SUPT3H

Chr 6

SPT3 homolog, SAGA and STAGA complex component

Also known as: SPT3, SPT3L

NCBI Gene: 8464ENSG00000196284UniProt: O75486

Enables transcription coactivator activity. Involved in regulation of transcription by RNA polymerase II. Located in nucleoplasm. Part of SAGA complex and transcription factor TFTC complex. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.26
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.26LOEUF
pLI 0.000
Z-score 0.65
OE 0.85 (0.59–1.26)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.11Z-score
OE missense 0.98 (0.86–1.11)
169 obs / 173.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.85 (0.59–1.26)
0≤0.351.4
Missense OE?0.98 (0.86–1.11)
0≤0.61.4
Synonymous OE?0.94
0≤1.21.6
LoF obs/exp: 18 / 21.2Missense obs/exp: 169 / 173.2Syn Z: 0.37

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SUPT3H · 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