CNV gains and losses data for <i>YBX3</i> in DECIPHER [94].

CNV gains and losses data for <i>YBX3</i> in DECIPHER [94].

<p>(A) Percentages of individuals reported with gain or loss CNVs that include <i>YBX3</i>. (B) Percentages of mechanisms of inheritance of gain and loss CNVs that include <i>YBX3</i>. (C) Size of CNV gain and losses that include <i>YBX3</i>. (D) Predictive...

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Bibliographic Details
Main Author:	Ashley N. Hayden (19871128) (author)
Other Authors:	Katie L. Brandel (19871131) (author), Edward W. Pietryk (5777888) (author), Paul R. Merlau (19871134) (author), Priyadharshini Vijayakumar (19871137) (author), Emily J. Leptich (19871140) (author), Elizabeth S. Gaytan (19871143) (author), Meredith I. Williams (19871146) (author), Connie W. Ni (19871149) (author), Hsiao-Tuan Chao (4454008) (author), Jill A. Rosenfeld (9606199) (author), Rachel N. Arey (19871152) (author)
Published:	2024
Subjects:	Biochemistry Neuroscience Pharmacology Evolutionary Biology Immunology Cancer Mental Health Infectious Diseases Biological Sciences not elsewhere classified test evolutionary conservation single nucleotide variants potential new source behavioral screening reveals potential functional significance leveraging human datasets ></ u >< reveal memory regulators div >< p x </ u b </ u identifies ybx dysfunction binding protein required 20 conserved rbps u >< unknown significance rbp dysfunction human genome conserved residue binding proteins ybxs </ ybx3 </ legans </ elegans </ e </ c </ 3 </ study highlights regulate translation rbp family promote memory neurological symptoms neurological phenotypes neurological disorders nervous system memory ability key symptom functionally replace cognitive impairments closest ortholog associative learning 000 rbps
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Summary:	<p>(A) Percentages of individuals reported with gain or loss CNVs that include <i>YBX3</i>. (B) Percentages of mechanisms of inheritance of gain and loss CNVs that include <i>YBX3</i>. (C) Size of CNV gain and losses that include <i>YBX3</i>. (D) Predictive scores for <i>YBX3</i> from gnomAD v.2.11 [<a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1011443#pgen.1011443.ref132" target="_blank">132</a>] suggest that <i>YBX3</i> is tolerant to loss of function variants and is haplosufficient, suggesting variants may instead be deleterious by being dominant negative or gain-of-function. (E) Phenotypes of patients specifically with deletion/loss CNVs including <i>YBX3</i>, primarily intellectual disability, low-set ears, micrognathia, and other neurological features.</p> <p>(TIF)</p>

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