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
PDXDC1 16 15112743 G A NM_001285448 0.604 deleterious 0 0 0
KIAA0430 16 15719503 C A NM_001184999 0.2252 neutral 0 0.776 0.434
MYH11 16 15844149 G A NM_002474 0.6527 deleterious 0.05 0.619 0.5
ABCC1 16 16142079 G T NM_004996 0.9893 deleterious 0 1 0.999
XYLT1 16 17228330 C T NM_022166 0.9279 deleterious 0 0.935 0.555
MAPK8IP3 16 1756621 A G NM_001040439 0.9993 deleterious 0 1 0.999
MAPK8IP3 16 1810500 A T NM_001040439 0.1005 neutral 0 0 0
EME2 16 1825806 G A NM_001257370 0.0294 neutral 0 0 0
HAGH 16 1866933 G A NM_001286249 0.0124 neutral 0.89 0 0
TMC7 16 19020725 A C NM_001300732 0.1176 neutral 0 0 0
TMC7 16 19033065 C T NM_001300732 0.3192 neutral 0 0 0
TMC5 16 19475099 C A NM_024780 0.1176 neutral 0.19 0.004 0.01
GDE1 16 19522205 G C NM_016641 0.3857 neutral 0.61 0.008 0.012
GPR139 16 20043668 T C NM_001002911 0.0827 neutral 0 0.002 0.004
RNF151 16 2018652 G A NM_174903 0.0476 neutral 0 0.031 0.012
ACSM5 16 20442594 C T NM_017888 0.3252 neutral 0.13 0.879 0.673
ACSM3 16 20796338 G A NM_005622 0.9164 deleterious 0.02 0.958 0.67
SLC9A3R2 16 2086460 C T NM_001130012 0.6155 deleterious 0.01 0.978 0.91
DCUN1D3 16 20873859 A G NM_173475 0.9717 deleterious 0 0.995 0.95
TSC2 16 2105504 A G NM_000548 0.9802 deleterious 0.59 0.001 0.003

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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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