TRIR
protein-codingtelomerase RNA component interacting RNase
Gene summary
Enables 3'-5' exonuclease activity and 5'-3' exonuclease activity. Involved in rRNA catabolic process. [provided by Alliance of Genome Resources, Jul 2025]
- C19orf43
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~4.0 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 TRIR variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_024038.4. 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 | 3 | 3 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 3 | 0 | 0 | 3 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_076943.1 | 3 | MANE Select | |
| Ensembl | ENSP00000242784.3 | 3 | MANE Select | |
| RefSeq | NP_001316667.1 | 2 | Standard | |
| RefSeq | NP_001316668.1 | 2 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- rRNA catabolic process
- RNA phosphodiester bond hydrolysis, exonucleolytic
Molecular Function
- RNA binding
- protein binding
- 3'-5' exonuclease activity
- 5'-3' exonuclease activity
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000242784
- Coding exons
- 3
- Length
- 4136
- Individuals with no LoFs
- 124969
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 2
- Defined
- 124971
- p
- 0.00000800
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 1.88 | 36 | 84.8 | 0.425 | 0.00000465 | 1101 |
| Missense (PolyPhen) | 17 | 38.838 | 0.43772 | 416 | ||
| Synonymous | 0.0847 | 37 | 37.7 | 0.982 | 0.00000243 | 368 |
| Loss of Function | 1.84 | 1 | 5.79 | 0.173 | 2.50e-7 | 83 |
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 | 0.000094 | 0.000094 | rare |
| European (Non-Finnish) | 0 | 0.0 | absent |
| South Asian | 0 | 0.0 | absent |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Exoribonuclease that is part of the telomerase RNA 3' end processing complex and which has the ability to all four unpaired RNA nucleotides from 5' end or 3' end with higher efficiency for purine bases (PubMed:28322335). {ECO:0000269|PubMed:28322335}.;
Recessive Scores
- pRec
- 0.104
Essentials
- Essential (gene trap)
- E