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
RYR1 19 38956904 G A NM_000540 0.6498 deleterious 0 0.999 0.981
MAP4K1 19 39086584 A G NM_001042600 0.5681 deleterious 0 0.066 0.068
CAPN12 19 39229252 C T NM_144691 0.5439 neutral 0.29 0.974 0.789
EEF2 19 3980675 T C NM_001961 0.7994 deleterious 0.06 0.255 0.035
PIAS4 19 4013122 C A NM_015897 0.4429 neutral 0.64 0.003 0.007
PIAS4 19 4013176 G A NM_015897 0.1171 neutral 1 0.002 0.001
ZNF546 19 40520471 C T NM_001297763 0.007 neutral 0 0 0
MAP3K10 19 40698441 C A NM_002446 0.9962 deleterious 0.03 0.975 0.934
EGLN2 19 41306763 G A NM_053046 0.1523 neutral 0 0 0
EGLN2 19 41306892 C A NM_053046 0.2944 neutral 0 0 0
CYP2A13 19 41594888 G A NM_000766 0.9042 deleterious 0 1 0.994
CD79A 19 42384953 G T NM_021601 0.1988 neutral 0 0.999 0.998
ARHGEF1 19 42410172 G A NM_198977 0.0123 neutral 0 0.005 0.001
ATP1A3 19 42474692 G A NM_152296 1 deleterious 0 1 1
ATP1A3 19 42489176 A G NM_152296 0.9848 deleterious 0 0.767 0.617
GRIK5 19 42507510 T C NM_001301030 0.2698 neutral 0 0 0
CCDC94 19 4251122 G A NM_018074 0.965 deleterious 0.01 0.749 0.431
GRIK5 19 42546852 C T NM_001301030 0.3877 neutral 0 0 0
ZNF526 19 42730427 G A NM_001314033 0.2065 neutral 0.08 0 0
CIC 19 42798982 C T NM_015125 0.2635 neutral 0 0.686 0.299

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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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