM_177980 0.7245 deleterious 0 1 0.99
CHGB 20 5903482 G A NM_001819 0.5125 deleterious 0.16 1 0.99
MCM8 20 5933079 C T NM_001281520 0.1678 neutral 0 0 0

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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