Documentation

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Publication Details

Results for Zhao2019:

Summary

Title	Rare inherited missense variants of POGZ associate with autism risk and disrupt neuronal development
Authors	Zhao, 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.
Technology	Targeted sequencing
Variant source	Multimedia Component 1 (ACGC_MIS_ALL) and Multimedia compenent 2
Cohorts	Autism Clinical and Genetic Resources in China
Design	Case-control
URL	https://dx.doi.org/10.1016/j.jgg.2019.04.002
Pubmed	31196716
Subject count	78 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	79
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	1
frameshift insertion	1
nonsynonymous SNV	71
stopgain	6

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.