AutismKB 2.0

View the Detailed Mosaic Information from PubMed ID: 28503910


Gene ID Gene Symbol Chr Position
1826DSCAM 21 41684236
Ref Alt Genotype Validated Method
G A mosaic PASM
SSC ID WES Depth WES Alt Count PASM Depth
12163.p1 42 5 3506
PASM Maf PASM MAF 95%CI lowerbound PASM MAF 95%CI upperbound Location
0.011 0.008 0.016 exonic
iFish Probablity iFish Prediction SIFT Phylop
0.9051 deleterious 0.04 2.522
Polyphen2_HDIV Polyphen2_HVAR MutationAssessor GERP_RS
3.49 4.57
dScore CpG Hydropathicity Polarity
3.6 -5.1
1826DSCAM 21 41550838
Ref Alt Genotype Validated Method
G A mosaic PASM
SSC ID WES Depth WES Alt Count PASM Depth
12492.s1 78 7 3697
PASM Maf PASM MAF 95%CI lowerbound PASM MAF 95%CI upperbound Location
0.06110858 0.05151988 0.07173417 intronic

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