AutismKB 2.0

View the Detailed Mosaic Information from PubMed ID: 28867142


Gene ID Gene Symbol Chr Position
57634EP400 12 132516561
Ref Alt Genotype Validated Method
C T Mosaic
SSC ID WES Depth WES Alt Count PASM Depth
11226.p1 101
PASM Maf PASM MAF 95%CI lowerbound PASM MAF 95%CI upperbound Location
exonic
iFish Probablity iFish Prediction SIFT Phylop
0.421 neutral 2.95
Polyphen2_HDIV Polyphen2_HVAR MutationAssessor GERP_RS
0.247 0.021 5.9
dScore CpG Hydropathicity Polarity
0.534 7 -5

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