FREY1
protein-codingFrey regulator of sperm-oocyte fusion 1
Gene summary
Predicted to enable protein-macromolecule adaptor activity. Predicted to be involved in fusion of sperm to egg plasma membrane involved in single fertilization; maintenance of protein localization in endoplasmic reticulum; and sperm-egg recognition. Predicted to act upstream of or within several processes, including protein N-linked glycosylation; protein stabilization; and spermatid development. Predicted to be active in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Jun 2026]
- C11orf94
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~0.8 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to FREY1 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001080446.3. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 2 | 1 | 3 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 2 | 1 | 0 | 3 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001073915.2 | 3 | MANE Select | |
| Ensembl | ENSP00000401498.1 | 3 | MANE Select | |
| Ensembl | ENSP00000772572.1 | 2 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Cellular Component
- extracellular region
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000449465
- Coding exons
- 3
- Length
- 749
- Individuals with no LoFs
- 124004
- Homozygous LoFs
- 1
- Heterozygous LoFs
- 603
- Defined
- 124608
- p
- 0.00243
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.542 | 74 | 62.0 | 1.19 | 0.00000415 | 593 |
| Missense (PolyPhen) | 29 | 24.904 | 1.1645 | 225 | ||
| Synonymous | -0.482 | 32 | 28.7 | 1.11 | 0.00000190 | 229 |
| Loss of Function | 0.530 | 2 | 2.99 | 0.669 | 1.27e-7 | 33 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00071 | 0.00071 | rare |
| Latino/Admixed American | 0.0031 | 0.0031 | notable |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00023 | 0.00022 | rare |
| Finnish | 0.0056 | 0.0055 | notable |
| European (Non-Finnish) | 0.0030 | 0.0030 | notable |
| South Asian | 0.00026 | 0.00026 | rare |
| Other | 0.0030 | 0.0030 | notable |
dbNSFP Gene Annotations
Source:
Intolerance Scores
- LoFtool
- 0.750
- RVIS EVS
- 0.06
- RVIS percentile EVS
- 58.26
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- S
- Essential (gene trap)
- N
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |