Publication Details

Results for Uddin2014:

Title Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder
AuthorsUddin, 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.
TechnologyWhole exome sequencing
Variant sourceSupplementary Table 11. Splicing Code Prediction of Significant ∆Ψ or dPSI(< -0.01) for Exons Reported to Have de novo Mutations in Cases and Siblings.
CohortsSimons Simplex Collection
Subject count56
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 count56
Curation notesView
Breakdown by exonic function
FunctionVariant Count
nonsynonymous SNV19
synonymous SNV3

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.