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
TMC4 19 54666461 G T NM_144686 0.1176 neutral 0 0.001 0.005
TMC4 19 54672377 A G NM_144686 0.5352 deleterious 0 0.999 0.976
LILRA3 19 54803750 G T NM_001172654 0.0391 neutral 0 0.002 0.006
GZMM 19 548659 C G NM_005317 0.8659 deleterious 0.08 1 1
LENG9 19 54973833 G A NM_001301782 0.0179 neutral 0 0 0
LILRA2 19 55098764 T C NM_001290270 0.0079 neutral 0 0 0
LILRA1 19 55107343 T C NM_001278319 0.0027 neutral 0 0 0
NLRP7 19 55439074 C G NM_139176 0.5906 deleterious 0 0.021 0.007
NLRP7 19 55450865 T C NM_001127255 0.3543 neutral 0 0 0
NLRP7 19 55452898 G T NM_001127255 0.5906 deleterious 0 0 0
TMEM86B 19 55739655 A G NM_173804 0.0217 neutral 0.3 0.001 0.002
BRSK1 19 55820037 A G NM_032430 0.8665 deleterious 0 0.734 0.305
SSC5D 19 56029616 C A NM_001144950 0.1658 neutral 0.01 0.092 0.01
NLRP4 19 56370219 A C NM_134444 0.2426 neutral 0.54 0.005 0.018
NLRP5 19 56515319 A C NM_153447 0.0264 neutral 0.12 0.998 0.953
NLRP5 19 56539717 C G NM_153447 0.0249 neutral 0.37 0 0.002
ZSCAN5B 19 56701754 C G NM_001080456 0.0104 neutral 0.62 0.002 0.003
ZNF471 19 57035824 C A NM_020813 0.0381 neutral 0.27 0.003 0.003
LONP1 19 5707116 C A NM_001276480 0.0266 neutral 0 0 0
LONP1 19 5713148 C G NM_001276479 0.1468 neutral 0 1 0.999

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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


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