C11ORF71

Chr 11

chromosome 11 open reading frame 71

Also known as: URLC7

NCBI Gene: 54494ENSG00000180425UniProt: Q6IPW1

ResearchGenerating clinical summary…
LOEUF 1.50
Clinical Summary— C11ORF71
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Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.35) despite low pLI — interpret in context.
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ClinVar Variants
1 VUS of 2 total submissions
Explore recent and relevant literature in Research Assistant →

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

ClinVar Variant Classifications

2 submitted variants in ClinVar

ClinVar

Classification Summary

VUS1
1
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
0
0
0
Likely Pathogenic
0
0
0
0
0
VUS
0
1
0
0
1
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total01001

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

15 pathogenic / likely-pathogenic (of 17) ClinVar copy-number / structural variants overlap C11ORF71 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

C11ORF71 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients