Publication Details

Results for Chahrour2012:

Title Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism
AuthorsChahrour, M.H., Yu, T.W., Lim, E.T., Ataman, B., Coulter, M.E., Hill, R.S., Stevens, C.R., Schubert, C.R., Greenberg, M.E., Gabriel, S.B., Walsh, C.A.
TechnologyWhole exome sequencing
Variant sourceTable S5. Candidate autism genes that contain compound heterozygous variants; Table S6. Hemizygous variants on the X chromosome
CohortsAutism Genetic Resource Exchange
Subject count12
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 count64
Curation notesView
Breakdown by exonic function
FunctionVariant Count
nonframeshift deletion1
nonsynonymous SNV62

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.