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Table 3 Top 5 most significant and SETX function-related Gene Ontology (GO) categories for ALS4 disease-associated WGCNA modules

From: De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy

Module name

Gene ontology category

ALS4MmMod02 overall

1. GO:0099536 ~ synaptic signaling

2. GO:0007399 ~ nervous system development

3. GO:0031223 ~ auditory behavior

4. GO:0046903 ~ secretion

5. GO:0032990 ~ cell part morphogenesis

ALS4MmMod02 SETX function

1. GO:0007218 ~ neuropeptide signaling pathway

2. GO:0006915 ~ apoptotic process

3. GO:0051254 ~ positive regulation of RNA metabolic process

4. GO:0010628 ~ positive regulation of gene expression

5. GO:0006259 ~ DNA metabolic process

ALS4MmMod32 overall

1. GO:0021536 ~ diencephalon development

2. GO:0051271 ~ negative regulation of cellular component movement

3. GO:0007159 ~ leukocyte cell–cell adhesion

4. GO:0022409 ~ positive regulation of cell–cell adhesion

5 GO:0010604 ~ positive regulation of macromolecule metabolic process

ALS4MmMod32 SETX function

1. GO:0048853 ~ forebrain morphogenesis

2. GO:0007517 ~ muscle organ development

3. GO:0007399 ~ nervous system development

4. GO:0010468 ~ regulation of gene expression

5. GO:0051254 ~ positive regulation of RNA metabolic process

ALS4HsMod77 overall

1. GO:0015031 ~ protein transport

2. GO:0043067 ~ regulation of programmed cell death

3. GO:0034308 ~ primary alcohol metabolic process

4. GO:0008299 ~ isoprenoid biosynthetic process

5. GO:0051046 ~ regulation of secretion

ALS4HsMod77 SETX function

1. GO:0050804 ~ modulation of synaptic transmission

2. GO:0006915 ~ apoptotic process

3. GO:0006887 ~ exocytosis

4. GO:0045773 ~ positive regulation of axon extension

5. GO:0050684 ~ regulation of mRNA processing