Hs02635503_cn

• Gene Symbol: BCAT1
• Assay Reference Genome Location: Chr.12:24814689 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 Exon 13

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BCAT1	NM_001178091.1	10	4896	NP_001171562.1
	NM_001178092.1	9	4824	NP_001171563.1
	NM_001178093.1	11	4603	NP_001171564.1
	NM_001178094.1	11	4900	NP_001171565.1
	NM_005504.6	11	5007	NP_005495.2
	XM_017019768.1	10	4615	XP_016875257.1
	AK025615.1
	BM458559.1	1	589

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv557794	Chr.12:24811449 - 24817774 on Build GRCh38	Gain	BCAT1
esv2422312	Chr.12:24366458 - 25068752 on Build GRCh38	Duplication	C12orf77 BCAT1 LINC00477 LOC645177 SOX5 LRMP
nsv469173	Chr.12:24738241 - 25054719 on Build GRCh38	Gain	C12orf77 BCAT1 LOC645177 LRMP
nsv469169	Chr.12:24539449 - 25204746 on Build GRCh38	Gain	C12orf77 CASC1 BCAT1 LINC00477 LOC645177 LYRM5 SOX5 LRMP

More Information

• Set Membership: Intragenic, 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