Gene table of DKC1 : dyskerin pseudouridine synthase 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with DKC1	OMIM link	Number of associated genes	genes
PS127550	DYSKERATOSIS CONGENITA	ClinVar, OMIM, HUMSAVAR	link to OMIM	10	NOP10, WRAP53, TERT, ACD, TINF2, PARN, RTEL1, NHP2, DKC1, TERC

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

REACTOME pathway	REACTOME ID	REACTOME IC
Cell Cycle	R-HSA-1640170	3.89
Chromosome Maintenance	R-HSA-73886	6.56
Telomere Extension By Telomerase	R-HSA-171319	10.4
Extension of Telomeres	R-HSA-180786	8.12
Telomere Maintenance	R-HSA-157579	7.1

Associated GO terms for Molecular function

GO term	GO ID	GO IC
nucleotidyltransferase activity	GO:0016779	4.81
RNA-directed DNA polymerase activity	GO:0003964	6.85
nucleic acid binding	GO:0003676	1.44
protein binding	GO:0005515	0.46
RNA binding	GO:0003723	2.36
organic cyclic compound binding	GO:0097159	1.05
poly(A) RNA binding	GO:0044822	2.69
pseudouridine synthase activity	GO:0009982	7.17
telomerase RNA binding	GO:0070034	7.1
catalytic activity	GO:0003824	1.05
transferase activity	GO:0016740	1.95
binding	GO:0005488	0.18
telomerase activity	GO:0003720	7.79
transferase activity, transferring phosphorus-containing groups	GO:0016772	2.77
box H/ACA snoRNA binding	GO:0034513	8.35
intramolecular transferase activity	GO:0016866	6.44
snoRNA binding	GO:0030515	6.41
heterocyclic compound binding	GO:1901363	1.06
DNA polymerase activity	GO:0034061	5.93
isomerase activity	GO:0016853	4.62