C11ORF87

Chr 11

chromosome 11 open reading frame 87

Also known as: LOH11CR1A, NEURIM1

NCBI Gene: 399947 ENSG00000185742 UniProt: Q6NUJ2

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

Research

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.24

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?

1.24LOEUF

pLI 0.278

Z-score 1.31

OE 0.27 (0.09–1.24)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.15Z-score

OE missense 0.96 (0.83–1.12)

118 obs / 122.6 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.27 (0.09–1.24)

0≤0.351.4

Missense OE?0.96 (0.83–1.12)

0≤0.61.4

Synonymous OE?1.03

0≤1.21.6

LoF obs/exp: 1 / 3.7Missense obs/exp: 118 / 122.6Syn Z: -0.20

Background carrier burden — how many people carry a rare variant somewhere in C11ORF87?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 220

279 rare PASS variants

Rare truncating (LoF)

1 in 100,000

7 rare PASS variants

Rare synonymous (reference)

1 in 320

136 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for C11ORF87. 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 280	1 in 110,000
South Asian	~43k	1 in 190	none seen
Remaining (unassigned)	~30k	1 in 130	none seen
European (Finnish)	~27k	1 in 3,000	≈ 1 in 27,000
Admixed American	~22k	1 in 160	none seen
African / African American	~21k	1 in 170	none seen
East Asian	~20k	1 in 140	≈ 1 in 20,000
Ashkenazi Jewish	~13k	1 in 2,600	none seen
Middle Eastern	~2,884	1 in 220	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 1 coding exons well covered in gnomAD exomes and genomes.? see exons ↓