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
TTN 2 179434864 C T NM_003319 0.533 deleterious 0 0 0
TTN 2 179439424 C A NM_003319 0.041 neutral 0 0 0
TTN 2 179447820 G T NM_003319 0.0112 neutral 0 0 0
TTN 2 179486354 C G NM_133378 0.4944 deleterious 0 0 0
TTN 2 179582496 C T NM_133378 0.1735 neutral 0 0 0
TTN 2 179584745 C T NM_133378 0.4944 deleterious 0 0 0
TTN 2 179605302 G T NM_003319 0.0256 neutral 0 0 0
TTN 2 179634424 C G NM_003319 0.9743 deleterious 0 0 0
TTN 2 179641336 C T NM_003319 0.2519 neutral 0 0 0
CCDC141 2 179733939 C T NM_173648 0.1124 neutral 0 0 0
CCDC141 2 179783568 C T NM_001316745 0.0095 neutral 0 0 0
ZNF804A 2 185798420 C T NM_194250 0.9886 deleterious 0 1 0.999
FSIP2 2 186654867 G C NM_173651 0.2309 neutral 0 0 0
ITGAV 2 187505657 G A NM_001144999 0.9849 deleterious 0 1 1
FAM171B 2 187604958 C G NM_177454 0.3793 neutral 0 1 0.972
COL5A2 2 189907974 C T NM_000393 0.9999 deleterious 0 0.999 1
WDR75 2 190313139 G A NM_032168 0.2043 neutral 0.57 0.567 0.148
WDR75 2 190323576 A T NM_001303096 0.0017 neutral 0 0 0
STAT1 2 191850362 C T NM_007315 0.71 deleterious 0.16 0.997 0.954
MYT1L 2 1921023 G C NM_015025 0.6197 deleterious 0 1 0.999

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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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