TNRC18

Chr 7

trinucleotide repeat containing 18

Also known as: CAGL79, TNRC18A

NCBI Gene: 84629ENSG00000182095UniProt: O15417

Enables histone H3K9me2/3 reader activity. Involved in protein localization to chromatin and transposable element silencing by heterochromatin formation. Located in cytosol; mitochondrion; and nucleus. Is active in chromatin and nucleus. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.29
LOEUF· LoF intol.
LOF
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.29LOEUF
pLI 0.991
Z-score 6.91
OE 0.19 (0.13–0.29)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
-0.26Z-score
OE missense 1.02 (0.98–1.06)
1647 obs / 1617.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.19 (0.13–0.29)
0≤0.351.4
Missense OE?1.02 (0.98–1.06)
0≤0.61.4
Synonymous OE?1.33
0≤1.21.6
LoF obs/exp: 16 / 84.6Missense obs/exp: 1647 / 1617.3Syn Z: -7.12

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TNRC18 · protein map & ClinVar variants

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

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

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients