METTL1

Chr 12

methyltransferase 1, tRNA methylguanosine

Also known as: C12orf1, TRM8, TRMT8, YDL201w

This gene is similar in sequence to the S. cerevisiae YDL201w gene. The gene product contains a conserved S-adenosylmethionine-binding motif and is inactivated by phosphorylation. Alternative splice variants encoding different protein isoforms have been described for this gene. A pseudogene has been identified on chromosome X. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
105
Pubs (1 yr)
P/LP submissions
P/LP missense
1.02
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.02LOEUF
pLI 0.002
Z-score 1.52
OE 0.52 (0.281.02)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.24Z-score
OE missense 0.95 (0.831.08)
157 obs / 165.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.52 (0.281.02)
00.351.4
Missense OE?0.95 (0.831.08)
00.61.4
Synonymous OE?1.03
01.21.6
LoF obs/exp: 6 / 11.6Missense obs/exp: 157 / 165.7Syn Z: -0.21

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

METTL1 · 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

No active trials found for this gene.

Search ClinicalTrials.gov →