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
FAM8A1 6 17605188 C G NM_016255 0.5219 deleterious 0.19 0.587 0.289
KIF13A 6 17809126 C T NM_001105566 0.8487 deleterious 0 1 0.997
TPMT 6 18139228 C T NM_000367 0.1539 neutral 0.02 0.993 0.947
CDKAL1 6 20546697 G A NM_017774 0.8314 deleterious 0.1 0 0
GPLD1 6 24436916 C A NM_001503 0.9122 deleterious 0.54 0.689 0.155
ALDH5A1 6 24505151 G A NM_001080 0.4536 neutral 0 0.998 0.81
ALDH5A1 6 24523086 G A NM_001080 0.4536 neutral 0 0.006 0.003
SLC17A3 6 25862544 A G NM_001098486 0.0475 neutral 0 0.02 0.048
HIST1H3G 6 26271503 T C NM_003534 0.5971 deleterious 0 0 0
HIST1H3G 6 26271590 G A NM_003534 0.7508 deleterious 0 0 0
BTN2A2 6 26384060 C T NM_001197237 0.063 neutral 0 0 0
BTN2A2 6 26385263 C G NM_001197237 0.3602 neutral 0 0 0
BTN2A1 6 26463682 T C NM_001197233 0.0431 neutral 0 0 0
WRNIP1 6 2784633 G A NM_130395 0.9304 deleterious 0 1 0.999
ZKSCAN4 6 28213477 T C NM_001304506 0.0067 neutral 0 0 0
ZSCAN26 6 28240525 C T NM_001287421 0.3422 neutral 0 0 0
ZSCAN31 6 28297279 C T NM_001135216 0.0688 neutral 0 0.05 0.01
ZNF311 6 28963322 C T NM_001010877 0.148 neutral 0 0.988 0.828
MOG 6 29627222 C A NM_001008228 0.1689 neutral 0 1 0.999
HLA-E 6 30457613 A G NM_005516 0.2075 neutral 0 0.177 0.156

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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