SUPT20HL1

Chr X

SUPT20H like 1

Also known as: FAM48B1, SPT20L

NCBI Gene: 100130302ENSG00000223731UniProt: Q3ZLR7

Predicted to enable transcription coregulator activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be part of SAGA complex. [provided by Alliance of Genome Resources, Jul 2025]

173
ClinVar variants
80
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— SUPT20HL1
📋
ClinVar Variants
80 Pathogenic / Likely Pathogenic· 10 VUS of 173 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

173 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic79
Likely Pathogenic1
VUS10
Likely Benign10
79
Pathogenic
1
Likely Pathogenic
10
VUS
10
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
79
0
79
Likely Pathogenic
0
0
1
0
1
VUS
0
0
10
0
10
Likely Benign
0
3
1
6
10
Benign
0
0
0
0
0
Total03916100

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

SUPT20HL1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

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