PRR20E

Chr 13

proline rich 20E

NCBI Gene: 729250 ENSG00000234278 UniProt: P86478

The PRR20E protein is proline-rich and contains dopamine D4 receptor signature domains, though its specific cellular function remains unclear. Currently, no established human diseases have been definitively linked to mutations in this gene. This gene is part of a cluster of five identical loci on chromosome 13q21.1, which may complicate genetic analysis and variant interpretation.

ResearchSummary from RefSeq

This gene is one of five identical loci in a cluster on chromosome 13q21.1. The predicted protein is proline-rich and contains several dopamine D4 receptor signatures and PRINTS domains. [provided by RefSeq, Oct 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

—

Mechanism

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in PRR20E?

gnomAD v4 · ~0k individuals · PASS only

Rare means allele frequency under

Rare missense

none observed

0 rare PASS variants

Rare truncating (LoF)

none observed

0 rare PASS variants

Rare synonymous (reference)

none observed

0 rare PASS variants

Rare missense and truncating variants are carried at similar rates in PRR20E; this gene does not show strong loss-of-function constraint by this measure. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

Exome coverage (gnomAD): 0 of 2 coding exons well covered in gnomAD exomes; exons 2, 3 poorly covered. Genomes: 0 of 2 (exons 2, 3 below).? see exons ↓