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
ZZEF1 17 3978572 C T NM_015113 0.9968 deleterious 0 0.999 0.979
ACLY 17 40025344 A G NM_198830 0.9647 deleterious 0 0.999 1
CNP 17 40123912 G A NM_033133 0.0865 neutral 0 0 0
NKIRAS2 17 40175841 C G NM_001144928 0.9995 deleterious 0 1 0.998
KAT2A 17 40269445 C T NM_021078 0.981 deleterious 0.01 1 0.904
STAT5A 17 40441466 G T NM_001288718 0.9908 deleterious 0 0 0
ATP6V0A1 17 40666450 G A NM_005177 0.9242 deleterious 0 1 1
TUBG1 17 40765890 C G NM_001070 0.969 deleterious 0 0.999 0.904
VPS25 17 40925870 C A NM_032353 0.8818 deleterious 0.03 0.999 0.87
RUNDC1 17 41141433 C T NM_173079 0.7575 deleterious 0 0.999 0.997
ETV4 17 41610239 A G NM_001261437 0.1069 neutral 0 0 0
DUSP3 17 41847180 G A NM_004090 0.8976 deleterious 0 0.999 0.756
ASB16 17 42255667 G A NM_080863 0.2825 neutral 0.45 0.997 0.927
SLC4A1 17 42335477 G A NM_000342 0.9884 deleterious 0 0.302 0.16
GRN 17 42428483 A G NM_002087 0.0852 neutral 0.46 0.757 0.293
GRN 17 42429110 G A NM_002087 0.0061 neutral 0.79 0 0
ITGA2B 17 42451729 A G NM_000419 0.9989 deleterious 0 0.932 0.559
EFTUD2 17 42931953 T G NM_001142605 0.8816 deleterious 0 0 0
SPATA32 17 43333388 A G NM_152343 0.0091 neutral 0.29 0.012 0.016
SPNS3 17 4349389 C T NM_182538 0.1329 neutral 0 0.462 0.166

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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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