Human Gene Module / Chromosome 16 / RNPS1

RNPS1RNA binding protein with serine rich domain 1

Score
-
No Rating
Autism Reports / Total Reports
0 / 1
Rare Variants / Common Variants
1 / 0
Aliases
RNPS1, E5.1
Associated Syndromes
-
Genetic Category
-
Chromosome Band
16p13.3
Associated Disorders
ASD
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).

Molecular Function

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)
Common Variants  

No common variants reported.

CNVs associated with RNPS1(1 CNVs)
16p13.3 46 Deletion-Duplication 72  /  474
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