GSEA reveals a similar pattern of upregulated pathways across all patient groups studied
| Name . | FANC rank . | SBDS rank . | DKC1 rank . | TRI rank . | SNGL rank . | Mean NES . |
|---|---|---|---|---|---|---|
| Ribosome* | 1 | 4 | 1 | 2 | 1 | 6.62 |
| Peptide chain elongation* | 4 | 3 | 2 | 1 | 2 | 6.28 |
| Influenza viral RNA transcription and replication† | 3 | 1 | 4 | 5 | 3 | 6.10 |
| SRP-dependent co-translational protein targeting to membrane* | 11 | 2 | 3 | 3 | 5 | 5.99 |
| 3′ UTR-mediated translational regulation* | 6 | 13 | 5 | 4 | 4 | 5.89 |
| Translation* | 7 | 7 | 6 | 6 | 7 | 5.77 |
| Nonsense-mediated decay enhanced by the exon junction complex‡ | 8 | 9 | 7 | 7 | 6 | 5.64 |
| Influenza life cycle† | 13 | 8 | 9 | 8 | 8 | 5.05 |
| Metabolism of mRNA‡ | 15 | 12 | 10 | 9 | 9 | 4.72 |
| Metabolism of RNA‡ | 16 | 14 | 13 | 10 | 10 | 4.51 |
| Respiratory electron transport§ | 2 | 6 | 11 | 15 | 12 | 4.39 |
| Respiratory electron transport ATP synthesis§ | 5 | 10 | 12 | 14 | 14 | 4.33 |
| Metabolism of proteins* | 17 | 15 | 8 | 12 | 16 | 4.30 |
| Oxidative phosphorylation§ | 9 | 5 | 18 | 16 | 13 | 4.19 |
| Parkinson’s disease† | 10 | 11 | 23 | 17 | 17 | 3.88 |
| TCA cycle and respiratory electron transport§ | 14 | 17 | 19 | 18 | 18 | 3.61 |
| Huntington’s disease† | 18 | 16 | 31 | 19 | 19 | 3.15 |
| Name . | FANC rank . | SBDS rank . | DKC1 rank . | TRI rank . | SNGL rank . | Mean NES . |
|---|---|---|---|---|---|---|
| Ribosome* | 1 | 4 | 1 | 2 | 1 | 6.62 |
| Peptide chain elongation* | 4 | 3 | 2 | 1 | 2 | 6.28 |
| Influenza viral RNA transcription and replication† | 3 | 1 | 4 | 5 | 3 | 6.10 |
| SRP-dependent co-translational protein targeting to membrane* | 11 | 2 | 3 | 3 | 5 | 5.99 |
| 3′ UTR-mediated translational regulation* | 6 | 13 | 5 | 4 | 4 | 5.89 |
| Translation* | 7 | 7 | 6 | 6 | 7 | 5.77 |
| Nonsense-mediated decay enhanced by the exon junction complex‡ | 8 | 9 | 7 | 7 | 6 | 5.64 |
| Influenza life cycle† | 13 | 8 | 9 | 8 | 8 | 5.05 |
| Metabolism of mRNA‡ | 15 | 12 | 10 | 9 | 9 | 4.72 |
| Metabolism of RNA‡ | 16 | 14 | 13 | 10 | 10 | 4.51 |
| Respiratory electron transport§ | 2 | 6 | 11 | 15 | 12 | 4.39 |
| Respiratory electron transport ATP synthesis§ | 5 | 10 | 12 | 14 | 14 | 4.33 |
| Metabolism of proteins* | 17 | 15 | 8 | 12 | 16 | 4.30 |
| Oxidative phosphorylation§ | 9 | 5 | 18 | 16 | 13 | 4.19 |
| Parkinson’s disease† | 10 | 11 | 23 | 17 | 17 | 3.88 |
| TCA cycle and respiratory electron transport§ | 14 | 17 | 19 | 18 | 18 | 3.61 |
| Huntington’s disease† | 18 | 16 | 31 | 19 | 19 | 3.15 |
Pathways are selected by family-wise error rate (FWER < 0.05) and are ordered by the average expression score across all the subtypes. The rank of each pathway is based on how significantly the pathway is upregulated in each disease subtype, with rank number 1 having the lowest FWER statistic.
ATP, adenosine triphosphate; mRNA, messenger RNA; NES, normalized expression score; SRP, signal recognition protein; TCA, tricarboxylic acid; UTR, untranslated region.
Ribosome and protein translation.
Other pathways.
Nonsense-mediated decay and RNA metabolism.
Redox bioenergetic pathways.