Hs03697182_cn

• Gene Symbol: EXOSC4
• Assay Reference Genome Location: Chr.8:144077359 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 Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EXOSC4	XM_011517134.2			XP_011515436.1

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

More Information

• Set Membership: Intragenic, Intronic, Non-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