OGG1

Chr 3

8-oxoguanine DNA glycosylase

Also known as: HMMH, HOGG1, MUTM, OGH1

This gene encodes the enzyme responsible for the excision of 8-oxoguanine, a mutagenic base byproduct which occurs as a result of exposure to reactive oxygen. The action of this enzyme includes lyase activity for chain cleavage. Alternative splicing of the C-terminal region of this gene classifies splice variants into two major groups, type 1 and type 2, depending on the last exon of the sequence. Type 1 alternative splice variants end with exon 7 and type 2 end with exon 8. All variants share the N-terminal region in common, which contains a mitochondrial targeting signal that is essential for mitochondrial localization. Many alternative splice variants for this gene have been described, but the full-length nature for every variant has not been determined. [provided by RefSeq, Aug 2008]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Renal cell carcinoma, clear cell, somaticMIM #144700
0
Active trials
143
Pubs (1 yr)
P/LP submissions
P/LP missense
1.30
LOEUF
Mechanism
📖
GeneReview available — OGG1
Authoritative clinical overview · Recommended first read
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.30LOEUF
pLI 0.000
Z-score 0.49
OE 0.89 (0.621.30)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.57Z-score
OE missense 1.10 (1.001.22)
271 obs / 245.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.89 (0.621.30)
00.351.4
Missense OE?1.10 (1.001.22)
00.61.4
Synonymous OE?1.15
01.21.6
LoF obs/exp: 19 / 21.5Missense obs/exp: 271 / 245.8Syn Z: -1.21

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

OGG1 · 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.

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