AutismKB 2.0

View the Detailed Mosaic Information from PubMed ID: 28503910


Gene ID Gene Symbol Chr Position
64816CYP3A43 7 99457566
Ref Alt Genotype Validated Method
G A mosaic PASM
SSC ID WES Depth WES Alt Count PASM Depth
13236.p1 130 47 3254
PASM Maf PASM MAF 95%CI lowerbound PASM MAF 95%CI upperbound Location
0.377 0.36 0.394 exonic
iFish Probablity iFish Prediction SIFT Phylop
0.0087 neutral 2.338
Polyphen2_HDIV Polyphen2_HVAR MutationAssessor GERP_RS
0.604
dScore CpG Hydropathicity Polarity
0.3 -0.7

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