NFXL1

Chr 4

nuclear transcription factor, X-box binding like 1

Also known as: CDZFP, HOZFP, OZFP, URCC5

NCBI Gene: 152518ENSG00000170448UniProt: Q6ZNB6OMIM: 620488

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of DNA-templated transcription. Located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…

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
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.51
LOEUF
GOF
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.51LOEUF
pLI 0.000
Z-score 4.51
OE 0.34 (0.24–0.51)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.39Z-score
OE missense 0.82 (0.76–0.89)
399 obs / 485.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.34 (0.24–0.51)
0≤0.351.4
Missense OE?0.82 (0.76–0.89)
0≤0.61.4
Synonymous OE?0.95
0≤1.21.6
LoF obs/exp: 19 / 55.1Missense obs/exp: 399 / 485.3Syn Z: 0.49

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

NFXL1 · 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