Hs03821354_cn

• Gene Symbol: BCAT1
• Assay Reference Genome Location: Chr.12:24818752 on build GRCh38
• Cytoband: 12p12.1

Target Gene Details

• Entrez Gene ID: 586
• Gene Name: branched chain amino acid transaminase 1
• Gene Aliases: BCATC, BCT1, ECA39, MECA39, PNAS121, PP18
• Location: Chr.12:24810024-24949459 on Build GRCh38
• Assay Gene Location: Within Intron 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BCAT1	NM_001178091.1			NP_001171562.1
	NM_001178092.1			NP_001171563.1
	NM_001178093.1			NP_001171564.1
	NM_001178094.1			NP_001171565.1
	NM_005504.6			NP_005495.2
	XM_017019768.1			XP_016875257.1
	AK056255.1			BAB71129.1
	AK128527.1
	AK294879.1
	AK299088.1
	BX474651.1
	BX647122.1
	CR749308.1			CAH18163.1
	U21551.1			AAB08528.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2422312	Chr.12:24366458 - 25068752 on Build GRCh38	Duplication	LRMP C12orf77 LOC645177 LINC00477 SOX5 BCAT1
nsv469173	Chr.12:24738241 - 25054719 on Build GRCh38	Gain	LRMP C12orf77 LOC645177 BCAT1
nsv469169	Chr.12:24539449 - 25204746 on Build GRCh38	Gain	LYRM5 LRMP C12orf77 LOC645177 LINC00477 SOX5 BCAT1 CASC1

More Information

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

Panther Classification:

Molecular Function -

transaminase, transferase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

G1/S transition of mitotic cell cycle
aspartate biosynthetic process
cell proliferation
branched-chain amino acid biosynthetic process
branched-chain amino acid catabolic process
leucine biosynthetic process
valine biosynthetic process

Function(s)

branched-chain-amino-acid transaminase activity
pyridoxal phosphate binding
identical protein binding
L-leucine transaminase activity
L-valine transaminase activity
L-isoleucine transaminase activity