OVCH1
protein-codingovochymase 1
Gene summary
Predicted to enable metal ion binding activity and serine-type endopeptidase activity. Predicted to be involved in fertilization and proteolysis. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Jun 2026]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~85.2 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 OVCH1 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001353179.2. 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 | 112 | 7 | 119 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 112 | 7 | 0 | 119 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001340108.1 | 26 | MANE Select | |
| Ensembl | ENSP00000445480.2 | 26 | MANE Select | |
| Ensembl | ENSP00000326708.5 | 28 | Standard | |
| Ensembl | ENSP00000445260.1 | 3 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- proteolysis
Molecular Function
- serine-type endopeptidase activity
- metal ion binding
Cellular Component
- extracellular region
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000318184
- Coding exons
- 28
- Length
- 85213
- Individuals with no LoFs
- 124308
- Homozygous LoFs
- 2
- Heterozygous LoFs
- 484
- Defined
- 124794
- p
- 0.00195
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.383 | 543 | 569 | 0.955 | 0.0000275 | 7342 |
| Missense (PolyPhen) | 107 | 122.45 | 0.87382 | 1680 | ||
| Synonymous | 0.185 | 202 | 205 | 0.984 | 0.0000108 | 2140 |
| Loss of Function | 0.160 | 55 | 56.3 | 0.977 | 0.00000256 | 769 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0029 | 0.0028 | notable |
| Latino/Admixed American | 0.0013 | 0.0012 | notable |
| Ashkenazi Jewish | 0.00030 | 0.00030 | rare |
| East Asian | 0.0056 | 0.0053 | notable |
| Finnish | 0.0039 | 0.0037 | notable |
| European (Non-Finnish) | 0.0018 | 0.0018 | notable |
| South Asian | 0.00042 | 0.00039 | rare |
| Other | 0.0012 | 0.0012 | notable |
dbNSFP Gene Annotations
Source:
Essentials
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.0521
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | High | Medium | Medium |
| Primary Immunodeficiency | High | High | High |
| Cancer | High | High | High |