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
MAP4K5 14 50912820 T C NM_006575 0.0128 neutral 0.48 0 0
PYGL 14 51410920 A C NM_001163940 0.5125 deleterious 0 1 1
NID2 14 52477726 C T NM_007361 0.0251 neutral 0.47 0.036 0.011
TXNDC16 14 52955112 A C NM_001160047 0.013 neutral 0 0.013 0.006
CNIH1 14 54897061 C T NM_005776 0.8409 deleterious 0.77 0.974 0.936
CGRRF1 14 54997751 C T NM_006568 0.018 neutral 0.15 0.994 0.556
WDHD1 14 55467613 C T NM_001008396 0.0031 neutral 0 0 0
WDHD1 14 55477154 A G NM_007086 0.9898 deleterious 0.14 0.997 0.925
EXOC5 14 57676376 T C NM_006544 0.9059 deleterious 0 0.77 0.5
AP5M1 14 57741429 T C NM_018229 0.4782 deleterious 0.35 0.039 0.015
NAA30 14 57857680 C T NM_001011713 0.8505 deleterious 0 0.997 0.746
TOMM20L 14 58869468 G T NM_207377 0.4849 deleterious 1 0.002 0.002
KIAA0586 14 58895068 A G NM_001244190 0.0148 neutral 0 0 0.001
KIAA0586 14 58965637 G A NM_001244193 0.0196 neutral 0 0.001 0.001
DACT1 14 59113803 A T NM_001079520 0.9054 deleterious 0 1 0.999
DAAM1 14 59782064 G A NM_001270520 0.9937 deleterious 0 0.996 0.993
HIF1A 14 62204808 C T NM_001530 0.142 neutral 0 0 0
SYNE2 14 64676751 C T NM_015180 0.163 neutral 0 0.867 0.735
SPTB 14 65220412 T C NM_001024858 0.4051 neutral 0 0 0
SPTB 14 65253441 T C NM_000347 0.6028 deleterious 0 1 0.997

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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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