Documentation

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Publication Details

Results for Gupta2014:

Summary

Title	Rare deleterious mutations of the gene EFR3A in autism spectrum disorders
Authors	Gupta, A.R., Pirruccello, M., Cheng, F., Kang, H.J., Fernandez, T.V., Baskin, J.M., Choi, M., Liu, L., Ercan-Sencicek, A.G., Murdoch, J.D., Klei, L., Neale, B.M., Franjic, D., Daly, M.J., Lifton, R.P., De Camilli, P., Zhao, H., estan, N., State, M.W.
Technology	Sanger sequencing, whole exome sequencing
Variant source	Table S5:All rare nonsynonymous CASK variants in SSC cases; Table S6:All rare nonsynonymous EFR3A variants.
Cohorts	Simons Simplex Collection, ARRA Autism Sequencing Collaboration
Design	Simplex
URL	https://dx.doi.org/10.1186/2040-2392-5-31
Pubmed	24860643
Subject count	63 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	64
Curation notes	View

Breakdown by exonic function

Function	Variant Count
nonsynonymous SNV	62
other	2

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.