Documentation

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Publication Details

Results for Uddin2014:

Summary

Title	Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder
Authors	Uddin, M., Tammimies, K., Pellecchia, G., Alipanahi, B., Hu, P., Wang, Z., Pinto, D., Lau, L., Nalpathamkalam, T., Marshall, C.R., Blencowe, B.J., Frey, B.J., Merico, D., Yuen, R.K.C., Scherer, S.W.
Technology	Whole exome sequencing
Variant source	Supplementary Table 11. Splicing Code Prediction of Significant ∆Ψ or dPSI(< -0.01) for Exons Reported to Have de novo Mutations in Cases and Siblings.
Cohorts	Simons Simplex Collection
Design	Simplex
URL	https://dx.doi.org/10.1038/ng.2980
Pubmed	24859339
Subject count	56 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	56
Curation notes	View

Breakdown by exonic function

Function	Variant Count
nonsynonymous SNV	19
splicing	9
stopgain	25
synonymous SNV	3

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.