Hs02503417_cn

• Gene Symbol: DBT
• Assay Reference Genome Location: Chr.1:100191424 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 Exon 13

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DBT	NM_001918.3	11	6313	NP_001909.3

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	DBT SASS6 LRRC39 MFSD14A TRMT13

More Information

• Set Membership: Intragenic, 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