Table 1 Over-represented GO pathways of interest identified with Metascape using the differentially expressed genes (DEGs) from the selected clusters

From: GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

Category

ID

Term

Count

List Total

Genes

pval

BP

GO:0007601

visual perception

13

161

Abca4, Pcdh15, Rp1, Tulp1, Ush2a, Atp8a2, Cacna1f, Cabp4, Nxnl2, Rpgrip1, Pde6c, Arr3, Cngb1

4.944e-11

CC

GO:0097730

non-motile cilium

12

166

Abca4, Pcdh15, Rp1, Tulp1, Ush2a, Nphp1, 1700029J07Rik, Rpgrip1, Arr3, Cfap69, Cerkl, Cngb1

1.016e-09

BP

GO:0042461

photoreceptor cell development

7

66

Rp1, Tulp1, Nphp1, Cabp4, Rpgrip1, Pde6c, Cngb1

2.548e-07

BP

GO:0009416

response to light stimulus

12

322

Cdkn1a, Mc1r, Ppp1r1b, Rp1, Abcc8, Tulp1, Abca7, Atp8a2, Cacna1f, Cabp4, Pde6c, Cngb1

1.480e-06

  1. The pathway categories include biological process and cell compartment. The edgeR package was employed for normalization: the hypergeometric test employed by Metascape is inherently one-sided.
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