Documentation

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Publication Details

Results for DeRubeis2014:

Summary

Title	Synaptic, transcriptional and chromatin genes disrupted in autism
Authors	De Rubeis, S., He, X., Goldberg, A.P., Poultney, C.S., Samocha, K., Ercument Cicek, A., Kou, Y., Liu, L., Fromer, M., Walker, S., Singh, T., Klei, L., Kosmicki, J., Fu, S.-C., Aleksic, B., Biscaldi, M., Bolton, P.F., Brownfeld, J.M., Cai, J., Campbell, N.
Technology	Whole exome sequencing
Variant source	Supplementary Table 3
Cohorts	Simons Simplex Collection, ARRA Autism Sequencing Consortium, Boston Autism Consortium, Icahn School of Medicine at Mount Sinai, Finnish Genome Center, Goethe-Universität, Boston Children’s Hospital, UK 10K
Design	Simplex/Case-control
URL	https://dx.doi.org/10.1038/nature13772
Pubmed	25363760
Subject count	989 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	1694
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	48
frameshift insertion	25
nonframeshift deletion	8
nonsynonymous SNV	1092
other	18
splicing	24
stopgain	90
stoploss	1
synonymous SNV	393

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.