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Relevance to Autism

A noncoding RNA that is 94% identical and antisense to the MSN transcript is transcribed from a region of chromosome 5p14.1 that contains a genome-wide significant association with ASD with the SNP rs4307059. Individuals who carry the ASD-associated rs4307059 T allele showed increased expression of MSNP1AS. The noncoding RNA bound to MSN, was highly overexpressed (12.7-fold) in postmortem cerebral cortex of ASD cases, and could regulate levels of moesin protein in human cell lines (Kerin et al., 2012).

Molecular Function

A noncoding RNA encoded by the opposite (antisense) strand ofmoesinpseudogene 1 (MSNP1). Chromosome 5p14.1 MSNP1AS is 94% identical and antisense to the X chromosome transcript of MSN, which encodes a protein (moesin) that regulates neuronal architecture.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A noncoding RNA antisense to moesin at 5p14.1 in autism.
ASD
Positive Association
Replication of previous GWAS hits suggests the association between rs4307059 near MSNP1AS and autism in a Chinese Han population.
ASD
Positive Association
Variants in TTC25 affect autistic trait in patients with autism spectrum disorder and general population.
ASD
Positive Association
The association of rs4307059 and rs35678 markers with autism spectrum disorders is replicated in Italian families.
ASD
Positive Association
Association between a high-risk autism locus on 5p14 and social communication spectrum phenotypes in the general population.
ALTs
Negative Association
A genome-wide linkage and association scan reveals novel loci for autism.
ASD
Negative Association
Lack of replication of previous autism spectrum disorder GWAS hits in European populations.
ASD
Negative Association
Individual common variants exert weak effects on the risk for autism spectrum disorderspi.
ASD
Negative Association
A genome-wide scan for common alleles affecting risk for autism.
ASD
Support
The Autism-Related lncRNA MSNP1AS Regulates Moesin Protein to Influence the RhoA, Rac1, and PI3K/Akt Pathways and Regulate the Structure and Survival of Neurons
ASD
Highly Cited
Common genetic variants on 5p14.1 associate with autism spectrum disorders.
ASD
Recent Recommendation
Transcriptional Gene Silencing of the Autism-Associated Long Noncoding RNA MSNP1AS in Human Neural Progenitor Cells.
Recent Recommendation
Impact of the Autism-Associated Long Noncoding RNA MSNP1AS on Neuronal Architecture and Gene Expression in Human Neural Progenitor Cells.

Rare

No Rare Variants Available

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN582C001 
 intergenic_variant 
 rs4307059 
  
 C to T 
 US and European 
 Discovery 
 GEN582C002 
 intergenic_variant 
 rs4307059 
  
 C/T 
 Italian Autism Network (ITAN) 
 Replication 
 GEN582C003 
 intergenic_variant 
 rs4307059 
  
 C/T 
 Discovery cohort: 2165 participants from AGRE 
 Replication 
 GEN582C004 
 intergenic_variant 
 rs6452310 
  
 G/A 
 160 nuclear Belgian Flemish families (657 individuals) recruited to participate through the Expert Center for Autism (ECA) Leuven 
 Discovery 
 GEN582C005 
 intergenic_variant 
 rs7700465 
  
 G/A 
 160 nuclear Belgian Flemish families (657 individuals) recruited to participate through the Expert Center for Autism (ECA) Leuven 
 Discovery 
 GEN582C006 
 intergenic_variant 
 rs4307059 
  
 C/T 
 640 Han Chinese ASD trios 
 Replication 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model

No Animal Model Data Available

No PIN Data Available
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