cyberneticlibrary

Integrate GTEx tissue expression with regulatory data

gtex-expressionskillsetup L235
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