Table 2_Burden of novel and ultra-rare missense variants in the NF-κB pathway genes associ

Exome data analysis identifies ultra-rare heterozygous variants in TLR9, TNFRSF1B, and FAS genes in Ménière’s disease patients. The dataset includes results from protein modelling, receptor-ligand docking, and splicing predictions. It was authored by Pablo Cruz-Granados and last updated on 2026-05-15.

Use Cases

• Identify genetic risk factors for Ménière’s disease based on ultra-rare variant data.
• Investigate the relationship between immune phenotypes and genetic variants based on transcriptomic and epigenetic data.
• Predict protein structural and functional impacts based on protein modelling and docking results.
• Analyze splicing alterations based on predicted cryptic donor/acceptor sites.

Strengths

• Includes data from exome, transcriptomic, and epigenetic analyses, suggesting a multi-omics approach.
• Protein modelling and docking provide mechanistic insights into variant effects.
• License is CC-BY-4.0, allowing for open reuse.

Limitations

• Column-level documentation is absent; field semantics must be inferred after download.
• Row count is unknown, which may limit suitability assessment.
• The 3.0 MB file size suggests a relatively small dataset.

Provenance

Source

figshare

Collection Method

Analysis of exome data pertaining to NF-κB pathway genes, combined with retrieved epigenetic and transcriptomic data.

Freshness

Last updated 2026-05-15 04:26:47