DTWD1

Chr 15

DTW motif tRNA-uridine aminocarboxypropyltransferase 1

Also known as: MDS009

NCBI Gene: 56986 ENSG00000104047 UniProt: Q8N5C7

Enables tRNA-uridine aminocarboxypropyltransferase activity. Involved in tRNA modification. Located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

Research

Enables tRNA-uridine aminocarboxypropyltransferase activity. Involved in tRNA modification. Located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.68

LOEUF

—

Mechanism

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?

1.68LOEUF

pLI 0.000

Z-score -0.31

OE 1.09 (0.72–1.68)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.05Z-score

OE missense 1.01 (0.89–1.16)

152 obs / 150.3 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.09 (0.72–1.68)

0≤0.351.4

Missense OE?1.01 (0.89–1.16)

0≤0.61.4

Synonymous OE?1.16

0≤1.21.6

LoF obs/exp: 14 / 12.8Missense obs/exp: 152 / 150.3Syn Z: -0.86

Background carrier burden — how many people carry a rare variant somewhere in DTWD1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 130

384 rare PASS variants

Rare truncating (LoF)

1 in 560

78 rare PASS variants

Rare synonymous (reference)

1 in 520

112 rare PASS variants

Rare missense and truncating variants are carried at similar rates in DTWD1; 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 260	1 in 680
South Asian	~43k	1 in 160	1 in 540
Remaining (unassigned)	~30k	1 in 80	1 in 890
European (Finnish)	~27k	1 in 1,900	1 in 1,200
Admixed American	~22k	1 in 160	1 in 190
African / African American	~21k	1 in 210	1 in 840
East Asian	~20k	1 in 230	1 in 670
Ashkenazi Jewish	~13k	1 in 2,500	1 in 1,500
Middle Eastern	~2,882	1 in 220	1 in 300

Each group is summed over the variants that are rare in that group. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.