TEX10
Chr 9testis expressed 10
The TEX10 protein functions as a component of the Five Friends of Methylated CHTOP (5FMC) complex that regulates gene transcription through ZNF148 desumoylation and also participates in the PELP1 complex required for 28S rRNA maturation and pre-60S ribosomal subunit processing. Mutations in TEX10 cause autosomal recessive neurodevelopmental disorders through loss-of-function mechanisms. The gene is highly intolerant to loss-of-function variation, with a pLI score near 1.0 and very low LOEUF score of 0.163.
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
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
Protein Context — Lollipop Plot
TEX10 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools