C11ORF71

Chr 11

chromosome 11 open reading frame 71

Also known as: URLC7

NCBI Gene: 54494 ENSG00000180425 UniProt: Q6IPW1

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

1.50

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?

1.50LOEUF

pLI 0.208

Z-score 1.03

OE 0.35 (0.12–1.50)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.29Z-score

OE missense 1.09 (0.92–1.30)

89 obs / 81.5 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.35 (0.12–1.50)

0≤0.351.4

Missense OE?1.09 (0.92–1.30)

0≤0.61.4

Synonymous OE?0.94

0≤1.21.6

LoF obs/exp: 1 / 2.9Missense obs/exp: 89 / 81.5Syn Z: 0.30

Background carrier burden — how many people carry a rare variant somewhere in C11ORF71?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 300

231 rare PASS variants

Rare truncating (LoF)

1 in 350

42 rare PASS variants

Rare synonymous (reference)

1 in 630

89 rare PASS variants

Rare missense and truncating variants are carried at similar rates in C11ORF71; 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 490	1 in 1,100
South Asian	~43k	1 in 210	1 in 3,000
Remaining (unassigned)	~30k	1 in 270	1 in 1,300
European (Finnish)	~27k	1 in 540	none seen
Admixed American	~22k	1 in 290	≈ 1 in 7,400
African / African American	~21k	1 in 220	≈ 1 in 10,000
East Asian	~20k	1 in 380	1 in 770
Ashkenazi Jewish	~13k	≈ 1 in 3,200	≈ 1 in 12,000
Middle Eastern	~2,884	1 in 160	≈ 1 in 960

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.