Documentation

or

Publication Details

Results for Tan2024:

Summary

Title	Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delay
Authors	Tan, S., Zhang, Q., Zhan, R., Luo, S., Han, Y., Yu, B., Muss, C., Pingault, V., Marlin, S., Delahaye, A., Peters, S., Perne, C., Kreiß, M., Spataro, N., Trujillo-Quintero, J.P., Racine, C., Tran-Mau-Them, F., Phornphutkul, C., Besterman, A.D., Martinez, J., Wang, X., Tian, X., Srivastava, S., Urion, D.K., Madden, J.A., Saif, H.A., Morrow, M.M., Begtrup, A., Li, X., Jurgensmeyer, S., Leahy, P., Zhou, S., Li, F., Hu, Z., Tan, J., Xia, K., Guo, H.
Technology	WGS, WES
Variant source	Supplementary Tables 2 and 4
Cohorts	SPARK, SSC, ASC, MSSNG
Design	simplex,multiplex
URL	https://dx.doi.org/10.1038/s41380-024-02806-z
Pubmed	39472663
Subject count	6981 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	8431
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	19
frameshift insertion	13
nonframeshift deletion	1
nonsynonymous SNV	8
other	7687
splicing	669
stopgain	32
synonymous SNV	2

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.