Human Gene Module / Chromosome 5 / TRIM23

TRIM23tripartite motif containing 23

Score
1
High Confidence Criteria 1.1
Autism Reports / Total Reports
4 / 4
Rare Variants / Common Variants
3 / 0
Aliases
TRIM23, ARD1,  ARFD1,  RNF46
Associated Syndromes
-
Genetic Category
Rare Single Gene Mutation
Chromosome Band
5q12.3
Associated Disorders
-
Relevance to Autism

Two de novo missense variants, including one that was predicted to be damaging (defined as MPC 2), were identified in the TRIM23 gene in ASD probands from the Autism Sequencing Consortium and AGRE (De Rubeis et al., 2014; Yuen et al., 2017), while three protein-truncating variants in this gene were observed 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 TRIM23 as a candidate gene with a false discovery rate (FDR) between 0.05 and 0.1 (0.05 < FDR 0.1).

Molecular Function

The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein is also a member of the ADP ribosylation factor family of guanine nucleotide-binding family of proteins. Its carboxy terminus contains an ADP-ribosylation factor domain and a guanine nucleotide binding site, while the amino terminus contains a GTPase activating protein domain which acts on the guanine nucleotide binding site. The protein localizes to lysosomes and the Golgi apparatus. It plays a role in the formation of intracellular transport vesicles, their movement from one compartment to another, and phopholipase D activation. It also acts as an E3 ubiquitin-protein ligase.

Reports related to TRIM23 (4 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary Synaptic, transcriptional and chromatin genes disrupted in autism. De Rubeis S , et al. (2014) Yes -
2 Support The contribution of de novo coding mutations to autism spectrum disorder. Iossifov I , et al. (2014) Yes -
3 Support Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. C Yuen RK , et al. (2017) Yes -
4 Recent recommendation Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. Satterstrom FK , et al. (2020) Yes -
Rare Variants   (3)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.1172T>C p.Phe391Ser missense_variant De novo NA Multiplex 28263302 C Yuen RK , et al. (2017)
c.1700C>T p.Ala567Val missense_variant De novo NA Simplex 25363760 De Rubeis S , et al. (2014)
c.1320G>A p.Val440%3D synonymous_variant De novo NA Simplex 25363768 Iossifov I , et al. (2014)
Common Variants  

No common variants reported.

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