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Table 4 GSEA analysis of biological process and Kegg pathways most highly ranked gene sets

From: RNA-Seq analysis of Gtf2ird1 knockout epidermal tissue provides potential insights into molecular mechanisms underpinning Williams-Beuren syndrome

GSEA Biological process gene set (Up-regulated genes)

NESa

GSEA Biological process gene set (Down-regulated genes)

NESa

Rna_Processing

4.62

Anatomical Structure Development

−4.05

Cell Cycle Process

4.49

System Process

−3.98

Cell Cycle Go0007049

4.19

System Development

−3.72

Cell Cycle Phase

4.04

Organ Development

−3.69

M Phase

3.97

Multicellular Organismal Development

−3.39

Mitotic Cell Cycle

3.94

Cell Cell Signaling

−3.19

M Phase Of Mitotic Cel Cycle

3.81

Muscle Development

−3.18

Rna Metabolic Process

3.76

Skeletal Development

−3.15

Mrna Metabolic Process

3.66

Anatomical Structure Morphogenesis

−3.04

Dna_Metabolic_Process

3.61

Synaptic Transmission

−2.96

Mitosis

3.60

Organ Morphogenesis

−2.92

Mrna Processing Go0006397

3.39

Striated Muscle Contraction Go 0006941

−2.84

Response To Dna Damage Stimulus

3.38

Ion Transport

−2.75

Dna Repair

3.37

Transmission Of Nerve Impulse

−2.70

Chromosome Organization And Biogenesis

3.18

Amine Metabolic Process

−2.68

Ribonucleoprotein Complex Biogenesis And Assembly

3.14

Nervous System Development

−2.66

Intracellular Transport

2.99

Neurological System Process

−2.62

Translation

2.99

Generation Of Precursor Metabolites And Energy

−2.50

Rna_Splicing

2.97

Regulation Of Growth

−2.44

Nucleocytoplasmic Transport

2.96

Regulation Of Cell Growth

−2.41

Nuclear Transport

2.95

Cation Transport

−2.38

Response To Endogenous Stimulus

2.95

Nitrogen Compound Metabolic Process

−2.36

Establishment Of Cellular Localization

2.89

Metal Ion Transport

−2.29

Cell Cycle Checkpoint Go 0000075

2.89

Calcium Independent Cell Cell Adhesion

−2.26

Cellular Localization

2.85

Transforming Growth Factor Beta Receptor Signaling Pathway

−2.26

GSEA Kegg Pathways gene set

NES

GSEA Kegg Pathways gene set

NES

Kegg Spliceosome

4.06

Kegg Parkinsons Disease

−4.56

Kegg Ribosome

3.93

Kegg Oxidative Phosphorylation

−4.28

Kegg Cytosolic Dna Sensing Pathway

3.46

Kegg Alzheimers Disease

−4.07

Kegg Nod Like Receptor Signaling Pathway

3.45

Kegg Ecm Receptor Interaction

−3.73

Kegg Nucleotide Excision Repair

3.07

Kegg Basal Cell Carcinoma

−3.71

Kegg Rig I Like Receptor Signaling Pathway

2.85

Kegg Huntingtons Disease

−3.67

Kegg T Cell Receptor Signaling Pathway

2.83

Kegg Cardiac Muscle Contraction

−3.18

Kegg Cell Cycle

2.78

Kegg Melanogenesis

−3.12

Kegg Proteasome

2.74

Kegg Hedgehog Signaling Pathway

−3.07

Kegg Rna Degradation

2.68

Kegg Neuroactive Ligand Receptor Interaction

−2.85

Kegg Toll Like Receptor Signaling Pathway

2.60

Kegg Dilated Cardiomyopathy

−2.74

Kegg Aminoacyl Trna Biosynthesis

2.57

Kegg Glycosaminoglycan Biosynthesis Keratan Sulfate

−2.56

Kegg Antigen Processing And Presentation

2.38

Kegg Hypertrophic Cardiomyopathy Hcm

−2.36

Kegg Ubiquitin Mediated Proteolysis

2.35

Kegg Focal Adhesion

−2.33

Kegg Primary Immunodeficiency

2.33

Kegg Calcium Signaling Pathway

−2.28

Kegg Dna Replication

2.33

Kegg Arrhythmogenic Right Ventricular Cardiomyopathy Arvc

−2.27

Kegg Non Homologous End Joining

2.28

Kegg Ppar Signaling Pathway

−2.18

Kegg Homologous Recombination

2.15

Kegg Glycosphingolipid Biosynthesis Ganglio Series

−2.02

Kegg Basal Transcription Factors

2.15

Kegg Peroxisome

−2.01

Kegg Pyrimidine Metabolism

2.15

Kegg Glycosphingolipid Biosynthesis Lacto And Neolacto Series

−2.00

Kegg Epithelial Cell Signaling In Helicobacter Pylori Infection

2.12

Kegg Glycosaminoglycan Biosynthesis Chondroitin Sulfate

−1.98

Kegg Apoptosis

2.06

Kegg Vascular Smooth Muscle Contraction

−1.96

Kegg Mismatch Repair

2.01

Kegg Other Glycan Degradation

−1.89

Kegg One Carbon Pool By Folate

1.88

Kegg Wnt Signaling Pathway

−1.84

  1. aNES: Normalised enrichment score calculated using the GSEApreranked tool