AutismKB 2.0

View the Detailed Mosaic Information from PubMed ID: 26542245


Gene ID Gene Symbol Chr Position
2475MTOR 1 11190804
Ref Alt Genotype Validated Method
C T gonadal mosaic
iFish Probablity iFish Prediction SIFT Phylop
0.9631 deleterious 0.15 7.447
Polyphen2_HDIV Polyphen2_HVAR MutationAssessor GERP_RS
0.878 0.463 1.995 5.54
dScore CpG Hydropathicity Polarity
0.644 -0.4 -1

Notes:
*iFish(Wang M, Wei L, PIMD: 27527004) is a supporting vector machine (SVM) based classifier which uses gene and gene family specific attributes. At the same time, iFish alsoprovides functional annotations from other classifiers such as: SIFT, Polyphen2, and MutationTaster2.
iFish utilized customized prediction cutoff for each classifier that maximizes the sum of sensitivity andspecificity.

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