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GPR75-ASB3

Chr 2

GPR75-ASB3 readthrough

NCBI Gene: 100302652

This locus encodes a read-through transcript that produces a protein with a novel N-terminus but otherwise identical to ASB3, which functions in protein ubiquitination and degradation pathways. The gene shows very low constraint against loss-of-function variants (pLI near zero), and no definitive disease associations have been established for pathogenic variants in this read-through transcript. Further research is needed to determine if mutations in GPR75-ASB3 cause distinct clinical phenotypes compared to isolated ASB3 variants.

ResearchSummary from RefSeq

This locus represents naturally occurring read-through transcription between the neighboring GPR75 (G protein-coupled receptor 75) and ASB3 (ankyrin repeat and SOCS box containing 3) on chromosome 2. The transcript includes exons from both GPR75 and ASB3 and translation initiates in the 5' non-coding exon of GPR75. The resulting protein has a novel N-terminus but is otherwise identical to that encoded by ASB3.[provided by RefSeq, Feb 2011]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.90

LOEUF

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Mechanism

Some data sources returned errors (2)