Gene table of SEPSECS : Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase

Gene-disease associations table

Disease ID	Disease name	Source of annotation with SEPSECS	OMIM link	Number of associated genes	genes
PS607596	PONTOCEREBELLAR HYPOPLASIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	13	AMPD2, EXOSC3, CLP1, SEPSECS, TSEN34, TSEN2, PCLO, VPS53, TSEN54, KCNT1, RARS2, VRK1, CHMP1A

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
Selenocompound metabolism	hsa00450	8.6
Aminoacyl-tRNA biosynthesis	hsa00970	7.31

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
tRNA binding	GO:0000049	5.95
nucleic acid binding	GO:0003676	1.44
organic cyclic compound binding	GO:0097159	1.05
catalytic activity	GO:0003824	1.05
transferase activity	GO:0016740	1.95
transferase activity, transferring selenium-containing groups	GO:0016785	9.74
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
phosphoseryl-selenocysteinyl-tRNA selenium transferase activity	GO:0098621	9.74
heterocyclic compound binding	GO:1901363	1.06
RNA binding	GO:0003723	2.36