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
C12orf65 12 123738265 G A NM_001143905 0.1586 neutral 0 0 0
SBNO1 12 123798209 T C NM_018183 0.092 neutral 0 0.001 0.001
RILPL2 12 123920711 A G NM_145058 0.6553 deleterious 0.14 0.412 0.062
TCTN2 12 124191337 C T NM_001143850 0.1115 neutral 0 1 0.959
ATP6V0A2 12 124241506 C T NM_012463 0.4821 neutral 0.01 1 0.996
DNAH10 12 124303750 G A NM_207437 0.0825 neutral 0 0.989 0.836
DNAH10 12 124356105 G T NM_207437 0.0425 neutral 0 0.998 0.968
DNAH10 12 124383277 C A NM_207437 0.1652 neutral 0 1 0.999
DNAH10 12 124401027 C A NM_207437 0.0347 neutral 0 0.998 0.951
DNAH10 12 124413069 C T NM_207437 0.7949 deleterious 0 1 1
MANSC1 12 12483250 T C NM_018050 0.05 neutral 0 0.657 0.258
MANSC1 12 12483385 G A NM_018050 0.0247 neutral 0 0 0
NCOR2 12 124887010 T C NM_001077261 0.869 deleterious 0 0.993 0.956
DHX37 12 125465134 T C NM_032656 0.1732 neutral 0.29 0 0.001
DDX47 12 12976177 A T NM_016355 0.061 neutral 0 0.018 0.038
RAN 12 131359121 C T NM_001300796 0.6098 deleterious 0 0 0
ULK1 12 132400965 C T NM_003565 0.2474 neutral 0.01 0.629 0.089
EP400 12 132516561 C T NM_015409 0.421 neutral 0 0.247 0.021
POLE 12 133240613 C T NM_006231 0.9721 deleterious 0.14 0.978 0.832
POLE 12 133252760 A C NM_006231 0.9559 deleterious 0.12 0.012 0.074

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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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