Gene table of EMG1 : EMG1, N1-specific pseudouridine methyltransferase

Gene-disease associations table

Disease ID	Disease name	Source of annotation with EMG1	OMIM link	Number of associated genes	genes
211180	BOWEN-CONRADI SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	EMG1

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Ribosome biogenesis in eukaryotes	hsa03008	6.54

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
rRNA methyltransferase activity	GO:0008649	7.17
catalytic activity	GO:0003824	1.05
organic cyclic compound binding	GO:0097159	1.05
poly(A) RNA binding	GO:0044822	2.69
rRNA (pseudouridine) methyltransferase activity	GO:0070037	9.74
rRNA binding	GO:0019843	5.68
RNA methyltransferase activity	GO:0008173	5.93
transferase activity	GO:0016740	1.95
transferase activity, transferring one-carbon groups	GO:0016741	4.3
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
S-adenosylmethionine-dependent methyltransferase activity	GO:0008757	4.81
methyltransferase activity	GO:0008168	4.35
heterocyclic compound binding	GO:1901363	1.06
nucleic acid binding	GO:0003676	1.44
RNA binding	GO:0003723	2.36