TRIM23tripartite motif containing 23
Autism Reports / Total Reports4 / 4
Rare Variants / Common Variants3 / 0
AliasesTRIM23, ARD1, ARFD1, RNF46
Genetic CategoryRare Single Gene Mutation
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).
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.1320G>A||p.Val440=||synonymous_variant||De novo||NA||Simplex||25363768||Iossifov I et al. (2014)|
|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)|
No common variants reported.