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Table 1 NEASE enrichment obtained from AS comparison between normal-appearing white matter and acute lesions, from multiple sclerosis patients. The highly enriched pathways belong to Neurotransmitter receptors, MAPK, and bacterial infection. Most of these pathways are hallmarks of MS. The NEASE score is obtained after combining the p value with the number of significant genes. The latter is obtained after individual tests for each gene in the column “Spliced genes” (see the “Methods” section)

From: Functional enrichment of alternative splicing events with NEASE reveals insights into tissue identity and diseases

Pathway name

Spliced genes (number of interactions affecting the pathway)

p value

adj p value

NEASE score

Neurotransmitter receptors and postsynaptic signal transmission

GRIA1 (7), ATP2B1 (2), BRAF (4), MAP2K4 (1), GRIN1 (4)

4.38e−09

0.000004

16.71

Uptake and function of anthrax toxins

ATP2B1 (1), BRAF (5), MAP2K4 (3)

2.98e−09

0.000004

14.76

Transmission across chemical synapses

GRIA1 (7), ATP2B1 (2), BRAF (4), MAP2K4 (1), GRIN1 (4)

5.65e−08

0.000010

14.49

Uptake and actions of bacterial toxins

ATP2B1 (1), BRAF (5), MAP2K4 (3)

3.46e−08

0.000009

12.92

Neuronal system

GRIA1 (7), ATP2B1 (2), BRAF (4), MAP2K4 (1), GRIN1 (4)

8.71e−07

0.000122

12.11

MAPK family signaling cascades

MYH10 (2), ATP2B1 (1), BRAF (17), MAP2K4 (5), GRIN1 (3)

1.52e−06

0.000184

10.07

Activation of NMDA receptor and postsynaptic events

GRIA1 (2), ATP2B1 (1), BRAF (4), MAP2K4 (1), GRIN1 (3)

2.12e−06

0.000241

9.82

FCERI mediated MAPK activation

MYH10 (1), BRAF (7), MAP2K4 (8)

2.52e−07

0.000038

9.33

RAF/MAP kinase cascade

MYH10 (1), ATP2B1 (1), BRAF (16), MAP2K4 (4), GRIN1 (3)

1.00e−06

0.000130

8.48

Signaling by moderate kinase activity BRAF mutants

MYH10 (1), BRAF (14), MAP2K4 (2)

8.30e−09

0.000004

8.08