Hs03615410_cn

• Gene Symbol: BCKDHB
• Assay Reference Genome Location: Chr.6:80110079 on build GRCh38
• Cytoband: 6q14.1

Target Gene Details

• Entrez Gene ID: 594
• Gene Name: branched chain keto acid dehydrogenase E1 subunit beta
• Gene Aliases: BCKDE1B, BCKDH E1-beta, E1B
• Location: Chr.6:80106610-80469088 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BCKDHB	NM_000056.4			NP_000047.1
	NM_001318975.1			NP_001305904.1
	NM_183050.3			NP_898871.1
	NR_134945.1
	XM_005248756.4			XP_005248813.1
	XM_011536023.2			XP_011534325.1
	XM_011536024.2			XP_011534326.1
	XM_011536025.2			XP_011534327.1
	AK289977.1
	AK304353.1
	AK316545.1
	BC040139.2			AAH40139.1
	BT020063.1			AAV38866.1
	DC372349.1
	DC422376.1
	M55575.1			AAA51812.1
	U50708.1			AAB16763.1
	X52446.1			CAA36685.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv5371	Chr.6:80082685 - 80116423 on Build GRCh38	Insertion	BCKDHB
esv3890895	Chr.6:80076658 - 80233186 on Build GRCh38	Loss	BCKDHB

More Information

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

Panther Classification:

Molecular Function -

dehydrogenase

Gene Ontology Categories:

Process(es)

branched-chain amino acid catabolic process
glyoxylate metabolic process
oxidation-reduction process

Function(s)

alpha-ketoacid dehydrogenase activity
3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity
protein binding
carboxy-lyase activity