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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