Hs03671721_cn

• Gene Symbol: EXOSC4
• Assay Reference Genome Location: Chr.8:144078219 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 EXOSC4 MROH1 WDR97 MIR6847 CYC1 HGH1 SHARPIN MAF1
nsv470249	Chr.8:143889098 - 144519234 on Build GRCh38	Loss	LOC101928953 SLC52A2 CYHR1 MIR6848 MIR6893 DGAT1 EXOSC4 LRRC14 MIR7112 HGH1 LOC101928902 SCRT1 SMPD5 FBXL6 SCX GPT TONSL-AS1 MIR6846 VPS28 WDR97 PARP10 MIR1234 TONSL HSF1 FOXH1 MIR6849 MROH1 GRINA RECQL4 TMEM249 BOP1 SHARPIN MAF1 OPLAH MFSD3 PPP1R16A MIR661 SLC39A4 SPATC1 CPSF1 KIFC2 GPAA1 MIR939 ADCK5 PLEC MIR6847 CYC1
nsv612914	Chr.8:143972494 - 144120626 on Build GRCh38	Loss	PARP10 EXOSC4 GRINA SHARPIN MAF1 OPLAH SMPD5 SPATC1 GPAA1 MIR6846 PLEC WDR97 MIR6847 CYC1
nsv950015	Chr.8:143866633 - 144125597 on Build GRCh38	Deletion	PARP10 EXOSC4 GRINA SHARPIN MAF1 OPLAH EPPK1 SMPD5 MIR661 SPATC1 GPAA1 MIR6846 PLEC WDR97 MIR6847 CYC1
nsv1161815	Chr.8:143775169 - 144080674 on Build GRCh38	Deletion	PARP10 PUF60 SCRIB EXOSC4 GRINA OPLAH EPPK1 SMPD5 LOC642574 MIR661 SPATC1 MIR937 NRBP2 MIR6846 PLEC MIR6847 MIR6845
nsv1025071	Chr.8:144044224 - 144300847 on Build GRCh38	Gain	HSF1 EXOSC4 MROH1 MIR7112 BOP1 HGH1 SHARPIN MAF1 OPLAH SMPD5 SPATC1 SCX GPAA1 MIR6846 WDR97 MIR6847 CYC1
esv29971	Chr.8:144068526 - 144172197 on Build GRCh38	Loss	GPAA1 EXOSC4 MROH1 WDR97 MIR6847 CYC1 HGH1 SHARPIN MAF1
nsv466014	Chr.8:144007080 - 144224185 on Build GRCh38	Loss	EXOSC4 MROH1 HGH1 SHARPIN MAF1 OPLAH SMPD5 SPATC1 GPAA1 MIR6846 WDR97 MIR6847 CYC1
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	LOC101928953 SLC52A2 CYHR1 MIR6848 MIR6893 DGAT1 EXOSC4 LRRC14 MIR7112 HGH1 LOC101928902 SCRT1 SMPD5 FBXL6 SCX GPT TONSL-AS1 MIR6846 VPS28 WDR97 PARP10 MIR1234 TONSL HSF1 FOXH1 MIR6849 MROH1 GRINA RECQL4 TMEM249 BOP1 SHARPIN MAF1 OPLAH MFSD3 PPP1R16A MIR661 SLC39A4 SPATC1 CPSF1 KIFC2 GPAA1 MIR939 ADCK5 PLEC MIR6847 CYC1
nsv6447	Chr.8:144064665 - 144087389 on Build GRCh38	Insertion	GPAA1 EXOSC4 MIR6847
dgv906n27	Chr.8:143845100 - 144161320 on Build GRCh38	Loss	PARP10 EXOSC4 MROH1 GRINA HGH1 SHARPIN MAF1 OPLAH EPPK1 SMPD5 MIR661 SPATC1 GPAA1 MIR6846 PLEC WDR97 MIR6847 CYC1
dgv12433n54	Chr.8:143902404 - 144120626 on Build GRCh38	Gain	PARP10 EXOSC4 GRINA SHARPIN MAF1 OPLAH SMPD5 MIR661 SPATC1 GPAA1 MIR6846 PLEC WDR97 MIR6847 CYC1
nsv470250	Chr.8:143917934 - 144097007 on Build GRCh38	Gain	OPLAH PARP10 SMPD5 MIR661 SPATC1 GPAA1 EXOSC4 MIR6846 GRINA PLEC MIR6847 CYC1
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	LOC101928953 SLC52A2 CYHR1 MIR6848 MIR6893 DGAT1 EXOSC4 LRRC14 MIR7112 HGH1 LOC101928902 SCRT1 SMPD5 FBXL6 LRRC24 SCX GPT TONSL-AS1 MIR6846 VPS28 WDR97 MIR1234 TONSL HSF1 FOXH1 MIR6849 MROH1 RECQL4 TMEM249 BOP1 SHARPIN MAF1 ZNF251 OPLAH MFSD3 PPP1R16A SLC39A4 ARHGAP39 SPATC1 CPSF1 KIFC2 GPAA1 MIR939 ADCK5 MIR6847 CYC1 C8orf82
nsv612907	Chr.8:143917935 - 144097007 on Build GRCh38	Gain+Loss	OPLAH PARP10 SMPD5 MIR661 SPATC1 GPAA1 EXOSC4 MIR6846 GRINA PLEC MIR6847 CYC1

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