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