Table 3.

Top FDR-corrected gene sets from GSEA in discovery and replication cohort

Gene set nameFDR valueSignificant genes/all genesENCODE-enriched peaks
Discovery cohort 
 GO: REGULATION OF ORGANELLE ORGANIZATION AND BIOGENESIS 0.0030 34/40 210 
 KEGG: T CELL RECEPTOR SIGNALING PATHWAY 0.0046 80/108 699 
 GO: MICROTUBULE BASED PROCESS 0.0047 59/82 382 
 GO: OXIDOREDUCTASE ACTIVITY GO 0016616 0.0048 40/58 261 
 GO: NEGATIVE REGULATION OF DEVELOPMENTAL PROCESS 0.0049 146/197 649 
Replication cohort 
 GO: CARBOHYDRATE CATABOLIC PROCESS 0.0037 18/24 13 
 KEGG: DRUG METABOLISM CYTOCHROME P450 0.0038 61/72 148 
 GO: METAL ION TRANSPORT 0.0040 91/117 621 
 GO: CELLULAR CARBOHYDRATE CATABOLIC PROCESS 0.0041 17/23 13 
 KEGG: STARCH AND SUCROSE METABOLISM 0.0041 43/52 
Gene set nameFDR valueSignificant genes/all genesENCODE-enriched peaks
Discovery cohort 
 GO: REGULATION OF ORGANELLE ORGANIZATION AND BIOGENESIS 0.0030 34/40 210 
 KEGG: T CELL RECEPTOR SIGNALING PATHWAY 0.0046 80/108 699 
 GO: MICROTUBULE BASED PROCESS 0.0047 59/82 382 
 GO: OXIDOREDUCTASE ACTIVITY GO 0016616 0.0048 40/58 261 
 GO: NEGATIVE REGULATION OF DEVELOPMENTAL PROCESS 0.0049 146/197 649 
Replication cohort 
 GO: CARBOHYDRATE CATABOLIC PROCESS 0.0037 18/24 13 
 KEGG: DRUG METABOLISM CYTOCHROME P450 0.0038 61/72 148 
 GO: METAL ION TRANSPORT 0.0040 91/117 621 
 GO: CELLULAR CARBOHYDRATE CATABOLIC PROCESS 0.0041 17/23 13 
 KEGG: STARCH AND SUCROSE METABOLISM 0.0041 43/52 

The GSEA package lists regulatory elements from ENCODE (Encyclopedia of DNA Elements) projects. The “ENCODE-enriched peaks” column contains the number of statistically significant peaks (P < .05) identified in each gene set. The enrichment peaks were obtained from DNase-seq, FAIRE-Seq (formaldehyde-assisted isolation of regulatory elements), TFBS (transcription factor binding sites) chromatin immunoprecipitation sequencing (ChIP)-seq, and histone ChIP-seq within the ENCODE project.

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