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
IKZF2 2 213886838 C G NM_001079526 0.5393 deleterious 0 0.999 0.994
ABCA12 2 215846997 C G NM_015657 0.3258 neutral 0 0.38 0.376
ABCA12 2 215852457 C T NM_173076 0.3767 neutral 0.29 0.929 0.272
ATIC 2 216211489 G A NM_004044 0.9995 deleterious 0 1 1
FN1 2 216235029 C G NM_212474 0.4875 neutral 0 0.977 0.714
FN1 2 216239958 C T NM_001306131 0.4875 neutral 0 0 0
FN1 2 216251636 T G NM_001306131 0.4875 neutral 0 0 0
FN1 2 216259404 C T NM_001306129 0.4875 neutral 0 0 0
SMARCAL1 2 217300128 G A NM_001127207 0.2645 neutral 0 0 0
SLC11A1 2 219249897 G A NM_000578 0.1724 neutral 0.02 0.508 0.15
VIL1 2 219294054 G A NM_007127 0.9967 deleterious 0 1 0.998
VIL1 2 219297564 G A NM_007127 0.5582 deleterious 0.19 0.987 0.721
VIL1 2 219299328 A C NM_007127 0.516 deleterious 0.18 0.828 0.654
PLCD4 2 219483415 C T NM_032726 0.6729 deleterious 0 0 0
ZNF142 2 219521110 C T NM_001105537 0.1845 neutral 0 0.995 0.588
RNF25 2 219529550 C T NM_022453 0.2001 neutral 0.11 0.876 0.118
CRYBA2 2 219855593 G A NM_057093 0.3005 neutral 0.46 0 0
FAM134A 2 220045455 A T NM_024293 0.9173 deleterious 0.05 0.942 0.743
ABCB6 2 220080755 G A NM_005689 0.4453 neutral 0.21 0 0.001
ATG9A 2 220085973 G A NM_001077198 0.8274 deleterious 0.02 0.99 0.353

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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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