CXORF58

Chr X

chromosome X open reading frame 58

This gene encodes a protein of unknown function located on the X chromosome. Mutations cause X-linked intellectual disability, and the gene shows minimal constraint against loss-of-function variants (very low pLI score). The clinical phenotype and inheritance pattern suggest X-linked recessive inheritance affecting primarily males.

LOEUF 1.41
Clinical SummaryCXORF58
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Some data sources returned errors (1)

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.41LOEUF
pLI 0.000
Z-score 0.49
OE 0.85 (0.541.41)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.40Z-score
OE missense 0.90 (0.771.05)
116 obs / 128.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.85 (0.541.41)
00.351.4
Missense OE0.90 (0.771.05)
00.61.4
Synonymous OE1.02
01.21.6
LoF obs/exp: 11 / 12.9Missense obs/exp: 116 / 128.9Syn Z: -0.11

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CXORF58 · 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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