Human Gene Module / Chromosome 5 / NUP155

NUP155nucleoporin 155

Score
1
High Confidence Criteria 1.1
Autism Reports / Total Reports
1 / 1
Rare Variants / Common Variants
-
Aliases
NUP155, ATFB15,  N155
Associated Syndromes
-
Genetic Category
Rare Single Gene Mutation
Chromosome Band
5p13.2
Associated Disorders
-
Relevance to Autism

Five protein-truncating variants in the NUP155 gene were identified in case samples from the Danish iPSYCH study (Satterstrom et al., 2020). TADA analysis of de novo variants from the Simons Simplex Collection and the Autism Sequencing Consortium and protein-truncating variants from iPSYCH in Satterstrom et al., 2020 identified LRRC4C as a candidate gene with a false discovery rate (FDR) between 0.05 and 0.1 (0.05 < FDR 0.1).

Molecular Function

Nucleoporins are proteins that play an important role in the assembly and functioning of the nuclear pore complex (NPC) which regulates the movement of macromolecules across the nuclear envelope (NE). The protein encoded by this gene plays a role in the fusion of NE vesicles and formation of the double membrane NE. The protein may also be involved in cardiac physiology and may be associated with the pathogenesis of atrial fibrillation.

Reports related to NUP155 (1 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. Satterstrom FK , et al. (2020) Yes -
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