ARMCX1

Chr X

armadillo repeat containing X-linked 1

Also known as: ALEX1, GASP7

NCBI Gene: 51309ENSG00000126947UniProt: Q9P291

This gene encodes a member of the ALEX family of proteins and may play a role in tumor suppression. The encoded protein contains a potential N-terminal transmembrane domain and two Armadillo (arm) repeats. Other proteins containing the arm repeat are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is closely localized with other family members, including ALEX2 and ALEX3, on the X chromosome. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.95
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.95LOEUF
pLI 0.073
Z-score 1.66
OE 0.37 (0.17–0.95)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.83Z-score
OE missense 0.61 (0.52–0.72)
107 obs / 175.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.37 (0.17–0.95)
0≤0.351.4
Missense OE?0.61 (0.52–0.72)
0≤0.61.4
Synonymous OE?0.93
0≤1.21.6
LoF obs/exp: 3 / 8.1Missense obs/exp: 107 / 175.0Syn Z: 0.46

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ARMCX1 · 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