Table 1_Burden of novel and ultra-rare missense variants in the NF-κB pathway genes associ

Pablo Cruz-Granados uploaded this dataset to figshare on May 15, 2026. It contains analysis results from a study investigating ultra-rare heterozygous variants in TLR9, TNFRSF1B, and FAS genes in Ménière’s disease patients. The dataset includes findings from protein modelling, receptor-ligand docking, and splicing predictions.

Use Cases

• Identify genetic associations between ultra-rare variants and immune phenotypes based on the described TLR9, TNFRSF1B, and FAS variants.
• Analyze predicted protein destabilization effects based on the described atomic interaction changes in TNFRSF1B and FAS.
• Investigate potential cryptic splice site creation based on the splicing predictions for TLR9 and TNFRSF1B variants.
• Study the relationship between genetic factors and comorbid autoimmune disorders based on the described link to distinct immune phenotypes.

Strengths

• Dataset is licensed under CC-BY-4.0, allowing for open reuse and distribution.
• The description provides specific gene names (TLR9, TNFRSF1B, FAS) and variant locations.
• Analysis includes multiple methodologies: protein modelling, docking, and splicing prediction.

Limitations

• Row count is unknown, which may limit suitability assessment.
• Column-level documentation is absent; field semantics must be inferred after download.
• The dataset is small at 94.8 KB, indicating limited scope.

Provenance

Source

figshare

Collection Method

Analysis of exome data pertaining to NF-κB pathway genes, retrieved epigenetic and transcriptomic data, protein modelling, and docking.

Freshness

Last updated 2026-05-15 04:26:47; freshness should be verified.