Documentation

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Publication Details

Results for Gupta2023:

Summary

Title	Identification of two novel autism genes, TRPC4 and SCFD2, in Qatar simplex families through exome sequencing
Authors	Gupta, V., Ben-Mahmoud, A., Ku, B., Velayutham, D., Jan, Z., Yousef Aden, A., Kubbar, A., Alshaban, F., Stanton, L.W., Jithesh, P.V., Layman, L.C., Kim, H.-G.
Technology	whole exome sequencing
Variant source	Tables 1 and 2
Cohorts	Qatar
Design	simplex
URL	https://dx.doi.org/https://doi.org/10.3389/fpsyt.2023.1251884
Pubmed
Subject count	6 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	13
Curation notes	View

Breakdown by exonic function

Function	Variant Count
nonframeshift substitution	1
nonsynonymous SNV	10
splicing	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.