Hs02378685_cn

• Gene Symbol: NOL3
• Assay Reference Genome Location: Chr.16:67174249 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 Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NOL3	NM_001185057.2	2	282	NP_001171986.1
	NM_001276307.1	4	306	NP_001263236.1
	NM_001276309.1	2	166	NP_001263238.1
	NM_001276311.1	2	282	NP_001263240.1
	NM_001276312.1	4	657	NP_001263241.1
	NM_001276319.1	4	657	NP_001263248.1
	NM_003946.6	2	282	NP_003937.1
	XM_005256217.2	2	919	XP_005256274.1
	XM_005256219.3	2	919	XP_005256276.1
	XM_011523424.2	3	762	XP_011521726.1
	XM_017023843.1	2	919	XP_016879332.1
	AF043244.1	2	199	AAC34993.1
	AF064599.1	2	133	AAC18593.1
	AF064600.1	2	157	AAC18594.1
	AK294145.1	4	622
	AK314899.1	2	187
	BC012798.2	2	168	AAH12798.1
	BP215200.1	2	123
	BQ685512.1	2	282
	BT020158.1	1	80	AAV38960.1
	CB959673.1	4	333

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	PSKH1 DPEP2 EXOC3L1 DUS2 DPEP3 FBXL8 CTRL NOL3 MIR328 ZDHHC1 TMEM208 ELMO3 LOC107984813 THAP11 LRRC29 PARD6A FAM65A LRRC36 LOC100505942 FHOD1 KCTD19 LCAT PLEKHG4 DDX28 PSMB10 ATP6V0D1 HSF4 SLC9A5 C16orf86 KIAA0895L AGRP HSD11B2 EDC4 TPPP3 LOC105369155 ACD TSNAXIP1 CTCF NRN1L SLC12A4 TRADD LOC100131303 RANBP10 CENPT NUTF2 GFOD2 ENKD1 E2F4 CARMIL2
nsv952044	Chr.16:67141198 - 67244397 on Build GRCh38	Deletion	TMEM208 C16orf70 HSF4 B3GNT9 ELMO3 LRRC29 EXOC3L1 KIAA0895L TRADD FHOD1 LOC105369155 FBXL8 E2F4 NOL3 MIR328
nsv827707	Chr.16:67148355 - 67289296 on Build GRCh38	Loss	TMEM208 C16orf70 HSF4 SLC9A5 B3GNT9 ELMO3 LRRC29 EXOC3L1 KIAA0895L TRADD FHOD1 LOC105369155 FBXL8 PLEKHG4 E2F4 NOL3 MIR328
nsv1160429	Chr.16:67161549 - 67220197 on Build GRCh38	Deletion	HSF4 LOC105369155 FBXL8 ELMO3 E2F4 LRRC29 EXOC3L1 KIAA0895L NOL3 MIR328
nsv524363	Chr.16:67136529 - 68071571 on Build GRCh38	Loss	PSKH1 DPEP2 EXOC3L1 DUS2 DPEP3 FBXL8 CTRL NOL3 MIR328 ZDHHC1 TMEM208 B3GNT9 ELMO3 LOC107984813 THAP11 LRRC29 PARD6A FAM65A LRRC36 LOC100505942 FHOD1 KCTD19 LCAT PLEKHG4 DDX28 PSMB10 ATP6V0D1 HSF4 SLC9A5 C16orf86 KIAA0895L AGRP HSD11B2 EDC4 TPPP3 LOC105369155 ACD TSNAXIP1 C16orf70 CTCF NRN1L SLC12A4 TRADD LOC100131303 RANBP10 CENPT NUTF2 GFOD2 ENKD1 E2F4 CARMIL2
nsv471092	Chr.16:67174030 - 67518392 on Build GRCh38	Gain	TMEM208 SLC9A5 ELMO3 LRRC29 EXOC3L1 KIAA0895L LRRC36 AGRP LOC100505942 HSD11B2 FHOD1 TPPP3 KCTD19 LOC105369155 PLEKHG4 E2F4 NOL3 ATP6V0D1 MIR328 ZDHHC1

More Information

• Set Membership: Intragenic, 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