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
ATAD5 17 29167645 C G NM_024857 0.2415 neutral 0.54 0.034 0.053
TEFM 17 29227516 C T NM_024683 0.2384 neutral 0 0.271 0.017
EVI2A 17 29645473 C T NM_014210 0.3215 neutral 0 0.92 0.401
NF1 17 29684327 G A NM_000267 0.9547 deleterious 0.12 0.997 0.964
NF1 17 29684348 C T NM_000267 0.6427 deleterious 0.02 0.996 0.98
OR1A2 17 3101296 C A NM_012352 0.4371 neutral 0.03 0.673 0.467
MYO1D 17 31039179 G T NM_001303279 0.9238 deleterious 0 0 0
OR1A1 17 3119648 C T NM_014565 0.4399 neutral 0 1 1
ZNF830 17 33289423 G A NM_052857 0.5967 deleterious 0.36 0.994 0.946
RAD51D 17 33446571 C G NM_001142571 0.6082 deleterious 0 0.698 0.114
UNC45B 17 33481726 C T NM_001033576 0.6973 deleterious 0 1 0.992
SLFN5 17 33586581 G T NM_144975 0.9115 deleterious 0.01 1 0.999
SLFN13 17 33768288 G A NM_144682 0.2182 neutral 0.11 1 0.996
SLFN13 17 33771996 G A NM_144682 0.0758 neutral 0 0.371 0.383
HEATR9 17 34186056 C G NM_152781 0.2759 neutral 0 0.941 0.616
HEATR9 17 34192351 G A NM_152781 0.038 neutral 0 0.989 0.727
CCL5 17 34205584 G C NM_001278736 0.6192 deleterious 0 0 0
CCL14 17 34313612 G A NM_032962 0.0188 neutral 0 0.98 0.773
AATF 17 35413915 G A NM_012138 0.8094 deleterious 0 0.656 0.116
ACACA 17 35487135 G A NM_198838 0.3605 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


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