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
CHRM3 1 240072255 A G NM_000740 0.2073 neutral 0.02 0.756 0.53
CHML 1 241798420 T A NM_001821 0.8153 deleterious 0.18 0.936 0.787
CNR2 1 24201929 G T NM_001841 0.6666 deleterious 0.04 0.934 0.857
PLD5 1 242383342 T C NM_001195811 0.025 neutral 0.4 0.018 0.011
PLCH2 1 2434058 C T NM_001303012 0.0522 neutral 0 0 0
ADSS 1 244587309 C T NM_001126 0.9973 deleterious 0 1 0.992
HNRNPU 1 245027141 C G NM_004501 0.3637 neutral 0 0.013 0.02
IFNLR1 1 24507257 T C NM_170743 0.165 neutral 1 0.002 0.004
EFCAB2 1 245250572 G T NM_032328 0.1287 neutral 0 0.052 0.072
CNST 1 246810623 C T NM_001139459 0.9785 deleterious 0 0.996 0.883
AHCTF1 1 247014152 T C NM_015446 0.0326 neutral 0.16 0 0
NLRP3 1 247582253 G A NM_001243133 0.0066 neutral 0 0 0
OR2W3 1 248059630 G A NM_001001957 0.452 neutral 0.01 0.995 0.964
OR2M5 1 248309147 G C NM_001004690 0.1768 neutral 0.24 0.971 0.812
OR2M2 1 248343799 C G NM_001004688 0.5104 deleterious 0 0.998 0.981
OR2M4 1 248403015 C A NM_017504 0.2255 neutral 0 0.988 0.965
ZNF692 1 249149951 G A NM_001193328 0.011 neutral 0 0.038 0.005
PGBD2 1 249211378 A T NM_170725 0.7939 deleterious 0.6 0.927 0.945
PDIK1L 1 26449034 A G NM_001243532 0.5355 deleterious 0 0 0
CATSPER4 1 26517811 A G NM_198137 0.6495 deleterious 0 0.278 0.084

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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