NLRX1

Chr 11

NLR family member X1

Also known as: CLR11.3, DLNB26, NOD26, NOD5, NOD9

NCBI Gene: 79671 ENSG00000160703 UniProt: Q86UT6

The protein encoded by this gene is a member of the NLR family and localizes to the outer mitochondrial membrane. The encoded protein is a regulator of mitochondrial antivirus responses. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2013]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.54

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?

1.54LOEUF

pLI 0.000

Z-score -1.07

OE 1.19 (0.93–1.54)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.13Z-score

OE missense 0.98 (0.92–1.05)

604 obs / 613.4 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?1.19 (0.93–1.54)

0≤0.351.4

Missense OE?0.98 (0.92–1.05)

0≤0.61.4

Synonymous OE?0.97

0≤1.21.6

LoF obs/exp: 42 / 35.2Missense obs/exp: 604 / 613.4Syn Z: 0.43

Background carrier burden — how many people carry a rare variant somewhere in NLRX1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 30

1,296 rare PASS variants

Rare truncating (LoF)

1 in 310

191 rare PASS variants

Rare synonymous (reference)

1 in 90

565 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for NLRX1. 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 48	1 in 380
South Asian	~43k	1 in 29	1 in 420
Remaining (unassigned)	~30k	1 in 25	1 in 310
European (Finnish)	~27k	1 in 110	1 in 400
Admixed American	~22k	1 in 26	1 in 230
African / African American	~21k	1 in 24	1 in 570
East Asian	~20k	1 in 51	1 in 470
Ashkenazi Jewish	~13k	1 in 170	≈ 1 in 6,500
Middle Eastern	~2,884	1 in 23	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 9 coding exons well covered in gnomAD exomes and genomes.? see exons ↓