Hs01349258_cn

• Gene Symbol: ACACA
• Assay Reference Genome Location: Chr.17:37379254 on build GRCh38
• Cytoband: 17q12

Target Gene Details

• Entrez Gene ID: 31
• Gene Name: acetyl-CoA carboxylase alpha
• Gene Aliases: ACAC, ACACAD, ACC, ACC1, ACCA
• Location: Chr.17:37084992-37406822 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ACACA	NM_198834.2			NP_942131.1
	NM_198839.2			NP_942136.1
	XM_006721853.1			XP_006721916.1
	XM_011524701.1			XP_011523003.1
	XM_017024553.1			XP_016880042.1
	XM_017024554.1			XP_016880043.1
	AK308905.1
	AY315623.1			AAP94118.1
	AY315625.1			AAP94120.1
	AY315626.1			AAP94121.1
	BC137287.1
	BF154865.1
	CF454424.1

Target Gene Details

• Entrez Gene ID: 284099
• Gene Name: chromosome 17 open reading frame 78
• Gene Aliases: -
• Location: Chr.17:37375710-37392708 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
C17orf78	NM_001321399.1	3	370	NP_001308328.1
	NM_173625.4	3	370	NP_775896.3
	XM_011524647.2	2	559	XP_011522949.1
	XM_011524648.2	3	644	XP_011522950.1
	XM_011524649.2	3	644	XP_011522951.1
	AK096966.1	3	371	BAC04914.1
	BC034672.1	3	313	AAH34672.1
	EG328593.1	2	173

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv32692	Chr.17:37378162 - 37398642 on Build GRCh38	Loss	ACACA C17orf78
esv3640487	Chr.17:37198366 - 37397715 on Build GRCh38	Gain	SNORA90 ACACA C17orf78
dgv3157n100	Chr.17:37219334 - 37462210 on Build GRCh38	Gain	SNORA90 ACACA C17orf78 TADA2A
esv2758687	Chr.17:37211817 - 37414232 on Build GRCh38	Gain	SNORA90 ACACA C17orf78 TADA2A

More Information

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

Gene Ontology Categories:

Process(es)

tissue homeostasis
acetyl-CoA metabolic process
fatty acid biosynthetic process
biotin metabolic process
carnitine shuttle
positive regulation of cellular metabolic process
long-chain fatty-acyl-CoA biosynthetic process
multicellular organismal protein metabolic process
protein homotetramerization
lipid homeostasis
cellular response to prostaglandin E stimulus
malonyl-CoA biosynthetic process

Function(s)

acetyl-CoA carboxylase activity
biotin carboxylase activity
protein binding
ATP binding
metal ion binding