Hs07512847_cn

• Gene Symbol: CHKB
• Assay Reference Genome Location: Chr.22:50579985 on build GRCh38
• Cytoband: 22q13.33

Target Gene Details

• Entrez Gene ID: 1120
• Gene Name: choline kinase beta
• Gene Aliases: CHETK, CHKL, CK, CKB, CKEKB, EK, EKB, MDCMC
• Location: Chr.22:50578958-50582999 on Build GRCh38
• Assay Gene Location: Overlaps Intron 8 - Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CHKB	NM_005198.4			NP_005189.2
	AB029886.1			BAA82512.1
	AK097775.1
	AK314324.1
	AL096780.1			CAB46629.1
	AL096781.1			CAB46630.1
	BC082263.1			AAH82263.1
	BC101488.1
	BC113521.1
	BE676287.1
	CR456419.1			CAG30305.1

Target Gene Details

• Entrez Gene ID: 386593
• Gene Name: CHKB-CPT1B readthrough (NMD candidate)
• Gene Aliases: CHKL-CPT1B
• Location: Chr.22:50568861-50582999 on Build GRCh38
• Assay Gene Location: Overlaps Intron 8 - Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CHKB-CPT1B	NR_027928.2
	AB051457.1			BAB33340.1
	AK301477.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1059234	Chr.22:50560544 - 50617472 on Build GRCh38	Gain	MAPK8IP2 SYCE3 CPT1B CHKB-AS1 CHKB-CPT1B CHKB
nsv1057656	Chr.22:50478783 - 50595520 on Build GRCh38	Gain	KLHDC7B ADM2 ODF3B SYCE3 SCO2 CHKB-AS1 CHKB-CPT1B MIOX CHKB TYMP NCAPH2 LMF2 CPT1B
nsv471224	Chr.22:50435189 - 50580482 on Build GRCh38	Loss	KLHDC7B ADM2 ODF3B SYCE3 SCO2 CHKB-CPT1B MIOX CHKB TYMP SBF1 NCAPH2 PPP6R2 LMF2 CPT1B
nsv829340	Chr.22:50505720 - 50603696 on Build GRCh38	Gain	TYMP KLHDC7B MAPK8IP2 ODF3B NCAPH2 SYCE3 LMF2 CPT1B SCO2 CHKB-AS1 CHKB-CPT1B CHKB
nsv834239	Chr.22:50485317 - 50630215 on Build GRCh38	Loss	KLHDC7B ADM2 MAPK8IP2 ODF3B SYCE3 ARSA SCO2 CHKB-AS1 CHKB-CPT1B MIOX CHKB TYMP NCAPH2 LMF2 CPT1B
nsv955202	Chr.22:50544472 - 50582171 on Build GRCh38	Deletion	KLHDC7B SYCE3 CPT1B CHKB-CPT1B CHKB
nsv589223	Chr.22:50539595 - 50619495 on Build GRCh38	Loss	KLHDC7B MAPK8IP2 SYCE3 CPT1B CHKB-AS1 CHKB-CPT1B CHKB
nsv589222	Chr.22:50491152 - 50589773 on Build GRCh38	Gain	TYMP KLHDC7B ODF3B NCAPH2 SYCE3 LMF2 CPT1B SCO2 CHKB-AS1 CHKB-CPT1B CHKB

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

kinase, acyltransferase

Gene Ontology Categories:

Process(es)

phosphatidylethanolamine biosynthetic process
phosphatidylcholine biosynthetic process
CDP-choline pathway
phosphorylation

Function(s)

choline kinase activity
ethanolamine kinase activity
ATP binding