Documentation

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Publication Details

Results for vanBon2015:

Summary

Title	Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID
Authors	van Bon, B.W.M., Coe, B.P., Bernier, R., Green, C., Gerdts, J., Witherspoon, K., Kleefstra, T., Willemsen, M.H., Kumar, R., Bosco, P., Fichera, M., Li, D., Amaral, D., Cristofoli, F., Peeters, H., Haan, E., Romano, C., Mefford, H.C., Scheffer, I., Gecz, J
Technology	Targeted resequencing (1 gene)
Variant source	Supplementary Table 1 - Predicted effect of splice-site variation
Cohorts	Simons Simplex Collection, Radboud University Medical Center, Troina, Leuven, Murdoch CRI, PMID:23099646, PMID:25167861
Design	Simplex
URL	https://dx.doi.org/10.1038/mp.2015.5
Pubmed	25707398
Subject count	6 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	6
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	2
splicing	3
stopgain	1

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.