C16ORF47

Chr 16

chromosome 16 open reading frame 47

NCBI Gene: 388289UniProt: Q15911

The protein functions as a transcriptional regulator that can activate or repress gene expression by binding to AT-rich sequences, controlling circadian locomotor rhythms in the suprachiasmatic nucleus and regulating myoblast differentiation. Mutations in C16ORF47 have not been definitively associated with human disease based on the available evidence. The gene shows moderate tolerance to loss-of-function variants with a pLI score of 0.45 and LOEUF score of 0.86.

Summary from UniProt

Primary Disease Associations & Inheritance

UniProtAtrial fibrillation, familial, 8
UniProtSpinocerebellar ataxia 4
0
Active trials
0
Pubs (1 yr)
27
P/LP submissions
—
P/LP missense
0.86
LOEUF
LOF
Mechanism· G2P
Clinical Summary— C16ORF47
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.18) despite low pLI — interpret in context.
📋
ClinVar Variants
27 unique Pathogenic / Likely Pathogenic· 8 VUS of 42 total submissions
Some data sources returned errors (1)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/C16ORF47?content-type=application/json&expand=1

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.86LOEUF
pLI 0.448
Z-score 1.78
OE 0.18 (0.06–0.86)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.26Z-score
OE missense 0.91 (0.75–1.12)
65 obs / 71.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.18 (0.06–0.86)
0≤0.351.4
Missense OE0.91 (0.75–1.12)
0≤0.61.4
Synonymous OE1.04
0≤1.21.6
LoF obs/exp: 1 / 5.5Missense obs/exp: 65 / 71.2Syn Z: -0.18

ClinVar Variant Classifications

42 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic25
Likely Pathogenic2
VUS8
Likely Benign2
Benign1
25
Pathogenic
2
Likely Pathogenic
8
VUS
2
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————25
Likely Pathogenic
————2
VUS
————8
Likely Benign
————2
Benign
————1
Total—38

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

C16ORF47 · 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.

Search ClinicalTrials.gov →

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