NFX1

Chr 9

nuclear transcription factor, X-box binding 1

NFX1 encodes a transcriptional repressor that binds to X-box motifs in MHC class II gene promoters to regulate their expression and limit the duration of inflammatory responses induced by interferon-gamma. The gene is highly constrained against loss-of-function variants (LOEUF 0.457), but pathogenic variants and associated human disease phenotypes have not been definitively established in the literature. Additional research is needed to determine the clinical significance of NFX1 variants in pediatric patients.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.46
Clinical SummaryNFX1
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.31) despite low pLI — interpret in context.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint
0.46LOEUF
pLI 0.000
Z-score 4.99
OE 0.31 (0.220.46)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.41Z-score
OE missense 0.84 (0.780.90)
520 obs / 618.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.31 (0.220.46)
00.351.4
Missense OE0.84 (0.780.90)
00.61.4
Synonymous OE0.94
01.21.6
LoF obs/exp: 19 / 61.1Missense obs/exp: 520 / 618.8Syn Z: 0.67

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

NFX1 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗