AutismKB 2.0

View the Detailed Mosaic Information from PubMed ID: 28503910


Gene ID Gene Symbol Chr Position
5096PCCB 3 136016845
Ref Alt Genotype Validated Method
G A mosaic PASM
SSC ID WES Depth WES Alt Count PASM Depth
11502.s1 323 22 14084
PASM Maf PASM MAF 95%CI lowerbound PASM MAF 95%CI upperbound Location
0.027 0.024 0.03 exonic
iFish Probablity iFish Prediction SIFT Phylop
0.9793 deleterious 0 8.943
Polyphen2_HDIV Polyphen2_HVAR MutationAssessor GERP_RS
1 1 3.205 5.24
dScore CpG Hydropathicity Polarity
2.26 1 0

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