Documentation

or

Publication Details

Results for O’Roak2012b:

Summary

Title	Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
Authors	O’Roak, B.J., Vives, L., Girirajan, S., Karakoc, E., Krumm, N., Coe, B.P., Levy, R., Ko, A., Lee, C., Smith, J.D., Turner, E.H., Stanaway, I.B., Vernot, B., Malig, M., Baker, C., Reilly, B., Akey, J.M., Borenstein, E., Rieder, M.J., Nickerson, D.A., Berni
Technology	Whole exome sequencing
Variant source	Supplementary Table 3: All 242 de novo point mutations found in 189 trios
Cohorts	Simons Simplex Collection
Design	Simplex
URL	https://dx.doi.org/10.1038/nature10989
Pubmed	22495309
Subject count	136 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	243
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	12
frameshift insertion	1
frameshift substitution	2
nonframeshift deletion	2
nonsynonymous SNV	144
other	2
splicing	3
stopgain	14
stoploss	1
synonymous SNV	59
unknown	3

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.