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

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