TRIR

telomerase RNA component interacting RNase

Basic information

Region (hg38): 19:12730639-12734684

Previous symbols: [ "C19orf43" ]

Links

ENSG00000123144 ∙ NCBI:79002 ∙ ∙ HGNC:28424 ∙ Uniprot:Q9BQ61 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TRIR gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRIR gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			2			2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	2	0	0

Variants in TRIR

This is a list of pathogenic ClinVar variants found in the TRIR region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
19-12731403-C-T		not specified	Uncertain significance (Oct 12, 2021)
19-12734639-G-A		not specified	Uncertain significance (Jul 13, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TRIR	protein_coding	protein_coding	ENST00000242784	3	4136

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.474	0.505	124969	0	2	124971	0.00000800

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.88	36	84.8	0.425	0.00000465	1101
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000936	0.0000936
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• 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

Haploinsufficiency Scores

• pHI: 0.171
• hipred: Y
• hipred_score: 0.706
• ghis: 0.612

Essentials

• essential_gene_gene_trap: E

Mouse Genome Informatics

• Gene name: Trir

Gene ontology

• Biological process: rRNA catabolic process;RNA phosphodiester bond hydrolysis, exonucleolytic
• Molecular function: RNA binding;protein binding;3'-5' exonuclease activity;5'-3' exonuclease activity