Table 2.
Validation of RNA-seq data using whole-mount in situ hybridization in zebrafish.
| Gene name | Description | Human phenotype | RNA-seq log2(FC) | RNA-seq p-value | In situ hybridization |
|---|---|---|---|---|---|
| fam50a | Family with sequence similarity 50, member A | ND | −3 | 3.47E-233 | Downregulated |
| gss | Glutathione synthetase | Glutathione synthetase deficiency | −1.39 | 4.08E-26 | Downregulated |
| aaas | Achalasia, adrenocortical insufficiency, alacrimia | Achalasia-addisonianism-alacrimia syndrome | −1.21 | 1.83E-12 | Downregulated |
| huwe1 | HECT, UBA and WWE domain containing 1 | Mental retardation, X-linked syndromic, Turner type | −0.14 | 0.71 | Downregulated |
| vwa7 | von Willebrand factor A domain containing 7 | ND | −0.99 | 1.07E-49 | Downregulated |
| eda | Ectodysplasin A | Ectodermal dysplasia, X-linked recessive; tooth agenesis | −0.60 | 0.02 | Downregulated |
| pcna | Proliferating cell nuclear antigen | Ataxia-telangiectasia-like disorder 2 | −0.08 | 0.72 | Downregulated |
| her4.1 | Hairy-related 4, tandem duplicate 1 | ND | −0.07 | 0.9 | Downregulated |
| ccnd1 | Cyclin D1 | ND | −0.01 | 0.97 | Downregulated |
| snapc4 | Small nuclear RNA activating complex, polypeptide 4 | ND | 2.79 | 9.16E-281 | Upregulated |
| cdkn1a | Cyclin-dependent kinase inhibitor 1A | ND | 2.40 | 9.87E-103 | Upregulated |
| ice1 | KIAA0947-like (H. sapiens) | ND | 2.29 | 9.81E-220 | Upregulated |
| mettl16 | Methyltransferase-like 16 | ND | 2.23 | 4.93E-156 | Upregulated |
| tp53 | Tumor protein p53 | ND | 2.16 | 3.14E-217 | Upregulated |
| mdm2 | MDM2 oncogene, E3 ubiquitin protein ligase | ND | 1.98 | 3.88E-163 | Upregulated |
| prpf31 | PRP31 pre-mRNA processing factor 31 homolog (yeast) | Retinitis pigmentosa | 1.75 | 1.25E-147 | Upregulated |
| prpf3 | PRP3 pre-mRNA processing factor 3 homolog (yeast) | Retinitis pigmentosa | 1.7 | 5.23E-149 | Upregulated |
| eftud2 | Elongation factor Tu GTP binding domain containing 2 | Mandibulofacial dysostosis | 1.45 | 1.01E-142 | Upregulated |
| prpf4 | PRP4 pre-mRNA processing factor 4 homolog (yeast) | Retinitis pigmentosa | 1.38 | 3.95E-74 | Upregulated |
| snrpe | Small nuclear ribonucleoprotein polypeptide E | Hypotrichosis | 1.30 | 1.16E-15 | Upregulated |
| snrnp200 | Small nuclear ribonucleoprotein 200 (U5) | NA | 1.09 | 5.49E-63 | Upregulated |
| prpf8 | Pre-mRNA processing factor 8 | Retinitis pigmentosa | 0.87 | 2.46E-33 | Upregulated |
| prpf6 | PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) | Retinitis pigmentosa | 0.72 | 6.35E-49 | Upregulated |
| eif4a3 | Eukaryotic translation initiation factor 4A3 | Robin sequence with cleft mandible and limb anomalies | 0.55 | 9.95E-21 | Upregulated |
p-values determined with a Wald test.
FC, fold change; ND, none described.