Hs05396535_cn

• Gene Symbol: NOL3
• Assay Reference Genome Location: Chr.16:67174575 on build GRCh38
• Cytoband: 16q22.1

Target Gene Details

• Entrez Gene ID: 8996
• Gene Name: nucleolar protein 3
• Gene Aliases: ARC, FCM, MYP, NOP, NOP30
• Location: Chr.16:67170497-67175737 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NOL3	NM_001185057.2			NP_001171986.1
	NM_001276307.1			NP_001263236.1
	NM_001276309.1			NP_001263238.1
	NM_001276311.1			NP_001263240.1
	NM_001276312.1			NP_001263241.1
	NM_001276319.1			NP_001263248.1
	NM_003946.6			NP_003937.1
	XM_005256217.2			XP_005256274.1
	XM_005256219.3			XP_005256276.1
	XM_011523424.2			XP_011521726.1
	XM_017023843.1			XP_016879332.1
	AF043244.1			AAC34993.1
	AF064599.1			AAC18593.1
	AF064600.1			AAC18594.1
	AK294145.1
	AK314899.1
	BC012798.2			AAH12798.1
	BP215200.1
	BQ685512.1
	BT020158.1			AAV38960.1
	CB959673.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv522852	Chr.16:67153308 - 68071571 on Build GRCh38	Gain	SLC9A5 CENPT ENKD1 FHOD1 LRRC29 DPEP2 SLC12A4 MIR328 LOC105369155 PARD6A EXOC3L1 ATP6V0D1 NRN1L DPEP3 ACD LRRC36 PSMB10 DUS2 THAP11 KCTD19 CTRL E2F4 TPPP3 NUTF2 TSNAXIP1 KIAA0895L LOC100131303 PLEKHG4 EDC4 PSKH1 CARMIL2 C16orf86 LOC100505942 FBXL8 LOC107984813 ZDHHC1 NOL3 DDX28 HSD11B2 GFOD2 AGRP CTCF TRADD LCAT ELMO3 FAM65A HSF4 RANBP10 TMEM208
nsv827707	Chr.16:67148355 - 67289296 on Build GRCh38	Loss	SLC9A5 FHOD1 LRRC29 E2F4 C16orf70 MIR328 TRADD LOC105369155 EXOC3L1 ELMO3 FBXL8 KIAA0895L HSF4 B3GNT9 PLEKHG4 NOL3 TMEM208
nsv952044	Chr.16:67141198 - 67244397 on Build GRCh38	Deletion	FHOD1 LRRC29 E2F4 C16orf70 MIR328 TRADD LOC105369155 EXOC3L1 ELMO3 FBXL8 KIAA0895L HSF4 B3GNT9 NOL3 TMEM208
nsv1160429	Chr.16:67161549 - 67220197 on Build GRCh38	Deletion	EXOC3L1 ELMO3 FBXL8 KIAA0895L LRRC29 HSF4 E2F4 MIR328 NOL3 LOC105369155
nsv524492	Chr.16:67174030 - 67294550 on Build GRCh38	Loss	SLC9A5 FHOD1 LRRC29 KCTD19 E2F4 MIR328 LOC105369155 EXOC3L1 ELMO3 KIAA0895L PLEKHG4 NOL3 TMEM208
nsv524363	Chr.16:67136529 - 68071571 on Build GRCh38	Loss	SLC9A5 CENPT ENKD1 FHOD1 LRRC29 DPEP2 C16orf70 SLC12A4 MIR328 LOC105369155 PARD6A EXOC3L1 ATP6V0D1 NRN1L DPEP3 ACD LRRC36 PSMB10 DUS2 THAP11 KCTD19 CTRL E2F4 TPPP3 NUTF2 TSNAXIP1 KIAA0895L LOC100131303 PLEKHG4 EDC4 PSKH1 CARMIL2 C16orf86 LOC100505942 FBXL8 LOC107984813 B3GNT9 ZDHHC1 NOL3 DDX28 HSD11B2 GFOD2 AGRP CTCF TRADD LCAT ELMO3 FAM65A HSF4 RANBP10 TMEM208

More Information

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

Gene Ontology Categories:

Process(es)

response to hypoxia
blood vessel remodeling
response to ischemia
mRNA splice site selection
RNA splicing
cardiac muscle cell apoptotic process
negative regulation of cardiac muscle cell apoptotic process
negative regulation of tumor necrosis factor-mediated signaling pathway
negative regulation of muscle atrophy
release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
response to injury involved in regulation of muscle adaptation
regulation of NF-kappaB import into nucleus
negative regulation of apoptotic process
protein oligomerization
negative regulation of necrotic cell death
negative regulation of release of cytochrome c from mitochondria
intrinsic apoptotic signaling pathway
negative regulation of mitochondrial membrane permeability involved in apoptotic process
negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway
inhibition of cysteine-type endopeptidase activity involved in apoptotic process
negative regulation of extrinsic apoptotic signaling pathway

Function(s)

RNA binding
death receptor binding
calcium ion binding
protein binding
death effector domain binding
identical protein binding
cysteine-type endopeptidase inhibitor activity involved in apoptotic process
caspase binding