C1ORF21

Chr 1

chromosome 1 open reading frame 21

Also known as: PIG13

NCBI Gene: 81563ENSG00000116667UniProt: Q9H246

ResearchGenerating clinical summary…
LOEUF 0.41
Clinical Summary— C1ORF21
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.89) — some intolerance to loss-of-function variants.
📋
ClinVar Variants
2 VUS of 6 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.41LOEUF
pLI 0.892
Z-score 2.49
OE 0.00 (0.00–0.41)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.79Z-score
OE missense 0.72 (0.56–0.92)
45 obs / 62.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.00 (0.00–0.41)
0≤0.351.4
Missense OE?0.72 (0.56–0.92)
0≤0.61.4
Synonymous OE?0.94
0≤1.21.6
LoF obs/exp: 0 / 7.2Missense obs/exp: 45 / 62.6Syn Z: 0.22

ClinVar Variant Classifications

6 submitted variants in ClinVar

ClinVar

Classification Summary

VUS2
2
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
2
0
0
2
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total02002

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

View in ClinVar →

24 pathogenic / likely-pathogenic (of 30) ClinVar copy-number / structural variants overlap C1ORF21 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

C1ORF21 · 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