Hs04345209_cn

• Gene Symbol: EXOSC4
• Assay Reference Genome Location: Chr.8:144076732 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	HGH1 MROH1 MAF1 SHARPIN GPAA1 CYC1 EXOSC4 WDR97 MIR6847
nsv470249	Chr.8:143889098 - 144519234 on Build GRCh38	Loss	HGH1 MIR1234 SLC52A2 TMEM249 FBXL6 LOC101928902 VPS28 FOXH1 MIR6847 RECQL4 HSF1 ADCK5 CYHR1 CPSF1 SCX OPLAH PARP10 MFSD3 TONSL GPT MIR6846 MIR6848 SPATC1 MAF1 TONSL-AS1 KIFC2 DGAT1 PLEC MIR6849 EXOSC4 SCRT1 WDR97 LOC101928953 SLC39A4 BOP1 GRINA MIR7112 SMPD5 MIR661 MROH1 SHARPIN GPAA1 CYC1 MIR939 PPP1R16A LRRC14 MIR6893
nsv612914	Chr.8:143972494 - 144120626 on Build GRCh38	Loss	SPATC1 MAF1 PLEC EXOSC4 WDR97 GRINA MIR6847 SMPD5 SHARPIN GPAA1 CYC1 OPLAH PARP10 MIR6846
nsv950015	Chr.8:143866633 - 144125597 on Build GRCh38	Deletion	SPATC1 MAF1 PLEC EXOSC4 WDR97 GRINA MIR6847 SMPD5 MIR661 EPPK1 SHARPIN GPAA1 CYC1 OPLAH PARP10 MIR6846
nsv1161815	Chr.8:143775169 - 144080674 on Build GRCh38	Deletion	SCRIB SPATC1 PUF60 MIR6845 PLEC EXOSC4 GRINA NRBP2 MIR6847 SMPD5 MIR661 EPPK1 LOC642574 OPLAH MIR937 PARP10 MIR6846
nsv1025071	Chr.8:144044224 - 144300847 on Build GRCh38	Gain	HGH1 SPATC1 MAF1 EXOSC4 WDR97 BOP1 MIR7112 MIR6847 SMPD5 HSF1 MROH1 SHARPIN GPAA1 CYC1 SCX OPLAH MIR6846
esv29971	Chr.8:144068526 - 144172197 on Build GRCh38	Loss	HGH1 MROH1 MAF1 SHARPIN GPAA1 CYC1 EXOSC4 WDR97 MIR6847
nsv612915	Chr.8:144007080 - 144224185 on Build GRCh38	Loss	HGH1 SPATC1 MAF1 EXOSC4 WDR97 MIR6847 SMPD5 MROH1 SHARPIN GPAA1 CYC1 OPLAH MIR6846
nsv6447	Chr.8:144064665 - 144087389 on Build GRCh38	Insertion	GPAA1 EXOSC4 MIR6847
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	HGH1 MIR1234 SLC52A2 TMEM249 FBXL6 LOC101928902 VPS28 FOXH1 MIR6847 RECQL4 HSF1 ADCK5 CYHR1 CPSF1 SCX OPLAH PARP10 MFSD3 TONSL GPT MIR6846 MIR6848 SPATC1 MAF1 TONSL-AS1 KIFC2 DGAT1 PLEC MIR6849 EXOSC4 SCRT1 WDR97 LOC101928953 SLC39A4 BOP1 GRINA MIR7112 SMPD5 MIR661 MROH1 SHARPIN GPAA1 CYC1 MIR939 PPP1R16A LRRC14 MIR6893
dgv12431n54	Chr.8:143845100 - 144161320 on Build GRCh38	Loss	HGH1 SPATC1 MAF1 PLEC EXOSC4 WDR97 GRINA MIR6847 SMPD5 MIR661 EPPK1 MROH1 SHARPIN GPAA1 CYC1 OPLAH PARP10 MIR6846
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	HGH1 MIR1234 SLC52A2 TMEM249 FBXL6 LOC101928902 VPS28 FOXH1 MIR6847 RECQL4 HSF1 ADCK5 CYHR1 CPSF1 SCX OPLAH MFSD3 TONSL GPT MIR6846 MIR6848 SPATC1 MAF1 TONSL-AS1 KIFC2 DGAT1 C8orf82 ZNF251 MIR6849 EXOSC4 SCRT1 WDR97 LOC101928953 SLC39A4 BOP1 LRRC24 MIR7112 SMPD5 MROH1 SHARPIN GPAA1 CYC1 MIR939 PPP1R16A LRRC14 MIR6893 ARHGAP39
nsv470250	Chr.8:143917934 - 144097007 on Build GRCh38	Gain	MIR661 SPATC1 GPAA1 CYC1 PLEC OPLAH EXOSC4 PARP10 MIR6846 GRINA MIR6847 SMPD5
dgv12433n54	Chr.8:143902404 - 144120626 on Build GRCh38	Gain	SPATC1 MAF1 PLEC EXOSC4 WDR97 GRINA MIR6847 SMPD5 MIR661 SHARPIN GPAA1 CYC1 OPLAH PARP10 MIR6846
nsv612906	Chr.8:143917935 - 144090784 on Build GRCh38	Loss	MIR661 SPATC1 GPAA1 PLEC OPLAH EXOSC4 PARP10 MIR6846 GRINA MIR6847 SMPD5

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