AutismKB 2.0

View the Detailed Mosaic Information from PubMed ID: 28867142


Gene ID Gene Symbol Chr Position
3071NCKAP1L 12 54929978
Ref Alt Genotype Validated Method
C T Mosaic
SSC ID WES Depth WES Alt Count PASM Depth
13741.p1 162
PASM Maf PASM MAF 95%CI lowerbound PASM MAF 95%CI upperbound Location
exonic
iFish Probablity iFish Prediction SIFT Phylop
0.3345 neutral 0.48 1.729
Polyphen2_HDIV Polyphen2_HVAR MutationAssessor GERP_RS
0.873 0.596 2.195 3.19
dScore CpG Hydropathicity Polarity
2.225 -1 0.3

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