AutismKB 2.0

View the Detailed Mosaic Information from PubMed ID: 27632392


Gene ID Gene Symbol Chr Position
27237ARHGEF16 1 3385486
Ref Alt Genotype Validated Method
C T mosaic Sanger Sequencing and Pyrosequencing
iFish Probablity iFish Prediction SIFT Phylop
0.9962 deleterious 0.01 4.07
Polyphen2_HDIV Polyphen2_HVAR MutationAssessor GERP_RS
1 0.998 2.645 2.39
dScore CpG Hydropathicity Polarity
4.102 3.6 -5.1

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