NKX6-1

Chr 4

NK6 homeobox 1

Also known as: NKX6.1, NKX6A

NCBI Gene: 4825ENSG00000163623UniProt: P78426OMIM: 602563

In the pancreas, NKX6.1 is required for the development of beta cells and is a potent bifunctional transcription regulator that binds to AT-rich sequences within the promoter region of target genes Iype et al. (2004) [PubMed 15056733].[supplied by OMIM, Mar 2008]

OMIMResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.00
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.00LOEUF
pLI 0.063
Z-score 1.58
OE 0.39 (0.18–1.00)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.08Z-score
OE missense 0.73 (0.61–0.87)
90 obs / 123.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.39 (0.18–1.00)
0≤0.351.4
Missense OE?0.73 (0.61–0.87)
0≤0.61.4
Synonymous OE?1.07
0≤1.21.6
LoF obs/exp: 3 / 7.7Missense obs/exp: 90 / 123.7Syn Z: -0.41

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

NKX6-1 · 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