ZNF365
protein-codingzinc finger protein 365, the group of Zinc fingers C2H2-type
Gene summary
This gene encodes a zinc finger protein that may play a role in the repair of DNA damage and maintenance of genome stability. The N-terminal C2H2 zinc finger motif is required to form a protein complex with PARP1 and MRE11, which are known to be involved in the restart of stalled DNA replication forks. A mutation in this gene may be associated with breast cancer susceptibility. [provided by RefSeq, Mar 2020]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~106.1 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 ZNF365 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_014951.3. 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 | 2 | 2 | ||||
| missense | 28 | 28 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 28 | 2 | 0 | 30 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_055766.2 | 4 | MANE Select | |
| Ensembl | ENSP00000378674.3 | 4 | MANE Select | |
| RefSeq | NP_955522.1 | 4 | Standard | |
| Ensembl | ENSP00000378675.3 | 4 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- telomere maintenance
- regulation of double-strand break repair via homologous recombination
- negative regulation of neuron projection development
- cerebellar molecular layer morphogenesis
- positive regulation of oligodendrocyte differentiation
Molecular Function
- protein binding
- metal ion binding
Cellular Component
- cytoplasm
- microtubule organizing center
- intracellular membrane-bounded organelle
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000410046
- Coding exons
- 7
- Length
- 297821
- Individuals with no LoFs
- 125734
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 14
- Defined
- 125748
- p
- 0.0000557
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.660 | 228 | 258 | 0.884 | 0.0000146 | 3021 |
| Missense (PolyPhen) | 65 | 81.097 | 0.80151 | 969 | ||
| Synonymous | 0.611 | 98 | 106 | 0.925 | 0.00000651 | 896 |
| Loss of Function | 2.39 | 9 | 20.8 | 0.434 | 0.00000105 | 241 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0.000029 | 0.000029 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00027 | 0.00027 | rare |
| Finnish | 0.000046 | 0.000046 | rare |
| European (Non-Finnish) | 0.000018 | 0.000018 | rare |
| South Asian | 0.00016 | 0.00016 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: May play a role in uric acid excretion.;
- Disease
- DISEASE: Uric acid nephrolithiasis (UAN) [MIM:605990]: A form of nephrolithiasis, a common multifactorial disease characterized by stones formation in the kidney and urinary tract. Nephrolithiasis is due to supersaturation of the urine by stone-forming constituents, including calcium, oxalate and uric acid. Crystals or foreign bodies can act as nidi, upon which ions from the supersaturated urine form microscopic crystalline structures. Uric acid nephrolithiasis occurs when the urine becomes overly concentrated with uric acid and accounts for 20% of all stones. {ECO:0000269|PubMed:12740763}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.;
Recessive Scores
- pRec
- 0.0714
Intolerance Scores
- LoFtool
- 0.464
- RVIS EVS
- 1.74
- RVIS percentile EVS
- 96.63
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.348
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |