Publication Details

Results for Marques2022:

Title Gene Variants Involved in Nonsense-Mediated mRNA Decay Suggest a Role in Autism Spectrum Disorder
AuthorsMarques, A.R., Santos, J.X., Martiniano, H., Vilela, J., Rasga, C., Romão, L., Vicente, A.M.
TechnologyWhole exome sequencing, targeted sequencing
Variant sourceTable S3. Rare Variants identified in NMD genes in a cohort of 1828 ASD patients.
CohortsAutism Sequencing Consortium (490 ASD cases sequenced at Baylor College of Medicine, 1338 at Broad Institute)
Subject count297
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 count297
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion5
frameshift insertion1
nonsynonymous SNV266

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.