Documentation

or

Publication Details

Results for Marques2022:

Summary

Title	Gene Variants Involved in Nonsense-Mediated mRNA Decay Suggest a Role in Autism Spectrum Disorder
Authors	Marques, A.R., Santos, J.X., Martiniano, H., Vilela, J., Rasga, C., Romão, L., Vicente, A.M.
Technology	Whole exome sequencing, targeted sequencing
Variant source	Table S3. Rare Variants identified in NMD genes in a cohort of 1828 ASD patients.
Cohorts	Autism Sequencing Consortium (490 ASD cases sequenced at Baylor College of Medicine, 1338 at Broad Institute)
Design	simplex
URL	https://dx.doi.org/10.3390/biomedicines10030665
Pubmed	35327467
Subject count	297 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	297
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	5
frameshift insertion	1
nonsynonymous SNV	266
splicing	15
stopgain	10

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.