TRIM66
protein-codingtripartite motif containing 66, the group of Tripartite motif family|Bromodomain containing|PHD finger proteins
Gene summary
Predicted to enable chromatin binding activity; identical protein binding activity; and zinc ion binding activity. Predicted to act upstream of or within negative regulation of DNA-templated transcription. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]
- C11orf29
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~70.7 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 TRIM66 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001388022.1. 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 | 1 | 3 | |||
| missense | 189 | 12 | 2 | 203 | ||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 190 | 14 | 3 | 207 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001374951.1 | 21 | MANE Select | |
| Ensembl | ENSP00000495413.1 | 21 | MANE Select | |
| RefSeq | NP_001374952.1 | 21 | Standard | |
| RefSeq | NP_001374953.1 | 21 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- negative regulation of transcription, DNA-templated
Molecular Function
- chromatin binding
- zinc ion binding
Cellular Component
- nucleus
- nucleoplasm
- aggresome
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000402157
- Coding exons
- 19
- Length
- 59830
- Individuals with no LoFs
- 0
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 0
- Defined
- 0
- p
- 0.00
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 1.29 | 546 | 638 | 0.856 | 0.0000317 | 8130 |
| Missense (PolyPhen) | 160 | 228.94 | 0.69886 | 2999 | ||
| Synonymous | 2.08 | 206 | 248 | 0.832 | 0.0000123 | 2446 |
| Loss of Function | 3.50 | 28 | 56.3 | 0.497 | 0.00000296 | 638 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0 | 0.0 | absent |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0 | 0.0 | absent |
| South Asian | 0 | 0.0 | absent |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: May function as transcription repressor; The repressive effects are mediated, at least in part, by recruitment of deacetylase activity. May play a role as negative regulator of postmeiotic genes acting through CBX3 complex formation and centromere association (By similarity). {ECO:0000250}.;
Recessive Scores
- pRec
- 0.0846
Essentials
- Essential (CRISPR2)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.0273
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | High | Medium | High |
| Primary Immunodeficiency | High | High | High |
| Cancer | High | High | High |