TET1

Chr 10

tet methylcytosine dioxygenase 1

Also known as: CXXC6, LCX, bA119F7.1

NCBI Gene: 80312ENSG00000138336UniProt: Q8NFU7OMIM: 607790

DNA methylation is an epigenetic mechanism that is important for controlling gene expression. The protein encoded by this gene is a demethylase that belongs to the TET (ten-eleven translocation) family. Members of the TET protein family play a role in the DNA methylation process and gene activation. [provided by RefSeq, Sep 2015]

OMIMResearchGenerating 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
201
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.17
LOEUF· LoF intol.
LOF
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.17LOEUF
pLI 1.000
Z-score 7.32
OE 0.09 (0.05–0.17)
Highly constrained

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

Missense Constraint?
1.62Z-score
OE missense 0.86 (0.82–0.91)
970 obs / 1123.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.09 (0.05–0.17)
0≤0.351.4
Missense OE?0.86 (0.82–0.91)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 7 / 75.7Missense obs/exp: 970 / 1123.1Syn Z: 0.07

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TET1 · 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