ARMCX4

Chr X

armadillo repeat containing X-linked 4

Also known as: CXorf35, GASP4

NCBI Gene: 100131755ENSG00000196440UniProt: Q5H9R4

The product of this gene belongs to the armadillo repeat-containing family of proteins, which interact with other proteins in a variety of cellular processes. The function of this family member is currently unknown. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]

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0
Active trials
0
Pubs (1 yr)
0
P/LP submissions
—
P/LP missense
0.12
LOEUF· LoF intol.
LOF
Mechanism· predicted
Clinical Summary— ARMCX4
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.12LOEUF
pLI 1.000
Z-score 5.62
OE 0.03 (0.01–0.12)
Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint
2.64Z-score
OE missense 0.73 (0.68–0.78)
559 obs / 764.2 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.03 (0.01–0.12)
0≤0.351.4
Missense OE0.73 (0.68–0.78)
0≤0.61.4
Synonymous OE0.74
0≤1.21.6
LoF obs/exp: 1 / 38.7Missense obs/exp: 559 / 764.2Syn Z: 3.49
DN
0.3494th %ile
GOF
0.2995th %ile
LOF
0.67top 25%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.12

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ARMCX4 · 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.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Identification of potential pathogenic mutations in Chinese children with first branchial cleft anomalies detected by whole-exome sequencing
Yang Y et al.·Pediatr Investig
2021
GPRASP/ARMCX Protein Family: Potential Involvement in Health and Diseases Revealed by their Novel Interacting Partners.
Kaeffer J et al.·Curr Top Med Chem
2021
Identification of key gene modules and pathways of human platelet transcriptome in acute myocardial infarction patients through co-expression network.
Zhang B et al.·Am J Transl Res
2021Cohort
Identification of Potential Genes and Critical Pathways in Postoperative Recurrence of Crohn's Disease by Machine Learning And WGCNA Network Analysis.
Rajalingam A et al.·Curr Genomics
2023
ARMC Subfamily: Structures, Functions, Evolutions, Interactions, and Diseases
Huang Y et al.·Front Mol Biosci
2021
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

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