GTEx eQTL Analysis for m6Am Methyltransferase PCIF1

Expression quantitative trait locus (eQTL) outputs from the GTEx project focus on the m6Am methyltransferase PCIF1 and its association with bone mineral traits. The dataset is a 12.9 KB XLSX file shared by author Wei Song on figshare, last updated in April 2026. It supports findings from GWAS, TWAS, and single-cell transcriptomic analyses linking PCIF1 to mesenchymal stem cell differentiation and osteoporosis.

Use Cases

• Identify eQTL associations for the PCIF1 gene using GTEx-derived statistical outputs.
• Correlate m6Am regulator activity with expression changes in Wnt pathway genes like WNT11, FZD4, and FGFR2.
• Validate genetic associations from GWAS and TWAS studies related to human bone mineral density traits.
• Investigate the regulatory impact of m6Am methylation on mRNA stability and degradation rates in mesenchymal stem cells.

Strengths

• Integrates findings from multiple complementary analyses: GWAS, TWAS, and single-cell transcriptomics.
• Shared under a permissive CC-BY-4.0 license, enabling reuse and redistribution.
• Data is recent, with a last update timestamp of April 2026.

Limitations

• The dataset is very small at 12.9 KB, indicating limited scope, likely containing summary statistics rather than raw data.
• Specific row count, column names, and sample data are unavailable, hindering immediate assessment of structure and depth.
• Findings are primarily based on mouse models and in vitro analyses, with human genetic associations inferred from public datasets.

Provenance

Source

GTEx (Genotype-Tissue Expression) project outputs, analyzed and shared by Wei Song.

Collection Method

Analysis of eQTL data, combined with GWAS, TWAS, and single-cell transcriptomics from the described study.

Freshness

Last updated on 2026-04-06.