MSS51
protein-codingMSS51 mitochondrial translational activator, the group of Zinc fingers MYND-type
Gene summary
Predicted to enable zinc ion binding activity. [provided by Alliance of Genome Resources, Jul 2025]
- ZMYND17
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~10.0 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 MSS51 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001024593.2. 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 | 83 | 6 | 89 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 84 | 6 | 0 | 90 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001019764.1 | 6 | MANE Select | |
| Ensembl | ENSP00000299432.2 | 6 | MANE Select | |
| Ensembl | ENSP00000362003.1 | 6 | Standard | |
| Ensembl | ENSP00000362003.1 | 6 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- social behavior
Molecular Function
- metal ion binding
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000299432
- Coding exons
- 6
- Length
- 9981
- Individuals with no LoFs
- 124630
- Homozygous LoFs
- 11
- Heterozygous LoFs
- 1107
- Defined
- 125748
- p
- 0.00446
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.551 | 236 | 261 | 0.904 | 0.0000137 | 2955 |
| Missense (PolyPhen) | 41 | 56.149 | 0.7302 | 717 | ||
| Synonymous | 1.11 | 84 | 98.0 | 0.857 | 0.00000475 | 971 |
| Loss of Function | 0.318 | 17 | 18.5 | 0.920 | 0.00000103 | 199 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0019 | 0.0019 | notable |
| Latino/Admixed American | 0.0025 | 0.0024 | notable |
| Ashkenazi Jewish | 0.0020 | 0.0020 | notable |
| East Asian | 0.00044 | 0.00044 | rare |
| Finnish | 0.013 | 0.013 | notable |
| European (Non-Finnish) | 0.0044 | 0.0044 | notable |
| South Asian | 0.0060 | 0.0058 | notable |
| Other | 0.0042 | 0.0042 | notable |
dbNSFP Gene Annotations
Source:
Intolerance Scores
- RVIS EVS
- 0.47
- RVIS percentile EVS
- 78.8
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.114
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |