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
TCERG1L 10 133109867 C T NM_174937 0.0236 neutral 0 0.995 0.141
TUBGCP2 10 135106567 T C NM_001256618 0.3687 neutral 0 0 0
PRPF18 10 13629108 A G NM_003675 0.3089 neutral 0 0.003 0.009
ITGA8 10 15634273 G A NM_001291494 0.065 neutral 0 0 0
RSU1 10 16806500 G A NM_152724 0.6431 deleterious 0 0 0
HACD1 10 17645573 G C NM_014241 0.5093 deleterious 0.23 0.013 0.038
SLC39A12 10 18250538 T C NM_001145195 0.5452 neutral 0.22 0.027 0.056
CACNB2 10 18429670 T A NM_201593 0.641 deleterious 0 0.919 0.226
KIAA1217 10 24802273 T C NM_001282769 0.5963 deleterious 0.29 0 0
GPR158 10 25510055 G T NM_020752 0.995 deleterious 0.01 0.999 0.979
GPR158 10 25887707 A G NM_020752 0.1342 neutral 0.52 0.06 0.006
MYO3A 10 26455055 C T NM_017433 0.4409 neutral 0.55 0.392 0.241
MYO3A 10 26463052 C A NM_017433 0.126 neutral 0.16 0.017 0.004
MKX 10 28030357 G A NM_001242702 0.8964 deleterious 0 1 0.995
ARMC4 10 28149640 C T NM_001290021 0.0126 neutral 0 0 0
ARMC4 10 28149756 T A NM_001290021 0.0053 neutral 0 0 0
ZMYND11 10 298399 C T NM_001202465 0.5138 neutral 0 1 0.998
KIAA1462 10 30317090 C T NM_020848 0.4902 deleterious 0.03 1 0.995
ZNF438 10 31138594 G A NM_001143769 0.0105 neutral 0 0 0
PFKP 10 3124608 G A NM_001242339 0.1146 neutral 0.25 0.849 0.398

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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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