Publication Details

Results for Zhao2019:

Title Rare inherited missense variants of POGZ associate with autism risk and disrupt neuronal development
AuthorsZhao, W., Tan, J., Zhu, T., Ou, J., Li, Y., Shen, L., Wu, H., Han, L., Liu, Y., Jia, X., Bai, T., Li, H., Ke, X., Zhao, J., Zou, X., Hu, Z., Guo, H., Xia, K.
TechnologyTargeted sequencing
Variant sourceMultimedia Component 1 (ACGC_MIS_ALL) and Multimedia compenent 2
CohortsAutism Clinical and Genetic Resources in China
Subject count78
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 count79
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion1
frameshift insertion1
nonsynonymous SNV71

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.