G-Tract-AG Motifs: A Genomic Signature Regulating Splicing and Disease

Approximately 9,000 G-tract-AG motifs within human genes are disrupted by variants from the Genotype-Tissue Expression project, linking them to splicing regulation and disease. This dataset provides a framework for functionally annotating non-coding region single-nucleotide variants associated with diverse traits from genome-wide association studies. G-tracts repress splicing at adjacent AG dinucleotides, and their disruption by variants can generate novel transcript isoforms.

Use Cases

• Identifying candidate functional non-coding variants from GWAS based on G-tract-AG motif disruption.
• Investigating mechanisms of cryptic splice site activation in diseases like cancer.
• Annotating rare genetic disease variants that may affect transcriptome diversity via splicing changes.
• Validating cis-splicing quantitative trait loci (sQTLs) from projects like GTEx using a mechanistic model.

Strengths

• Contains data on approximately 9,000 G-tract-AG motifs within human genes disrupted by variants.
• Mechanistic insights are derived from experimental validation of G-tract function in stalling the second transesterification step of splicing.
• Released under a permissive CC-BY-4.0 license, facilitating reuse and redistribution.

Limitations

• Column names and a precise row count are not provided, limiting immediate understanding of the data structure.
• The dataset's size is given as 614897 (likely in kilobytes), but the exact composition of this file (e.g., number of tables, annotations) is unspecified.
• Relies on inferred data types from descriptions; the actual tabular schema is unknown.

Provenance

Source

Research by Jian Yang, associated with the study 'A Mammalian Genomic Signature Shaped by Single Nucleotide Variants Regulates Transcriptome Integrity and Diversity'.

Collection Method

Likely contains genomic coordinates, motif annotations, and variant associations derived from public resources like GTEx and GWAS catalogs.

Freshness

Last updated on 2026-03-20.