RBMY1F

Chr Y

RNA binding motif protein Y-linked family 1 member F

Also known as: YRRM2

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…
LOEUF 1.88
Clinical SummaryRBMY1F
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.00) despite low pLI — interpret in context.
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

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 OE?0.00 (0.001.88)
00.351.4
Missense OE?0.00 (0.001.27)
00.61.4
Synonymous OE?0.00
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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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