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	SHARPIN MAF1 GPAA1 HGH1 EXOSC4 CYC1 MROH1 WDR97 MIR6847
nsv470249	Chr.8:143889098 - 144519234 on Build GRCh38	Loss	SLC39A4 MIR1234 BOP1 OPLAH KIFC2 HSF1 TONSL FBXL6 SMPD5 ADCK5 PLEC DGAT1 TMEM249 PARP10 MIR6847 CPSF1 SHARPIN MIR6893 SLC52A2 GPAA1 LOC101928953 TONSL-AS1 EXOSC4 WDR97 SCRT1 LOC101928902 MAF1 RECQL4 GRINA CYHR1 PPP1R16A MIR6846 SCX MIR7112 MIR6849 MROH1 MIR661 MIR939 VPS28 GPT SPATC1 MFSD3 HGH1 FOXH1 CYC1 MIR6848 LRRC14
nsv612914	Chr.8:143972494 - 144120626 on Build GRCh38	Loss	OPLAH MAF1 GRINA MIR6846 SMPD5 PLEC PARP10 MIR6847 SHARPIN GPAA1 SPATC1 EXOSC4 CYC1 WDR97
nsv950015	Chr.8:143866633 - 144125597 on Build GRCh38	Deletion	EPPK1 OPLAH MAF1 GRINA MIR6846 SMPD5 PLEC PARP10 MIR6847 MIR661 SHARPIN GPAA1 SPATC1 EXOSC4 CYC1 WDR97
nsv1161815	Chr.8:143775169 - 144080674 on Build GRCh38	Deletion	EPPK1 LOC642574 OPLAH MIR6845 GRINA MIR6846 SMPD5 PLEC PARP10 MIR6847 MIR661 NRBP2 PUF60 MIR937 SPATC1 EXOSC4 SCRIB
nsv1025071	Chr.8:144044224 - 144300847 on Build GRCh38	Gain	BOP1 OPLAH MAF1 HSF1 MIR6846 SCX MIR7112 SMPD5 MROH1 MIR6847 SHARPIN GPAA1 SPATC1 HGH1 EXOSC4 CYC1 WDR97
esv29971	Chr.8:144068526 - 144172197 on Build GRCh38	Loss	SHARPIN MAF1 GPAA1 HGH1 EXOSC4 CYC1 MROH1 WDR97 MIR6847
nsv466014	Chr.8:144007080 - 144224185 on Build GRCh38	Loss	OPLAH MAF1 MIR6846 SMPD5 MROH1 MIR6847 SHARPIN GPAA1 SPATC1 HGH1 EXOSC4 CYC1 WDR97
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	SLC39A4 MIR1234 BOP1 OPLAH KIFC2 HSF1 TONSL FBXL6 SMPD5 ADCK5 PLEC DGAT1 TMEM249 PARP10 MIR6847 CPSF1 SHARPIN MIR6893 SLC52A2 GPAA1 LOC101928953 TONSL-AS1 EXOSC4 WDR97 SCRT1 LOC101928902 MAF1 RECQL4 GRINA CYHR1 PPP1R16A MIR6846 SCX MIR7112 MIR6849 MROH1 MIR661 MIR939 VPS28 GPT SPATC1 MFSD3 HGH1 FOXH1 CYC1 MIR6848 LRRC14
nsv6447	Chr.8:144064665 - 144087389 on Build GRCh38	Insertion	GPAA1 EXOSC4 MIR6847
dgv906n27	Chr.8:143845100 - 144161320 on Build GRCh38	Loss	EPPK1 OPLAH MAF1 GRINA MIR6846 SMPD5 PLEC MROH1 PARP10 MIR6847 MIR661 SHARPIN GPAA1 SPATC1 HGH1 EXOSC4 CYC1 WDR97
dgv12433n54	Chr.8:143902404 - 144120626 on Build GRCh38	Gain	OPLAH MAF1 GRINA MIR6846 SMPD5 PLEC PARP10 MIR6847 MIR661 SHARPIN GPAA1 SPATC1 EXOSC4 CYC1 WDR97
nsv470250	Chr.8:143917934 - 144097007 on Build GRCh38	Gain	MIR661 OPLAH GPAA1 SPATC1 GRINA MIR6846 EXOSC4 SMPD5 CYC1 PLEC PARP10 MIR6847
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	SLC39A4 MIR1234 BOP1 C8orf82 OPLAH KIFC2 HSF1 TONSL FBXL6 SMPD5 ADCK5 DGAT1 TMEM249 MIR6847 CPSF1 SHARPIN MIR6893 SLC52A2 GPAA1 LOC101928953 TONSL-AS1 EXOSC4 LRRC24 WDR97 SCRT1 LOC101928902 MAF1 RECQL4 CYHR1 PPP1R16A MIR6846 SCX MIR7112 MIR6849 MROH1 MIR939 VPS28 GPT SPATC1 MFSD3 HGH1 FOXH1 ARHGAP39 CYC1 MIR6848 LRRC14 ZNF251
nsv612907	Chr.8:143917935 - 144097007 on Build GRCh38	Gain+Loss	MIR661 OPLAH GPAA1 SPATC1 GRINA MIR6846 EXOSC4 SMPD5 CYC1 PLEC PARP10 MIR6847

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