Publication Details

Results for DeRubeis2014:

Title Synaptic, transcriptional and chromatin genes disrupted in autism
AuthorsDe 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.
TechnologyWhole exome sequencing
Variant sourceSupplementary Table 3
CohortsSimons 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
Subject count989
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 count1694
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion48
frameshift insertion25
nonframeshift deletion8
nonsynonymous SNV1092
synonymous SNV393

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.