RBMY1E

Chr Y

RNA binding motif protein Y-linked family 1 member E

NCBI Gene: 378950 ENSG00000242389 UniProt: A6NEQ0

The protein is an RNA-binding protein that participates in pre-mRNA splicing during spermatogenesis and is required for normal sperm development. Mutations cause male infertility due to azoospermia or severe oligospermia, inherited in a Y-linked pattern since the gene is located on chromosome Y. The gene has multiple functional copies in the AZFb region and shows relatively low constraint to loss-of-function variation.

ResearchSummary from RefSeq, UniProt

This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. Multiple copies of this gene are found in the AZFb azoospermia factor region of chromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome P3, along with two copies of PTPN13-like, Y-linked. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

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LOEUF

Mechanism· predicted

Some data sources returned errors (1)

gnomad: TimeoutError: The operation was aborted due to timeout

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in RBMY1E?

gnomAD v4 · ~296k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 300,000

1 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 RBMY1E; 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.

By genetic ancestry · 1 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~218k	≈ 1 in 220,000	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 0 of 11 coding exons well covered in gnomAD exomes; exons 2, 3, 4, 5, 6 and 6 more poorly covered. Genomes: 0 of 11 (exons 2, 3, 4, 5, 6 and 6 more below).? see exons ↓