TRIM51

Chr 11

tripartite motif-containing 51

Also known as: SPRYD5, TRIM51A

NCBI Gene: 84767 ENSG00000124900 UniProt: Q9BSJ1

Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in innate immune response and regulation of gene expression. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.41

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.41LOEUF

pLI 0.000

Z-score 0.40

OE 0.89 (0.58–1.41)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-1.14Z-score

OE missense 1.21 (1.10–1.33)

287 obs / 237.6 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.89 (0.58–1.41)

0≤0.351.4

Missense OE?1.21 (1.10–1.33)

0≤0.61.4

Synonymous OE?1.28

0≤1.21.6

LoF obs/exp: 13 / 14.6Missense obs/exp: 287 / 237.6Syn Z: -2.04

Background carrier burden — how many people carry a rare variant somewhere in TRIM51?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 59

632 rare PASS variants

Rare truncating (LoF)

1 in 290

65 rare PASS variants

Rare synonymous (reference)

1 in 250

201 rare PASS variants

Rare missense and truncating variants are carried at similar rates in TRIM51; 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 · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 84	1 in 1,100
South Asian	~43k	1 in 62	1 in 570
Remaining (unassigned)	~30k	1 in 50	1 in 500
European (Finnish)	~27k	1 in 130	1 in 2,200
Admixed American	~22k	1 in 80	1 in 590
African / African American	~21k	1 in 56	1 in 580
East Asian	~20k	1 in 120	1 in 1,200
Ashkenazi Jewish	~13k	1 in 240	≈ 1 in 6,500
Middle Eastern	~2,881	1 in 130	1 in 470

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): All 6 coding exons well covered in gnomAD exomes and genomes.? see exons ↓