Hs06349795_cn

• Gene Symbol: SIRT4
• Assay Reference Genome Location: Chr.12:120302389 on build GRCh38
• Cytoband: 12q24.31

Target Gene Details

• Entrez Gene ID: 23409
• Gene Name: sirtuin 4
• Gene Aliases: SIR2L4
• Location: Chr.12:120292199-120313242 on Build GRCh38
• Assay Gene Location: Overlaps Exon 3 - Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SIRT4	NM_012240.2			NP_036372.1
	XM_005253865.4			XP_005253922.1
	XM_006719308.2			XP_006719371.1
	XM_006719309.3			XP_006719372.1
	AF083109.1			AAD40852.1
	BC109319.3			AAI09320.1
	BC109320.3			AAI09321.1
	BP232525.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2763006	Chr.12:120293543 - 120312943 on Build GRCh38	Loss	SIRT4
nsv832530	Chr.12:120148265 - 120320372 on Build GRCh38	Loss	MIR4498 SIRT4 PXN-AS1 RNU4-1 RNU4-2 NME2P1 RPLP0 GCN1 PXN
nsv560435	Chr.12:120257338 - 120331854 on Build GRCh38	Loss	SIRT4 PLA2G1B RNU4-1 RNU4-2 NME2P1 PXN

More Information

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

Gene Ontology Categories:

Process(es)

regulation of glutamine family amino acid metabolic process
chromatin silencing
protein ADP-ribosylation
glutamine metabolic process
cellular response to DNA damage stimulus
negative regulation of cardiac muscle cell apoptotic process
peptidyl-lysine deacetylation
negative regulation of fatty acid oxidation
negative regulation of insulin secretion
positive regulation of lipid biosynthetic process
cellular response to hypoxia
tricarboxylic acid metabolic process
negative regulation of protein processing involved in protein targeting to mitochondrion
regulation of pyruvate dehydrogenase activity

Function(s)

NAD+ ADP-ribosyltransferase activity
protein binding
zinc ion binding
NAD-dependent protein deacetylase activity
biotinidase activity
lipoamidase activity
NAD+ binding