Integrate GTEx tissue expression with regulatory data
gtex-expressionskillsetup L2★35
ammawla/encode-toolkit ↗What it does
Integrate GTEx tissue expression data with ENCODE regulatory elements
Best for
Validating that genes near ENCODE regulatory elements are actually expressed in the matching tissue
Inputs
- · ENCODE enhancer peaks
- · gene ID (Ensembl)
- · tissue name
Outputs
- · median TPM by tissue
- · transcript-level expression
- · eQTL associations
Requires
- · GTEx REST API (gtexportal.org/api/v2)
Preconditions
Ensembl gene IDs for matching (not HGNC symbols)
Failure modes
- · Gene not expressed in bulk GTEx
- · Enhancer-gene distance assumptions wrong
- · Cell-type specificity hidden by bulk data
Trust signals
- · GTEx v8 (54 tissues, 948 donors)
- · GTEx Consortium 2020 Nature publication
- · 54 tissue panel