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Table 6 Enrichment Analysis (C9Plus vs. Control)

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

Module

Dir

Source

Order

Process/Pathway

P-value

FDR

MEskyblue

Up

KEGG

1

KEGG_MELANOGENESIS

4.24E-04

0.04

2

KEGG_NOTCH_SIGNALING_PATHWAY

7.46E-04

0.06

GO-BP

1

GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS

5.27E-05

0.008

2

GO_REGULATION_OF_INTRACELLULAR_STEROID_HORMONE_RECEPTOR_SIGNALING_PATHWAY

5.66E-05

0.009

MEpaleturquoise

Up

KEGG

1

KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION

1.09E-04

0.01

2

KEGG_TAURINE_AND_HYPOTAURINE_METABOLISM

1.80E-04

0.02

GO-BP

1

GO_CEREBRAL_CORTEX_GABAERGIC_INTERNEURON_DIFFERENTIATION

7.95E-09

3.97E-06

2

GO_GABAERGIC_NEURON_DIFFERENTIATION

1.87E-08

8.41E-06

MEturquoise

Up

KEGG

1

KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION

4.56E-15

2.26E-12

2

KEGG_CALCIUM_SIGNALING_PATHWAY

2.44E-06

6.06E-04

GO-BP

1

GO_SYNAPTIC_SIGNALING

3.79E-33

1.06E-29

2

GO_CELL_CELL_SIGNALING

3.59E-23

8.31E-20

MEyellow

Down

KEGG

1

KEGG_PEROXISOME

5.76E-07

1.71E-04

2

KEGG_VALINE_LEUCINE_AND_ISOLEUCINE_DEGRADATION

1.60E-05

0.003

GO-BP

1

GO_SMALL_MOLECULE_METABOLIC_PROCESS

1.44E-16

2.10E-13

2

GO_ORGANIC_ACID_CATABOLIC_PROCESS

1.23E-14

1.39E-11

MEgreen

Down

KEGG

1

KEGG_CITRATE_CYCLE_TCA_CYCLE

6.15E-05

0.009

2

KEGG_PYRUVATE_METABOLISM

0.002

0.11

GO-BP

1

GO_ORGANIC_ACID_METABOLIC_PROCESS

6.24E-08

2.49E-05

2

GO_GOLGI_VESICLE_TRANSPORT

7.76E-08

2.98E-05

MEorange

Down

KEGG

1

KEGG_PARKINSONS_DISEASE

4.93E-34

1.10E-30

2

KEGG_OXIDATIVE_PHOSPHORYLATION

3.39E-32

5.04E-29

GO-BP

1

GO_NUCLEOSIDE_TRIPHOSPHATE_METABOLIC_PROCESS

5.35E-29

1.46E-25

2

GO_OXIDATIVE_PHOSPHORYLATION

1.74E-28

4.63E-25

MEtan

Down

KEGG

1

KEGG_GLYCINE_SERINE_AND_THREONINE_METABOLISM

5.51E-07

1.71E-04

2

KEGG_FATTY_ACID_METABOLISM

6.55E-07

1.83E-04

GO-BP

1

GO_OXIDATION_REDUCTION_PROCESS

8.53E-18

1.40E-14

2

GO_BIOLOGICAL_ADHESION

1.39E-15

1.93E-12

MEblack‘

Up

KEGG

1

KEGG_BASAL_TRANSCRIPTION_FACTORS

0.002

0.11

2

KEGG_SPLICEOSOME

0.02

0.48

GO-BP

1

GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS

6.04E-09

3.11E-06

2

GO_CHROMATIN_MODIFICATION

4.90E-08

2.00E-05

MEdarkred

Down

KEGG

1

KEGG_LYSOSOME

0.004

0.18

2

KEGG_STEROID_BIOSYNTHESIS

0.005

0.19

GO-BP

1

GO_ENSHEATHMENT_OF_NEURONS

4.31E-05

0.007

2

GO_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION

5.22E-05

0.008

MEmidnightblue

Up

KEGG

1

KEGG_ANTIGEN_PROCESSING_AND_PRESENTATION

5.26E-05

0.008

2

KEGG_SYSTEMIC_LUPUS_ERYTHEMATOSUS

0.001

0.09

GO-BP

1

GO_PROTEIN_FOLDING

2.29E-21

4.69E-18

2

GO_PROTEIN_REFOLDING

9.27E-12

8.16E-09

MEsteelblue

Up

KEGG

1

KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION

0.001

0.09

2

KEGG_APOPTOSIS

0.002

0.11

GO-BP

1

GO_INFLAMMATORY_RESPONSE

7.44E-06

0.002

2

GO_CELL_DEATH

1.23E-05

0.002

  1. For significant modules, results of the enrichment analysis are specified when comparing C9orf72 expansion carriers to control subjects (C9Plus vs. Control). 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