TRIM42

Chr 3

tripartite motif containing 42

Also known as: PPP1R40, T4A1

NCBI Gene: 287015 ENSG00000155890 UniProt: Q8IWZ5 OMIM: 620334

This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, namely a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. [provided by RefSeq, Jul 2008]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.32

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.32LOEUF

pLI 0.000

Z-score 0.16

OE 0.97 (0.72–1.32)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.39Z-score

OE missense 0.95 (0.87–1.03)

399 obs / 421.6 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.97 (0.72–1.32)

0≤0.351.4

Missense OE?0.95 (0.87–1.03)

0≤0.61.4

Synonymous OE?1.07

0≤1.21.6

LoF obs/exp: 29 / 30.0Missense obs/exp: 399 / 421.6Syn Z: -0.68

Background carrier burden — how many people carry a rare variant somewhere in TRIM42?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 58

934 rare PASS variants

Rare truncating (LoF)

1 in 580

129 rare PASS variants

Rare synonymous (reference)

1 in 160

377 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for TRIM42. 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 87	1 in 530
South Asian	~43k	1 in 55	1 in 560
Remaining (unassigned)	~30k	1 in 55	1 in 540
European (Finnish)	~27k	1 in 130	1 in 2,400
Admixed American	~22k	1 in 61	1 in 640
African / African American	~21k	1 in 33	1 in 1,000
East Asian	~20k	1 in 61	1 in 960
Ashkenazi Jewish	~13k	1 in 220	1 in 1,600
Middle Eastern	~2,884	1 in 44	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): All 5 coding exons well covered in gnomAD exomes and genomes.? see exons ↓