SMUG1

Chr 12

single-strand-selective monofunctional uracil-DNA glycosylase 1

Also known as: FDG, HMUDG, UNG3

This gene encodes a protein that participates in base excision repair by removing uracil from single- and double-stranded DNA. Many alternatively spliced transcript variants exist for this gene; the full-length nature is known for some but not all of the variants. [provided by RefSeq, Aug 2011]

OMIMResearchGenerating clinical summary…
0
Active trials
19
Pubs (1 yr)
P/LP submissions
P/LP missense
1.08
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.08LOEUF
pLI 0.000
Z-score 1.37
OE 0.58 (0.331.08)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.86Z-score
OE missense 0.81 (0.700.94)
128 obs / 158.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.58 (0.331.08)
00.351.4
Missense OE?0.81 (0.700.94)
00.61.4
Synonymous OE?0.86
01.21.6
LoF obs/exp: 7 / 12.2Missense obs/exp: 128 / 158.5Syn Z: 0.86

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SMUG1 · 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 →