Hs03695384_cn

• Gene Symbol: EXOSC4
• Assay Reference Genome Location: Chr.8:144073500 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
nsv470249	Chr.8:143889098 - 144519234 on Build GRCh38	Loss	FOXH1 SLC39A4 MIR939 DGAT1 MIR1234 GRINA BOP1 MAF1 SCX MIR6893 SLC52A2 OPLAH RECQL4 CPSF1 MIR6846 CYC1 LOC101928902 LOC101928953 SHARPIN PLEC GPAA1 WDR97 PPP1R16A MFSD3 ADCK5 TONSL-AS1 KIFC2 EXOSC4 TONSL TMEM249 MIR6847 HGH1 MIR661 HSF1 PARP10 LRRC14 CYHR1 MIR6848 MIR7112 SCRT1 GPT MROH1 MIR6849 FBXL6 VPS28 SPATC1 SMPD5
nsv612914	Chr.8:143972494 - 144120626 on Build GRCh38	Loss	SHARPIN PLEC GPAA1 WDR97 GRINA EXOSC4 MAF1 MIR6847 PARP10 OPLAH MIR6846 CYC1 SPATC1 SMPD5
nsv950015	Chr.8:143866633 - 144125597 on Build GRCh38	Deletion	SHARPIN PLEC GPAA1 WDR97 GRINA EXOSC4 EPPK1 MAF1 MIR6847 MIR661 PARP10 OPLAH MIR6846 CYC1 SPATC1 SMPD5
nsv1161815	Chr.8:143775169 - 144080674 on Build GRCh38	Deletion	PLEC MIR937 GRINA EXOSC4 PUF60 EPPK1 SCRIB MIR6847 MIR6845 MIR661 NRBP2 LOC642574 PARP10 OPLAH MIR6846 SPATC1 SMPD5
nsv1025071	Chr.8:144044224 - 144300847 on Build GRCh38	Gain	SHARPIN GPAA1 WDR97 EXOSC4 BOP1 MAF1 MIR6847 HGH1 SCX HSF1 MIR7112 OPLAH MROH1 MIR6846 CYC1 SPATC1 SMPD5
esv29971	Chr.8:144068526 - 144172197 on Build GRCh38	Loss	SHARPIN GPAA1 WDR97 EXOSC4 MROH1 MAF1 CYC1 MIR6847 HGH1
nsv466014	Chr.8:144007080 - 144224185 on Build GRCh38	Loss	SHARPIN GPAA1 WDR97 EXOSC4 MAF1 MIR6847 HGH1 OPLAH MROH1 MIR6846 CYC1 SPATC1 SMPD5
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	FOXH1 SLC39A4 MIR939 DGAT1 MIR1234 GRINA BOP1 MAF1 SCX MIR6893 SLC52A2 OPLAH RECQL4 CPSF1 MIR6846 CYC1 LOC101928902 LOC101928953 SHARPIN PLEC GPAA1 WDR97 PPP1R16A MFSD3 ADCK5 TONSL-AS1 KIFC2 EXOSC4 TONSL TMEM249 MIR6847 HGH1 MIR661 HSF1 PARP10 LRRC14 CYHR1 MIR6848 MIR7112 SCRT1 GPT MROH1 MIR6849 FBXL6 VPS28 SPATC1 SMPD5
nsv6447	Chr.8:144064665 - 144087389 on Build GRCh38	Insertion	GPAA1 EXOSC4 MIR6847
dgv906n27	Chr.8:143845100 - 144161320 on Build GRCh38	Loss	SHARPIN PLEC GPAA1 WDR97 GRINA EXOSC4 EPPK1 MAF1 MIR6847 HGH1 MIR661 PARP10 OPLAH MROH1 MIR6846 CYC1 SPATC1 SMPD5
dgv12433n54	Chr.8:143902404 - 144120626 on Build GRCh38	Gain	SHARPIN PLEC GPAA1 WDR97 GRINA EXOSC4 MAF1 MIR6847 MIR661 PARP10 OPLAH MIR6846 CYC1 SPATC1 SMPD5
nsv470250	Chr.8:143917934 - 144097007 on Build GRCh38	Gain	PLEC PARP10 GPAA1 GRINA OPLAH EXOSC4 MIR6846 CYC1 MIR6847 SPATC1 SMPD5 MIR661
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	FOXH1 SLC39A4 ZNF251 MIR939 DGAT1 LRRC24 MIR1234 C8orf82 BOP1 MAF1 SCX MIR6893 SLC52A2 OPLAH RECQL4 CPSF1 MIR6846 CYC1 LOC101928902 LOC101928953 ARHGAP39 SHARPIN GPAA1 WDR97 PPP1R16A MFSD3 ADCK5 TONSL-AS1 KIFC2 EXOSC4 TONSL TMEM249 MIR6847 HGH1 HSF1 LRRC14 CYHR1 MIR6848 MIR7112 SCRT1 GPT MROH1 MIR6849 FBXL6 VPS28 SPATC1 SMPD5
nsv612907	Chr.8:143917935 - 144097007 on Build GRCh38	Gain+Loss	PLEC PARP10 GPAA1 GRINA OPLAH EXOSC4 MIR6846 CYC1 MIR6847 SPATC1 SMPD5 MIR661

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