Documentation

or

Publication Details

Results for Lennox2020:

Summary

Title	Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development
Authors	Lennox, A.L., Hoye, M.L., Jiang, R., Johnson-Kerner, B.L., Suit, L.A., Venkataramanan, S., Sheehan, C.J., Alsina, F.C., Fregeau, B., Aldinger, K.A., Moey, C., Lobach, I., Afenjar, A., Babovic-Vuksanovic, D., Bézieau, S., Blackburn, P.R., Bunt, J., Burglen, L., Campeau, P.M., Charles, P., Chung, B.H.Y., Cogné, B., Curry, C., D’Agostino, M.D., Di Donato, N., Faivre, L., Héron, D., Innes, A.M., Isidor, B., Keren, B., Kimball, A., Klee, E.W., Kuentz, P., Küry, S., Martin-Coignard, D., Mirzaa, G., Mignot, C., Miyake, N., Matsumoto, N., Fujita, A., Nava, C., Nizon, M., Rodriguez, D., Blok, L.S., Thauvin-Robinet, C., Thevenon, J., Vincent, M., Ziegler, A., Dobyns, W., Richards, L.J., Barkovich, A.J., Floor, S.N., Silver, D.L., Sherr, E.H.
Technology	targeted sequencing
Variant source	Table S1: Comprehensive Phenotypes for DDX3X Patients
Cohorts	network of 7 clinical sites
Design	Trios, Simplex
URL	https://dx.doi.org/10.1016/j.neuron.2020.01.042
Pubmed	32135084
Subject count	22 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	22
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	2
frameshift insertion	3
frameshift substitution	1
nonframeshift deletion	1
nonsynonymous SNV	9
stopgain	6

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.