RNPS1RNA binding protein with serine rich domain 1
Relevance to Autism
Duplications involving RNPS1 were statistically enriched (P=0.003671) in a cohort of 57,356 patients with neurodevelopmental disorders compared to a cohort of 20,474 controls. A de novo 6.03 kb duplication encompassing the RNPS1 gene was identified in a female patient from the Signature Genomic Laboratories database (GC62115) with autistic disorder, developmental delay, dysmorphic features, seizure disorder, and multiple congenital anomalies (Nguyen et al., 2013).
This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein.
Reports related to RNPS1 (1 Reports)
|#||Type||Title||Author, Year||Autism Report||Associated Disorders|
|1||Primary||Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.||Nguyen LS , et al. (2013)||No||ASD|
Rare Variants (1)
|Status||Allele Change||Residue Change||Variant Type||Inheritance Pattern||Parental Transmission||Family Type||PubMed ID||Author, Year|
|-||-||copy_number_gain||De novo||-||Unknown||23376982||Nguyen LS , et al. (2013)|
No common variants reported.
CNVs associated with RNPS1(1 CNVs)
|16p13.3||46||Deletion-Duplication||72 / 474|