C1ORF216

Chr 1

chromosome 1 open reading frame 216

NCBI Gene: 127703ENSG00000142686UniProt: Q8TAB5

The protein function of C1ORF216 is not well-characterized. Mutations cause autosomal recessive developmental delay with variable intellectual disability and behavioral abnormalities. This gene shows low constraint against loss-of-function variants (pLI 0.001, LOEUF 1.48), suggesting tolerance to protein truncation.

Research
LOEUF 1.48
Clinical Summary— C1ORF216
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.48LOEUF
pLI 0.001
Z-score 0.69
OE 0.72 (0.37–1.48)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.11Z-score
OE missense 0.97 (0.84–1.13)
129 obs / 132.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.72 (0.37–1.48)
0≤0.351.4
Missense OE0.97 (0.84–1.13)
0≤0.61.4
Synonymous OE1.01
0≤1.21.6
LoF obs/exp: 5 / 7.0Missense obs/exp: 129 / 132.7Syn Z: -0.08

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

C1ORF216 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

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