Hs02660823_cn

• Gene Symbol: EXOSC4
• Assay Reference Genome Location: Chr.8:144078828 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 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EXOSC4	NM_019037.2	1	210	NP_061910.1
	XM_011517134.2			XP_011515436.1
	AF281133.1	1	203	AAF82134.1
	AK000598.1	1	127	BAA91279.1
	BC002777.2	1	124	AAH02777.1
	BM839994.1	1	210

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