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Table 5 Enrichment Analysis (C9Plus vs. C9Minus)

From: Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriers

Module Dir Source Order Process/Pathway P-value FDR
MEblack Up KEGG 1 KEGG_ANTIGEN_PROCESSING_AND_PRESENTATION 3.31E-06 4.34E-04
2 KEGG_SPLICEOSOME 3.80E-04 0.02
GO-BP 1 GO_PROTEIN_FOLDING 4.24E-29 8.97E-26
2 GO_RESPONSE_TO_TOPOLOGICALLY_INCORRECT_PROTEIN 6.40E-19 7.55E-16
MEdarkorange Up KEGG 1 KEGG_ECM_RECEPTOR_INTERACTION 0.04 0.67
2 KEGG_FOCAL_ADHESION 0.10 1.00
GO-BP 1 GO_PROTEIN_HETEROOLIGOMERIZATION 0.001 0.06
2 GO_REGULATION_OF_CARBOHYDRATE_METABOLIC_PROCESS 0.003 0.14
MEblue Up KEGG 1 KEGG_SPLICEOSOME 0.002 0.09
2 KEGG_RNA_DEGRADATION 0.04 0.68
GO-BP 1 GO_RNA_SPLICING 7.85E-12 4.57E-09
2 GO_RNA_PROCESSING 9.98E-12 5.56E-09
MEyellow Down KEGG 1 KEGG_PEROXISOME 4.48E-06 5.00E-04
2 KEGG_DNA_REPLICATION 3.65E-04 0.02
GO-BP 1 GO_SMALL_MOLECULE_METABOLIC_PROCESS 4.33E-09 1.58E-06
2 GO_CELLULAR_AMINO_ACID_METABOLIC_PROCESS 3.34E-08 1.01E-05
MEred Down KEGG 1 KEGG_ECM_RECEPTOR_INTERACTION 1.52E-07 3.38E-05
2 KEGG_FOCAL_ADHESION 3.67E-06 4.34E-04
GO-BP 1 GO_EXTRACELLULAR_STRUCTURE_ORGANIZATION 1.56E-16 1.45E-13
2 GO_TISSUE_DEVELOPMENT 2.61E-12 1.54E-09
MEwhite Down KEGG 1 KEGG_RIBOSOME 1.49E-05 0.001
2 KEGG_PROTEIN_EXPORT 0.01 0.32
GO-BP 1 GO_PEPTIDE_METABOLIC_PROCESS 1.57E-07 4.08E-05
2 GO_CELLULAR_AMIDE_METABOLIC_PROCESS 6.22E-07 1.34E-04
MEgreen Down KEGG 1 KEGG_PARKINSONS_DISEASE 1.74E-08 5.23E-06
2 KEGG_HUNTINGTONS_DISEASE 1.50E-06 2.17E-04
GO-BP 1 GO_GOLGI_VESICLE_TRANSPORT 3.53E-09 1.33E-06
2 GO_SMALL_MOLECULE_METABOLIC_PROCESS 5.83E-09 2.05E-06
MEroyalblue Down KEGG 1 KEGG_FOCAL_ADHESION 1.56E-07 3.38E-05
2 KEGG_COMPLEMENT_AND_COAGULATION_CASCADES 2.70E-07 5.03E-05
GO-BP 1 GO_VASCULATURE_DEVELOPMENT 2.11E-17 2.18E-14
2 GO_BLOOD_VESSEL_MORPHOGENESIS 4.64E-17 4.65E-14
MEsalmon Up KEGG 1 KEGG_PROTEASOME 3.80E-06 4.36E-04
2 KEGG_ALZHEIMERS_DISEASE 2.59E-04 0.02
GO-BP 1 GO_MITOCHONDRION_ORGANIZATION 1.02E-11 5.64E-09
2 GO_CELLULAR_MACROMOLECULAR_COMPLEX_ASSEMBLY 2.34E-08 7.38E-06
MEgreenyellow Up KEGG 1 KEGG_TAURINE_AND_HYPOTAURINE_METABOLISM 1.26E-04 0.009
2 KEGG_BETA_ALANINE_METABOLISM 9.26E-04 0.04
GO-BP 1 GO_CEREBRAL_CORTEX_GABAERGIC_INTERNEURON_DIFFERENTIATION 3.80E-09 1.41E-06
2 GO_GABAERGIC_NEURON_DIFFERENTIATION 8.92E-09 3.02E-06
MEturquoise Up KEGG 1 KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION 6.26E-13 2.72E-10
2 KEGG_CALCIUM_SIGNALING_PATHWAY 3.22E-09 1.14E-06
GO-BP 1 GO_SYNAPTIC_SIGNALING 2.36E-50 6.29E-47
2 GO_MODULATION_OF_SYNAPTIC_TRANSMISSION 6.15E-40 1.47E-36
  1. For significant modules, results of the enrichment analysis are specified when comparing C9orf72 expansion carriers to patients without this expansion (C9Plus vs. C9Minus). Each time, the direction of the change (Dir), process or pathway, p-value, and false discovery rate (FDR) are incorporated. Kyoto Encyclopedia of Genes and Genomes (KEGG) and Gene Ontology – Biological Processes (GO-BP) were used. Of note, this table has been generated after adjustment for cell-type-specific markers