Hs00817093_cn

• Gene Symbol: EXOSC4
• Assay Reference Genome Location: Chr.8:144080011 on build GRCh38
• Cytoband: 8q24.3

Target Gene Details

• Entrez Gene ID: 54512
• Gene Name: exosome component 4
• Gene Aliases: RRP41, RRP41A, Rrp41p, SKI6, Ski6p, hRrp41p, p12A
• Location: Chr.8:144064092-144080648 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EXOSC4	NM_019037.2	2	350	NP_061910.1
	XM_011517134.2	2	208	XP_011515436.1
	AF281133.1	2	343	AAF82134.1
	AK000598.1	2	267	BAA91279.1
	BC002777.2	2	264	AAH02777.1
	BM839994.1	2	350

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2759651	Chr.8:144076281 - 144230741 on Build GRCh38	Gain	MIR6847 SHARPIN GPAA1 MAF1 WDR97 MROH1 HGH1 EXOSC4 CYC1
nsv470249	Chr.8:143889098 - 144519234 on Build GRCh38	Loss	PLEC MIR1234 MROH1 HGH1 HSF1 CYHR1 SPATC1 MIR6848 SMPD5 TONSL-AS1 ADCK5 MIR6847 FBXL6 GPT LOC101928953 KIFC2 DGAT1 MIR661 SCX FOXH1 MIR6849 BOP1 SCRT1 OPLAH LOC101928902 SHARPIN GPAA1 MAF1 MFSD3 CPSF1 PARP10 EXOSC4 SLC52A2 CYC1 MIR6846 MIR6893 TMEM249 MIR7112 SLC39A4 GRINA LRRC14 WDR97 MIR939 TONSL RECQL4 PPP1R16A VPS28
nsv612914	Chr.8:143972494 - 144120626 on Build GRCh38	Loss	OPLAH PLEC SHARPIN GPAA1 MAF1 PARP10 EXOSC4 CYC1 SPATC1 MIR6846 SMPD5 GRINA MIR6847 WDR97
nsv950015	Chr.8:143866633 - 144125597 on Build GRCh38	Deletion	OPLAH PLEC SHARPIN GPAA1 MAF1 PARP10 EXOSC4 CYC1 SPATC1 MIR6846 SMPD5 GRINA MIR6847 WDR97 MIR661 EPPK1
nsv1161815	Chr.8:143775169 - 144080674 on Build GRCh38	Deletion	OPLAH PLEC NRBP2 PARP10 EXOSC4 SPATC1 MIR6846 SMPD5 SCRIB GRINA MIR6847 MIR661 LOC642574 EPPK1 PUF60 MIR6845 MIR937
nsv1025071	Chr.8:144044224 - 144300847 on Build GRCh38	Gain	OPLAH SHARPIN GPAA1 MAF1 MROH1 HGH1 EXOSC4 HSF1 CYC1 SPATC1 MIR6846 SMPD5 MIR7112 MIR6847 WDR97 SCX BOP1
esv29971	Chr.8:144068526 - 144172197 on Build GRCh38	Loss	MIR6847 SHARPIN GPAA1 MAF1 WDR97 MROH1 HGH1 EXOSC4 CYC1
nsv612915	Chr.8:144007080 - 144224185 on Build GRCh38	Loss	OPLAH SHARPIN GPAA1 MAF1 MROH1 HGH1 EXOSC4 CYC1 SPATC1 MIR6846 SMPD5 MIR6847 WDR97
nsv6447	Chr.8:144064665 - 144087389 on Build GRCh38	Insertion	MIR6847 GPAA1 EXOSC4
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	PLEC MIR1234 MROH1 HGH1 HSF1 CYHR1 SPATC1 MIR6848 SMPD5 TONSL-AS1 ADCK5 MIR6847 FBXL6 GPT LOC101928953 KIFC2 DGAT1 MIR661 SCX FOXH1 MIR6849 BOP1 SCRT1 OPLAH LOC101928902 SHARPIN GPAA1 MAF1 MFSD3 CPSF1 PARP10 EXOSC4 SLC52A2 CYC1 MIR6846 MIR6893 TMEM249 MIR7112 SLC39A4 GRINA LRRC14 WDR97 MIR939 TONSL RECQL4 PPP1R16A VPS28
dgv12431n54	Chr.8:143845100 - 144161320 on Build GRCh38	Loss	OPLAH PLEC SHARPIN GPAA1 MAF1 MROH1 HGH1 PARP10 EXOSC4 CYC1 SPATC1 MIR6846 SMPD5 GRINA MIR6847 WDR97 MIR661 EPPK1
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	MIR1234 MROH1 HGH1 HSF1 CYHR1 SPATC1 MIR6848 LRRC24 SMPD5 ZNF251 TONSL-AS1 ADCK5 C8orf82 MIR6847 FBXL6 GPT LOC101928953 KIFC2 DGAT1 SCX FOXH1 MIR6849 BOP1 SCRT1 OPLAH LOC101928902 SHARPIN GPAA1 MAF1 MFSD3 CPSF1 EXOSC4 SLC52A2 CYC1 MIR6846 MIR6893 TMEM249 MIR7112 SLC39A4 LRRC14 WDR97 MIR939 TONSL ARHGAP39 RECQL4 PPP1R16A VPS28
nsv470250	Chr.8:143917934 - 144097007 on Build GRCh38	Gain	OPLAH PLEC GRINA MIR6847 GPAA1 PARP10 EXOSC4 MIR661 CYC1 SPATC1 MIR6846 SMPD5
dgv12433n54	Chr.8:143902404 - 144120626 on Build GRCh38	Gain	OPLAH PLEC SHARPIN GPAA1 MAF1 PARP10 EXOSC4 CYC1 SPATC1 MIR6846 SMPD5 GRINA MIR6847 WDR97 MIR661
nsv612906	Chr.8:143917935 - 144090784 on Build GRCh38	Loss	OPLAH PLEC GRINA MIR6847 GPAA1 PARP10 EXOSC4 MIR661 SPATC1 MIR6846 SMPD5

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

exoribonuclease

Gene Ontology Categories:

Process(es)

maturation of 5.8S rRNA
nuclear-transcribed mRNA catabolic process
rRNA processing
rRNA catabolic process
positive regulation of cell growth
rRNA 3'-end processing
nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5'
U4 snRNA 3'-end processing
regulation of mRNA stability
exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay
DNA deamination
defense response to virus
nuclear mRNA surveillance
histone mRNA catabolic process
polyadenylation-dependent snoRNA 3'-end processing
RNA phosphodiester bond hydrolysis, exonucleolytic

Function(s)

3'-5'-exoribonuclease activity
exoribonuclease activity
protein binding
AU-rich element binding