Table 2_Preliminary examination of noncoding mutations of esophageal squamous cell carcino

Noncoding mutation data from whole-exome sequencing of 10 African American patients with esophageal squamous cell carcinoma. The dataset includes variants in 3′UTR, 5′UTR, splice site, and promoter regions, analyzed using tools like Variant Effect Predictor and CScape-somatic. It was authored by Hayriye V. Erkizan and last updated on April 12, 2026.

Use Cases

• Prioritizing noncoding somatic variants for functional validation based on pathogenicity scores from CScape-somatic.
• Investigating germline variation enrichment in DNA damage repair genes among ESCC patients.
• Performing pathway enrichment analysis on mutated genes using the SIGNOR database.
• Comparing mutation profiles in regulatory regions like promoters and UTRs across cancer cohorts.

Strengths

• Data is derived from a specific cohort of 10 African American ESCC patients, a population often underrepresented in genomics.
• Analysis includes multiple noncoding genomic regions (3′UTR, 5′UTR, splice site, promoter) and uses established bioinformatics tools.
• Dataset is openly available under a CC-BY-4.0 license, facilitating reuse and sharing.

Limitations

• Row count and column-level documentation are unknown, which limits suitability assessment and requires manual inspection after download.
• The dataset is very small at 11.2 KB, indicating a preliminary analysis with limited sample size.
• Description metadata is limited; actual data quality and field semantics must be inferred after download.

Provenance

Source

figshare, authored by Hayriye V. Erkizan.

Collection Method

Whole-exome sequencing using Agilent SureSelect XT Human All Exon V6+UTR capture, with variant calling and subsequent noncoding mutation analysis.

Freshness

Last updated 2026-04-12 22:01:14; freshness should be verified.

Geography

Patient cohort is identified as African American; specific geographic origin is not stated.