Documentation

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Publication Details

Results for Murdoch2015:

Summary

Title	No Evidence for Association of Autism with Rare Heterozygous Point Mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins
Authors	Murdoch, J.D., Gupta, A.R., Sanders, S.J., Walker, M.F., Keaney, J., Fernandez, T.V., Murtha, M.T., Anyanwu, S., Ober, G.T., Raubeson, M.J., DiLullo, N.M., Villa, N., Waqar, Z., Sullivan, C., Gonzalez, L., Willsey, A.J., Choe, S.-Y., Neale, B.M., Daly, M.
Technology	Targeted next-generation sequencing
Variant source	Table S4. Combined 2008, 2014, Baylor-Broad CNTNAP2 Data
Cohorts	Simons Simplex Collection
Design	Simplex
URL	https://dx.doi.org/10.1371/journal.pgen.1004852
Pubmed	25621974
Subject count	48 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	48
Curation notes	View

Breakdown by exonic function

Function	Variant Count
nonsynonymous SNV	48

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.