NUP133
Homo sapiens
Gene Name: nucleoporin 133kDa
Aliases: hNUP133
Chromosome No: 1
Chromosome Band: 1q42.13
Genetic Category: Rare single gene variant-
Aliases: hNUP133
Chromosome No: 1
Chromosome Band: 1q42.13
Genetic Category: Rare single gene variant-
Summary Statistics:
ASD Reports: 5
Recent Reports: 1
Annotated variants: 4
Associated CNVs: 8
Evidence score: 2
ASD Reports: 5
Recent Reports: 1
Annotated variants: 4
Associated CNVs: 8
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Three de novo variants (two missense variants and a synonymous variant predicted in PMID 26938441 to affect splicing regulation by altering an exonic splicing regulator) have been identified in the NUP133 gene in ASD probands from the Simons Simplex Collection (O'Roak et al., 2012; Iossifov et al., 2012; Iossifov et al., 2014). Evaluation of the statistical significance of observing multiple functional de novo variants in this gene, taking into account gene length and local sequence context to determine the expected number of variants, generated a p-value of 3.01E-03 (Takata et al., 2016).
Molecular Function
The protein encoded by this gene is a structural constituent of the nuclear pore and is involved in poly(A)+ RNA transport.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
ASD
Recent Recommendation
De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia.
