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
AAAS 12 53708082 C T NM_001173466 0.5417 deleterious 0 1 0.998
GPR84 12 54757199 A G NM_020370 0.1809 neutral 0.29 0.005 0.02
NCKAP1L 12 54929978 C T NM_005337 0.3345 neutral 0.48 0.873 0.596
PDE1B 12 54966430 G A NM_001315535 0.8932 deleterious 0 0 0
OR6C3 12 55726227 C T NM_054104 0.0301 neutral 0.05 1 0.992
SUOX 12 56398707 G T NM_000456 0.9997 deleterious 0 1 1
ESYT1 12 56522182 C T NM_001184796 0.0806 neutral 0.08 0.005 0.003
SLC39A5 12 56629024 C T NM_001135195 0.4554 neutral 0.05 0 0
ANKRD52 12 56647081 T C NM_173595 0.971 deleterious 0.08 0.991 0.869
PAN2 12 56720411 G A NM_001127460 0.7987 deleterious 0 0.205 0.035
PAN2 12 56721172 G A NM_001127460 0.9735 deleterious 0 1 0.951
STAT2 12 56744934 G A NM_198332 0.1016 neutral 0 0.662 0.222
TIMELESS 12 56817589 G A NM_003920 0.2258 neutral 0 0 0.001
MYO1A 12 57431366 C T NM_001256041 0.5 deleterious 0 1 1
LRP1 12 57594563 A G NM_002332 0.9687 deleterious 0.52 0.997 0.89
LRP1 12 57599250 G A NM_002332 0.2502 neutral 0.29 0.76 0.057
LRP1 12 57605019 G A NM_002332 0.2656 neutral 0.3 0.614 0.038
KIF5A 12 57970127 A G NM_004984 0.4998 deleterious 0 0.001 0.001
AGAP2 12 58125237 C T NM_014770 0.1263 neutral 0.08 1 0.997
AGAP2 12 58131129 G C NM_001122772 0.016 neutral 0.01 0.001 0.002

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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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