Hs05789155_cn

• Gene Symbol: DBT
• Assay Reference Genome Location: Chr.1:100198824 on build GRCh38
• Cytoband: 1p21.2

Target Gene Details

• Entrez Gene ID: 1629
• Gene Name: dihydrolipoamide branched chain transacylase E2
• Gene Aliases: BCATE2, BCKAD-E2, BCKADE2, BCOADC-E2, E2, E2B
• Location: Chr.1:100186922-100249864 on Build GRCh38
• Assay Gene Location: Within Intron 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DBT	NM_001918.3			NP_001909.3
	XM_005270545.3			XP_005270602.1
	XM_017000468.1			XP_016855957.1
	XM_017000469.1			XP_016855958.1
	AK303941.1
	AK313191.1
	BC016675.1			AAH16675.1
	BT007372.1			AAP36036.1
	J03208.1			AAA35589.1
	M27093.1			AAA64512.1
	X66785.1			CAA47285.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv830804	Chr.1:100036777 - 100210481 on Build GRCh38	Gain	MFSD14A SASS6 LRRC39 TRMT13 DBT

More Information

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

Panther Classification:

Molecular Function -

acetyltransferase

Gene Ontology Categories:

Process(es)

branched-chain amino acid catabolic process
glyoxylate metabolic process

Function(s)

ubiquitin protein ligase binding
dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity