TRIM15
protein-codingtripartite motif containing 15, the group of Tripartite motif family|Ring finger proteins
Gene summary
The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to the cytoplasm. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
- ZNF178
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~9.5 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 TRIM15 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_033229.3. 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 | 1 | 1 | ||||
| missense | 63 | 1 | 64 | |||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 65 | 1 | 0 | 66 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_150232.2 | 7 | MANE Select | |
| Ensembl | ENSP00000365884.4 | 7 | MANE Select | |
| Ensembl | ENSP00000398285.1 | 5 | Standard | |
| Ensembl | ENSP00000484001.1 | 8 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- mesodermal cell fate determination
- positive regulation of type I interferon production
- innate immune response
- positive regulation of DNA-binding transcription factor activity
- positive regulation of NF-kappaB transcription factor activity
Molecular Function
- protein binding
- zinc ion binding
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000376694
- Coding exons
- 7
- Length
- 9481
- Individuals with no LoFs
- 125455
- Homozygous LoFs
- 1
- Heterozygous LoFs
- 292
- Defined
- 125748
- p
- 0.00117
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.412 | 245 | 264 | 0.929 | 0.0000138 | 2992 |
| Missense (PolyPhen) | 51 | 64.715 | 0.78807 | 782 | ||
| Synonymous | 1.26 | 102 | 120 | 0.853 | 0.00000737 | 927 |
| Loss of Function | 0.626 | 14 | 16.8 | 0.835 | 8.66e-7 | 185 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00025 | 0.00025 | rare |
| Latino/Admixed American | 0.0035 | 0.0035 | notable |
| Ashkenazi Jewish | 0.0056 | 0.0056 | notable |
| East Asian | 0.00016 | 0.00016 | rare |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.00086 | 0.00082 | rare |
| South Asian | 0.00027 | 0.00023 | rare |
| Other | 0.0015 | 0.0015 | notable |
dbNSFP Gene Annotations
Source:
Intolerance Scores
- LoFtool
- 0.856
- RVIS EVS
- 1.91
- RVIS percentile EVS
- 97.36
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.883
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |