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
RTN4RL1 17 1840824 C T NM_178568 0.6771 deleterious 0.13 0.764 0.659
TBC1D28 17 18541660 T A NM_001039397 0.3298 neutral 0 0.992 0.856
EPN2 17 19213285 C A NM_148921 0.9318 deleterious 0 1 0.999
DPH1 17 1943117 G T NM_001383 0.9801 deleterious 0.02 0.127 0.237
SLC47A2 17 19583282 T A NM_001099646 0.0116 neutral 0 0.418 0.086
SMG6 17 2203809 T C NM_017575 0.1602 neutral 0.35 0.231 0.054
TSR1 17 2227665 G A NM_018128 0.9884 deleterious 0 1 1
METTL16 17 2371131 A G NM_024086 0.9988 deleterious 0 0.989 0.88
CLUH 17 2595709 G A NM_015229 0.9831 deleterious 0 1 0.999
SARM1 17 26722930 G A NM_015077 0.0189 neutral 0 0 0
SARM1 17 26722931 T A NM_015077 0.0075 neutral 0 0 0
SARM1 17 26722933 A T NM_015077 0.0189 neutral 0 0 0
FOXN1 17 26851543 C T NM_003593 0.8526 deleterious 0.03 0.804 0.077
KIAA0100 17 26961787 G A NM_014680 0.9129 deleterious 0 0.926 0.306
SUPT6H 17 27003318 A G NM_003170 0.2066 neutral 0.22 0.417 0.13
NEK8 17 27064851 C T NM_178170 0.0092 neutral 0.9 0 0
SEZ6 17 27308971 G T NM_001098635 0.6365 deleterious 0 1 0.998
GIT1 17 27903116 C G NM_014030 0.0029 neutral 0.8 0.009 0.003
ANKRD13B 17 27938657 A T NM_152345 0.7033 deleterious 0.04 0.535 0.425
SLC6A4 17 28530282 T C NM_001045 0.037 neutral 0.58 0 0.001

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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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