Gene table of CHKB : choline kinase beta

Gene-disease associations table

Disease ID	Disease name	Source of annotation with CHKB	OMIM link	Number of associated genes	genes
602541	MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE	ClinVar, OMIM	link to OMIM	1	CHKB

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
Metabolic pathways	hsa01100	2.49
Choline metabolism in cancer	hsa05231	6.09
Glycerophospholipid metabolism	hsa00564	6.15

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Synthesis of PC	R-HSA-1483191	8.73
Phospholipid metabolism	R-HSA-1483257	5.83
Glycerophospholipid biosynthesis	R-HSA-1483206	6.46
Metabolism	R-HSA-1430728	2.34
Synthesis of PE	R-HSA-1483213	9.4
Metabolism of lipids and lipoproteins	R-HSA-556833	3.79

Associated GO terms for Molecular function

GO term	GO ID	GO IC
purine ribonucleoside triphosphate binding	GO:0035639	2.22
binding	GO:0005488	0.18
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
nucleoside binding	GO:0001882	2.21
nucleotide binding	GO:0000166	1.96
transferase activity	GO:0016740	1.95
ethanolamine kinase activity	GO:0004305	8.35
purine nucleoside binding	GO:0001883	2.22
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
ATP binding	GO:0005524	2.43
choline kinase activity	GO:0004103	9.05
kinase activity	GO:0016301	2.93
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
phosphotransferase activity, alcohol group as acceptor	GO:0016773	3.08
adenyl ribonucleotide binding	GO:0032559	2.41
transferase activity, transferring phosphorus-containing groups	GO:0016772	2.77
purine ribonucleotide binding	GO:0032555	2.2
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19