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
BRD1 22 50167925 G A NM_001304809 0.6018 deleterious 0 0 0
TRABD 22 50633461 G A NM_025204 0.4721 deleterious 0.02 0 0
PLXNB2 22 50727283 A C NM_012401 0.0067 neutral 0.42 0.026 0.036
PPP6R2 22 50857408 C T NM_001242899 0.5368 deleterious 0 0.998 0.933
SBF1 22 50898487 C T NM_002972 0.9831 deleterious 0 0.999 0.887
SBF1 22 50899099 C T NM_002972 0.0578 neutral 0 0.818 0.217
CPT1B 22 51015426 G A NM_001145134 0.2495 neutral 0 0.003 0.013
SHANK3 22 51159850 A G NM_033517 0.0189 neutral 0 0 0
LNP1 3 100170600 A T NM_001085451 0.041 neutral 0.01 0.001 0.003
EMC3 3 10028342 C T NM_018447 0.243 neutral 0.48 0.137 0.114
ABI3BP 3 100471643 C T NM_015429 0.9208 deleterious 0 0.998 0.849
ABI3BP 3 100585792 C T NM_015429 0.5243 deleterious 0.18 0.998 0.991
SENP7 3 101066863 T C NM_001282803 0.0463 neutral 0 0 0
NFKBIZ 3 101574022 T G NM_001005474 0.0032 neutral 0 0 0
IRAK2 3 10219567 C A NM_001570 0.1902 neutral 0.02 0.998 0.948
TATDN2 3 10301993 G A NM_014760 0.7643 deleterious 0.11 0.8 0.352
SLC6A1 3 11067472 C T NM_003042 0.998 deleterious 0 1 1
SLC6A1 3 11067982 T C NM_003042 0.9973 deleterious 0 0.27 0.198
SLC6A1 3 11068045 G A NM_003042 0.9997 deleterious 0 0.999 0.964
SLC6A1 3 11076337 G A NM_003042 0.9875 deleterious 0.08 0.917 0.391

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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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