USF1

Chr 1

upstream transcription factor 1

Also known as: FCHL, FCHL1, HYPLIP1, MLTF, MLTFI, UEF, bHLHb11

NCBI Gene: 7391ENSG00000158773UniProt: P22415OMIM: 191523

This gene encodes a member of the basic helix-loop-helix leucine zipper family, and can function as a cellular transcription factor. The encoded protein can activate transcription through pyrimidine-rich initiator (Inr) elements and E-box motifs. This gene has been linked to familial combined hyperlipidemia (FCHL). Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been defined on chromosome 21. [provided by RefSeq, Feb 2013]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

{Hyperlipidemia, familial combined, susceptibility to}MIM #602491

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
34
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.58
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.58LOEUF
pLI 0.024
Z-score 3.02
OE 0.31 (0.18–0.58)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.14Z-score
OE missense 0.56 (0.48–0.66)
107 obs / 190.2 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.31 (0.18–0.58)
0≤0.351.4
Missense OE?0.56 (0.48–0.66)
0≤0.61.4
Synonymous OE?0.98
0≤1.21.6
LoF obs/exp: 7 / 22.5Missense obs/exp: 107 / 190.2Syn Z: 0.11

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

USF1 · 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