Hs01321561_cn

• Gene Symbol: BBOX1
• Assay Reference Genome Location: Chr.11:27055414 on build GRCh38
• Cytoband: 11p14.2

Target Gene Details

• Entrez Gene ID: 8424
• Gene Name: gamma-butyrobetaine hydroxylase 1
• Gene Aliases: BBH, BBOX, G-BBH, gamma-BBH
• Location: Chr.11:27040705-27127807 on Build GRCh38
• Assay Gene Location: Overlaps Intron 4 - Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BBOX1	NM_003986.2			NP_003977.1
	XM_005253159.2			XP_005253216.1
	XM_005253160.2			XP_005253217.1
	XM_005253161.2			XP_005253218.1
	XM_011520402.1			XP_011518704.1
	XM_017018403.1			XP_016873892.1
	AF082868.1			AAC64066.1
	AK290108.1
	AK313422.1
	BC011034.1			AAH11034.1
	CR456812.1			CAG33093.1
	DA268467.1
	DQ471856.1
	DQ471857.1
	DQ471858.1	1	115
	DQ471859.1	1	80
	DQ471860.1	1	67
	DQ471861.1	1	60
	DQ471862.1	1	45
	DQ471863.1
	DQ471864.1	1	118
	DQ471865.1	1	118
	DQ471866.1	1	45
	DQ471867.1	1	42
	DQ471868.1

Target Gene Details

• Entrez Gene ID: 103695435
• Gene Name: BBOX1 antisense RNA 1
• Gene Aliases: -
• Location: Chr.11:27047186-27220113 on Build GRCh38
• Assay Gene Location: Within Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BBOX1-AS1	NR_125768.1
	DA865512.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv1727n54	Chr.11:26992485 - 27219404 on Build GRCh38	Gain	BBOX1 BBOX1-AS1 FIBIN
esv3625759	Chr.11:26962165 - 27229739 on Build GRCh38	Gain	BBOX1 BBOX1-AS1 FIBIN
nsv7720	Chr.11:27050452 - 27059150 on Build GRCh38	Deletion	BBOX1 BBOX1-AS1
nsv508619	Chr.11:27006947 - 27089187 on Build GRCh38	Deletion	BBOX1 BBOX1-AS1
esv3625760	Chr.11:26964078 - 27108838 on Build GRCh38	Gain	BBOX1 BBOX1-AS1 FIBIN

More Information

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

Panther Classification:

Molecular Function -

hydroxylase

Gene Ontology Categories:

Process(es)

carnitine biosynthetic process
oxidation-reduction process

Function(s)

iron ion binding
protein binding
zinc ion binding
gamma-butyrobetaine dioxygenase activity