Hs01741692_cn

• Gene Symbol: CHKB-CPT1B
• Assay Reference Genome Location: Chr.22:50578573 on build GRCh38
• Cytoband: 22q13.33

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: Within Intron 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CHKB-CPT1B	NR_027928.2
	AB051457.1			BAB33340.1
	AK301477.1
	BC131570.1

Target Gene Details

• Entrez Gene ID: 1375
• Gene Name: carnitine palmitoyltransferase 1B
• Gene Aliases: CPT1-M, CPT1M, CPTI, CPTI-M, M-CPT1, MCCPT1, MCPT1
• Location: Chr.22:50568861-50578667 on Build GRCh38
• Assay Gene Location: Overlaps Intron 1 - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CPT1B	NM_001145134.1			NP_001138606.1
	NM_001145135.1			NP_001138607.1
	NM_152245.2			NP_689451.1
	AK223174.1			BAD96894.1
	AK297866.1
	AK299395.1
	DC373481.1
	U66828.1			AAB40651.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2758852	Chr.22:50491090 - 50578979 on Build GRCh38	Loss	ODF3B KLHDC7B NCAPH2 CHKB-CPT1B SCO2 TYMP CPT1B CHKB SYCE3 LMF2
nsv1059234	Chr.22:50560544 - 50617472 on Build GRCh38	Gain	CHKB-AS1 CHKB-CPT1B MAPK8IP2 CPT1B CHKB SYCE3
nsv1057656	Chr.22:50478783 - 50595520 on Build GRCh38	Gain	TYMP CPT1B SYCE3 LMF2 ODF3B KLHDC7B MIOX CHKB-AS1 NCAPH2 CHKB-CPT1B SCO2 CHKB ADM2
nsv471224	Chr.22:50435189 - 50580482 on Build GRCh38	Loss	PPP6R2 TYMP CPT1B SBF1 SYCE3 LMF2 ODF3B KLHDC7B MIOX NCAPH2 CHKB-CPT1B SCO2 CHKB ADM2
nsv829340	Chr.22:50505720 - 50603696 on Build GRCh38	Gain	ODF3B KLHDC7B CHKB-AS1 NCAPH2 CHKB-CPT1B MAPK8IP2 SCO2 TYMP CPT1B CHKB SYCE3 LMF2
nsv834239	Chr.22:50485317 - 50630215 on Build GRCh38	Loss	ARSA TYMP CPT1B SYCE3 LMF2 ODF3B KLHDC7B MIOX CHKB-AS1 NCAPH2 CHKB-CPT1B MAPK8IP2 SCO2 CHKB ADM2
nsv955202	Chr.22:50544472 - 50582171 on Build GRCh38	Deletion	KLHDC7B CHKB-CPT1B CPT1B CHKB SYCE3
nsv589223	Chr.22:50539595 - 50619495 on Build GRCh38	Loss	KLHDC7B CHKB-AS1 CHKB-CPT1B MAPK8IP2 CPT1B CHKB SYCE3
nsv589222	Chr.22:50491152 - 50589773 on Build GRCh38	Gain	ODF3B KLHDC7B CHKB-AS1 NCAPH2 CHKB-CPT1B SCO2 TYMP CPT1B CHKB SYCE3 LMF2

More Information

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

Panther Classification:

Molecular Function -

acyltransferase

Gene Ontology Categories:

Process(es)

fatty acid beta-oxidation
carnitine shuttle

Function(s)

carnitine O-palmitoyltransferase activity
protein binding