SETD7

Chr 4

SET domain containing 7, histone lysine methyltransferase

Also known as: KMT7, SET7, SET7/9, SET9

NCBI Gene: 80854ENSG00000145391UniProt: Q8WTS6OMIM: 606594

Enables histone H3 methyltransferase activity; p53 binding activity; and protein-lysine N-methyltransferase activity. Involved in peptidyl-lysine dimethylation and peptidyl-lysine monomethylation. Acts upstream of or within DNA damage response and heterochromatin organization. Located in chromosome and nucleolus. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
44
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.74
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.74LOEUF
pLI 0.004
Z-score 2.38
OE 0.39 (0.22–0.74)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.66Z-score
OE missense 0.68 (0.59–0.78)
143 obs / 210.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.39 (0.22–0.74)
0≤0.351.4
Missense OE?0.68 (0.59–0.78)
0≤0.61.4
Synonymous OE?1.03
0≤1.21.6
LoF obs/exp: 7 / 17.8Missense obs/exp: 143 / 210.7Syn Z: -0.23

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SETD7 · 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