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
EML5 14 89154652 T C NM_183387 0.7621 deleterious 0 0 0
NRDE2 14 90756862 C G NM_017970 0.5541 deleterious 0.11 1 0.997
CCDC88C 14 91744403 G C NM_001080414 0.0868 neutral 0 0 0.001
CCDC88C 14 91766302 C T NM_001080414 0.7641 deleterious 0 0.995 0.825
FBLN5 14 92403413 G C NM_006329 0.3069 neutral 0 0.001 0.001
TRIP11 14 92465749 C T NM_004239 0.5288 deleterious 0.08 0.916 0.299
CPSF2 14 92600459 A G NM_017437 0.9987 deleterious 0 1 1
RIN3 14 93081784 G A NM_024832 0.8916 deleterious 0.08 0.993 0.978
RIN3 14 93118106 A G NM_024832 0.2398 neutral 0.11 0 0.001
CHGA 14 93401174 T C NM_001301690 0.5125 deleterious 0 0 0
TMEM251 14 93653012 C T NM_015676 0.0802 neutral 0 0 0
PPP4R4 14 94732223 A G NM_058237 0.0185 neutral 0.14 0 0
DICER1 14 95571439 C T NM_001195573 0.8921 deleterious 0 0 0
DICER1 14 95574729 G A NM_001195573 0.8581 deleterious 0 0 0
ATG2B 14 96756895 T C NM_018036 0.194 neutral 0 0.988 0.965
LYSMD4 15 100272044 T C NM_001284417 0.4239 neutral 0 0 0
ALDH1A3 15 101454953 T C NM_001293815 0.7137 deleterious 0 0 0
LRRK1 15 101567898 G A NM_024652 0.9294 deleterious 0 0.999 0.95
TARSL2 15 102242560 G A NM_152334 0.7918 deleterious 0 0.769 0.322
OR4M2 15 22368588 A G NM_001004719 0.5165 deleterious 0 0.98 0.915

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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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