C16ORF92

Chr 16

fertilization-influencing membrane protein 1

Also known as: C16orf92, FIMP

The protein is predicted to be involved in sperm-oocyte fusion during fertilization and localizes to the plasma membrane. Currently, no well-established human diseases have been definitively linked to mutations in this gene. The gene shows low constraint against loss-of-function variants (pLI = 0.03, LOEUF = 1.26), suggesting tolerance to functional disruption.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 1.26
Clinical SummaryC16ORF92
Population Constraint (gnomAD)
Low constraint (pLI 0.03) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
163 unique Pathogenic / Likely Pathogenic· 4 VUS of 167 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.26LOEUF
pLI 0.032
Z-score 1.16
OE 0.49 (0.221.26)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.16Z-score
OE missense 0.95 (0.791.15)
76 obs / 80.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.49 (0.221.26)
00.351.4
Missense OE0.95 (0.791.15)
00.61.4
Synonymous OE0.88
01.21.6
LoF obs/exp: 3 / 6.1Missense obs/exp: 76 / 80.0Syn Z: 0.55

ClinVar Variant Classifications

167 submitted variants in ClinVar

Classification Summary

Pathogenic123
Likely Pathogenic40
VUS4
123
Pathogenic
40
Likely Pathogenic
4
VUS

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
123
Likely Pathogenic
40
VUS
4
Likely Benign
0
Benign
0
Total167

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

C16ORF92 · 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
Open Research Assistant →
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found