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Publication Details

Results for Ji2016:

Summary
Title Increased burden of deleterious variants in essential genes in autism spectrum disorder
AuthorsJi, X., Kember, R.L., Brown, C.D., Bućan, M.
TechnologyWhole exome sequencing
Variant sourceDataset S03
CohortsSimons Simplex Collection
DesignSimplex
URLhttps://dx.doi.org/10.1073/pnas.1613195113
Pubmed27956632
Subject count1373
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 count2056
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion140
frameshift insertion71
nonframeshift deletion8
nonframeshift insertion2
nonframeshift substitution1
nonsynonymous SNV1586
other2
splicing67
stopgain160
stoploss3
unknown18

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.