Table 1_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 variants for functional validation based on pathogenicity scores from CScape-somatic and Variant Effect Predictor.
• Investigating germline variation enrichment in DNA damage repair genes among ESCC patients as described.
• Performing pathway enrichment analysis on identified noncoding mutations using the SIGNOR database.
• Comparing mutation profiles in regulatory regions like promoters and UTRs across a small patient cohort.

Strengths

• Data is derived from whole-exome sequencing using the Agilent SureSelect XT Human All Exon V6+UTR capture kit.
• Includes analysis of variants in specific functional regions: 3′UTR, 5′UTR, splice site, and promoter.
• Released under a permissive CC-BY-4.0 license, allowing for broad reuse.

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 (307.7 KB), indicating a limited scope from a preliminary examination of 10 patients.

Provenance

Source

Hayriye V. Erkizan via figshare.

Collection Method

Whole-exome sequencing and bioinformatic analysis using Variant Effect Predictor, CScape-somatic, HumanBase, and Opencravat.

Freshness

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

Geography

Patients are identified as African American; specific geographic origin is not stated.