SETD6

Chr 16

SET domain containing 6, protein lysine methyltransferase

This gene encodes a methyltransferase that adds a methyl group to the histone H2AZ, which is involved in nuclear receptor-dependent transcription. The protein also interacts with several endogenous proteins which are involved in nuclear hormone receptor signaling. A related pseudogene is located on chromosome 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

ResearchGenerating clinical summary…
0
Active trials
7
Pubs (1 yr)
P/LP submissions
P/LP missense
1.63
LOEUF
Mechanism
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?
1.63LOEUF
pLI 0.000
Z-score -0.74
OE 1.17 (0.851.63)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.39Z-score
OE missense 1.07 (0.971.18)
270 obs / 252.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.17 (0.851.63)
00.351.4
Missense OE?1.07 (0.971.18)
00.61.4
Synonymous OE?1.26
01.21.6
LoF obs/exp: 25 / 21.3Missense obs/exp: 270 / 252.6Syn Z: -2.11

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SETD6 · 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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