Documentation

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Publication Details

Results for Ji2016:

Summary

Title	Increased burden of deleterious variants in essential genes in autism spectrum disorder
Authors	Ji, X., Kember, R.L., Brown, C.D., Bućan, M.
Technology	Whole exome sequencing
Variant source	Dataset S03
Cohorts	Simons Simplex Collection
Design	Simplex
URL	https://dx.doi.org/10.1073/pnas.1613195113
Pubmed	27956632
Subject count	1373 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	2056
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	140
frameshift insertion	71
nonframeshift deletion	8
nonframeshift insertion	2
nonframeshift substitution	1
nonsynonymous SNV	1586
other	2
splicing	67
stopgain	160
stoploss	3
unknown	18

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.