Documentation

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Publication Details

Results for Jiao2019:

Summary

Title	dentification of De Novo JAK2 and MAPK7 Mutations Related to Autism Spectrum Disorder Using Whole-Exome Sequencing in a Chinese Child and Adolescent Trio-Based Sample
Authors	Jiao, J., Zhang, M., Yang, P., Huang, Yan, Hu, X., Cai, J., Yang, C., Situ, M., Zhang, H., Fu, L., Guo, K., Huang, Yi
Technology	Whole Exome Sequencing
Variant source	Table S3
Cohorts	Chengdu city
Design	Simplex
URL	https://dx.doi.org/10.1007/s12031-019-01456-z
Pubmed	31838722
Subject count	19 The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count	26
Curation notes	View

Breakdown by exonic function

Function	Variant Count
nonsynonymous SNV	26

What am I looking at?

Summary: Information from the literature piece (e.g. Author, Publisher, DOI) and the study experimental design (e.g. sample size, source of probands, sequencing technology.) For a full list of sources of variants, be sure to check out the publications page. Documentation and description of our work can be found on the help page.

Breakdown by exonic function: We annotated the variants with an effect prediction using ANNOVAR. The functions are categories of variants, such as frameshift variants (i.e. frameshift_elongation (SO:0001909)), loss/gain of stop codon, SNVs and non-frameshift variants. See the full list of possible annotations for exonic variants in the documentation.