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Relevance to Autism

Rare mutations in the RBMS3 gene have been identified with autism (O'Roak et al., 2011).

Molecular Function

Binds poly-A and poly-U oligoribonucleotides

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.
ASD
Support
Both rare and common genetic variants contribute to autism in the Faroe Islands.
ASD
Highly Cited
RNA-binding protein RBMS3 is expressed in activated hepatic stellate cells and liver fibrosis and increases expression of transcription factor Prx1.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN211R001 
 missense_variant 
 c.1148C>T 
 p.Thr383Met 
 De novo 
 NA 
 Simplex 
 GEN211R002 
 stop_gained 
  
 p.Gln393Ter 
 Familial 
 Maternal 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Deletion-Duplication
 8
 
3
Duplication
 1
 
3
Duplication
 1
 
3
Duplication
 1
 
3
Duplication
 1
 

No Animal Model Data Available

No PIN Data Available
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