RBMY1F

Chr Y

RNA binding motif protein Y-linked family 1 member F

Also known as: YRRM2

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

ResearchSummary from RefSeq, UniProt
LOEUF 1.88
Clinical SummaryRBMY1F
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.00) despite low pLI — interpret in context.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.88LOEUF
pLI 0.296
Z-score 0.36
OE 0.00 (0.001.88)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.52Z-score
OE missense 0.00 (0.001.27)
0 obs / 2.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.00 (0.001.88)
00.351.4
Missense OE0.00 (0.001.27)
00.61.4
Synonymous OE0.00
01.21.6
LoF obs/exp: 0 / 0.1Missense obs/exp: 0 / 2.2Syn Z: 0.65

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

RBMY1F · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
Open Research Assistant →
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found