Hs02877579_cn

• Gene Symbol: BCAT1
• Assay Reference Genome Location: Chr.12:24816413 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	3172	NP_001171562.1
	NM_001178092.1	9	3100	NP_001171563.1
	NM_001178093.1	11	2879	NP_001171564.1
	NM_001178094.1	11	3176	NP_001171565.1
	NM_005504.6	11	3283	NP_005495.2
	XM_017019768.1	10	2891	XP_016875257.1
	AK024923.1	1	1095
	AK128527.1	9	2727
	BX647122.1	11	2885
	CR749308.1	11	3085	CAH18163.1

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	LRMP LOC645177 BCAT1 C12orf77 SOX5 LINC00477
nsv469173	Chr.12:24738241 - 25054719 on Build GRCh38	Gain	LRMP LOC645177 BCAT1 C12orf77
nsv469169	Chr.12:24539449 - 25204746 on Build GRCh38	Gain	LRMP CASC1 LOC645177 BCAT1 C12orf77 SOX5 LYRM5 LINC00477

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