C16ORF46

Chr 16

chromosome 16 open reading frame 46

The protein encoded by this gene localizes to the cytosol and nucleoplasm, though its specific molecular function remains unclear. This gene is highly constrained against loss-of-function variants (pLI ~0), suggesting that complete loss of function is likely incompatible with normal development or survival. However, no definitive disease associations have been established for C16ORF46 mutations in current clinical literature.

ResearchSummary from RefSeq
LOEUF 1.63
Clinical SummaryC16ORF46
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.63LOEUF
pLI 0.000
Z-score 0.00
OE 1.00 (0.631.63)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-1.42Z-score
OE missense 1.28 (1.151.41)
268 obs / 210.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE1.00 (0.631.63)
00.351.4
Missense OE1.28 (1.151.41)
00.61.4
Synonymous OE1.02
01.21.6
LoF obs/exp: 11 / 11.0Missense obs/exp: 268 / 210.2Syn Z: -0.17

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

C16ORF46 · 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

No active trials found for this gene.

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Clinical Literature
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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found