TRMT61A

Chr 14

tRNA methyltransferase 61A

Also known as: C14orf172, GCD14, Gcd14p, TRM61, hTRM61

NCBI Gene: 115708ENSG00000166166UniProt: Q96FX7

Enables mRNA (adenine-N1-)-methyltransferase activity. Involved in mRNA processing. Part of tRNA (m1A) methyltransferase complex. [provided by Alliance of Genome Resources, Jul 2025]

108
ClinVar variants
56
Pathogenic / LP
0.02
pLI score
0
Active trials
Clinical Summary— TRMT61A
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.02) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
56 Pathogenic / Likely Pathogenic· 50 VUS of 108 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.97LOEUF
pLI 0.024
Z-score 1.65
OE 0.42 (0.21–0.97)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
1.28Z-score
OE missense 0.75 (0.66–0.86)
160 obs / 212.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.42 (0.21–0.97)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.75 (0.66–0.86)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.97
0≤1.21.6
LoF obs/exp: 4 / 9.5Missense obs/exp: 160 / 212.5Syn Z: 0.25

ClinVar Variant Classifications

108 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic54
Likely Pathogenic2
VUS50
Likely Benign2
54
Pathogenic
2
Likely Pathogenic
50
VUS
2
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
54
0
54
Likely Pathogenic
0
1
1
0
2
VUS
0
42
8
0
50
Likely Benign
0
2
0
0
2
Benign
0
0
0
0
0
Total045630108

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

TRMT61A · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
RNA m(1)A methyltransferase TRMT61A promotes colorectal tumorigenesis by enhancing ONECUT2 mRNA stability and is a potential therapeutic target.
Zhang X et al.·Cancer Commun (Lond)
2025
RNA modification Regulators' Co-Expression Score (RMRCoeS) predicts biochemical recurrence and therapy response in prostate cancer: A multi-omics and experimental validation study.
Cai Z et al.·Int Immunopharmacol
2024
m(1)A-Dependent TRMT6/61A-ARG2 Axis Drives Protumorigenic Senescence by Remodeling the Tumor Microenvironment.
Li T et al.·Adv Sci (Weinh)
2026Functional
Identification of hepatoblastoma susceptibility loci in the TRMT6 gene from a seven-center case-control study.
Ma L et al.·J Cell Mol Med
2024
Epitranscriptomics Regulation of CD70, CD80, and TIGIT in Cancer Immunity.
Rigopoulos CP et al.·Int J Mol Sci
2025
Association of Genetically Predicted BCAA Levels with Muscle Fiber Size in Athletes Consuming Protein.
Hall ECR et al.·Genes (Basel)
2022
The m6A/m5C/m1A regulator genes signature reveals the prognosis and is related with immune microenvironment for hepatocellular carcinoma.
Liu T et al.·BMC Gastroenterol
2023
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools