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
WDR76 15 44128398 C A NM_001167941 0.0026 neutral 0 0 0
CASC4 15 44581428 T G NM_138423 0.7914 deleterious 1 0.999 0.957
SPG11 15 44865888 C T NM_025137 0.5083 deleterious 0.2 0.214 0.029
DUOX1 15 45448101 C G NM_017434 0.8749 deleterious 0.03 0.958 0.875
FBN1 15 48704816 G A NM_000138 0.1987 neutral 0 0.006 0.001
FBN1 15 48720623 C T NM_000138 0.978 deleterious 0.53 0.995 0.703
CEP152 15 49048380 T C NM_001194998 0.6365 deleterious 0 1 0.998
EID1 15 49170680 G T NM_014335 0.5776 deleterious 0.06 1 0.982
COPS2 15 49426143 G A NM_004236 0.998 deleterious 0 1 0.978
USP8 15 50786392 A G NM_001283049 0.9116 deleterious 0 0 0
TRPM7 15 50923683 T C NM_001301212 0.297 neutral 0 0 0
AP4E1 15 51291288 G T NM_001252127 0.0517 neutral 0 0 0
DMXL2 15 51763583 G C NM_001174117 0.0631 neutral 0 0.996 0.846
DMXL2 15 51766611 C T NM_001174117 0.1997 neutral 0 0.74 0.577
DMXL2 15 51791966 T C NM_001174116 0.1888 neutral 0 0.554 0.279
GNB5 15 52427874 T C NM_006578 0.0038 neutral 0 0 0
MYO5A 15 52718114 A C NM_000259 0.4875 neutral 0 0.42 0.326
FAM214A 15 52900800 A G NM_019600 0.5083 deleterious 0.12 0.083 0.02
ONECUT1 15 53081003 T C NM_004498 0.9957 deleterious 0.01 0.795 0.973
RFX7 15 56387330 G A NM_022841 0.148 neutral 0 0 0

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  (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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