TRIM29

Chr 11

tripartite motif containing 29

Also known as: ATDC

NCBI Gene: 23650 ENSG00000137699 UniProt: Q14134

The protein encoded by this gene belongs to the TRIM protein family. It has multiple zinc finger motifs and a leucine zipper motif. It has been proposed to form homo- or heterodimers which are involved in nucleic acid binding. Thus, it may act as a transcriptional regulatory factor involved in carcinogenesis and/or differentiation. It may also function in the suppression of radiosensitivity since it is associated with ataxia telangiectasia phenotype. [provided by RefSeq, Jul 2008]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.95

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?

0.95LOEUF

pLI 0.000

Z-score 1.75

OE 0.62 (0.41–0.95)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.31Z-score

OE missense 0.96 (0.87–1.04)

350 obs / 366.4 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.62 (0.41–0.95)

0≤0.351.4

Missense OE?0.96 (0.87–1.04)

0≤0.61.4

Synonymous OE?1.05

0≤1.21.6

LoF obs/exp: 15 / 24.3Missense obs/exp: 350 / 366.4Syn Z: -0.46

Background carrier burden — how many people carry a rare variant somewhere in TRIM29?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 46

924 rare PASS variants

Rare truncating (LoF)

1 in 680

144 rare PASS variants

Rare synonymous (reference)

1 in 170

269 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for TRIM29. 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 65	1 in 860
South Asian	~43k	1 in 56	1 in 950
Remaining (unassigned)	~30k	1 in 56	1 in 830
European (Finnish)	~27k	1 in 220	1 in 1,000
Admixed American	~22k	1 in 49	1 in 610
African / African American	~21k	1 in 53	1 in 690
East Asian	~20k	1 in 57	1 in 550
Ashkenazi Jewish	~13k	1 in 230	1 in 1,500
Middle Eastern	~2,884	1 in 53	≈ 1 in 920

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 9 coding exons well covered in gnomAD exomes and genomes.? see exons ↓