Hs03657633_cn

• Gene Symbol: EXOSC4
• Assay Reference Genome Location: Chr.8:144065297 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	MIR661 SLC52A2 MIR6849 GRINA SLC39A4 MIR6893 SHARPIN TMEM249 WDR97 FBXL6 SCX MIR1234 ADCK5 SCRT1 MAF1 MIR7112 MIR6846 RECQL4 TONSL HGH1 SPATC1 LRRC14 SMPD5 GPT BOP1 PLEC CYHR1 EXOSC4 KIFC2 PPP1R16A OPLAH DGAT1 CYC1 MFSD3 MIR939 PARP10 LOC101928953 GPAA1 LOC101928902 MROH1 MIR6848 VPS28 CPSF1 FOXH1 MIR6847 TONSL-AS1 HSF1
nsv612914	Chr.8:143972494 - 144120626 on Build GRCh38	Loss	SPATC1 GRINA SMPD5 SHARPIN WDR97 PLEC EXOSC4 OPLAH CYC1 PARP10 GPAA1 MAF1 MIR6846 MIR6847
nsv950015	Chr.8:143866633 - 144125597 on Build GRCh38	Deletion	MIR661 SPATC1 GRINA SMPD5 SHARPIN WDR97 PLEC EXOSC4 OPLAH CYC1 PARP10 EPPK1 GPAA1 MAF1 MIR6846 MIR6847
nsv1161815	Chr.8:143775169 - 144080674 on Build GRCh38	Deletion	MIR661 SPATC1 GRINA SMPD5 MIR937 PLEC EXOSC4 NRBP2 OPLAH PUF60 LOC642574 MIR6845 PARP10 EPPK1 MIR6846 SCRIB MIR6847
nsv1025071	Chr.8:144044224 - 144300847 on Build GRCh38	Gain	HGH1 SPATC1 SMPD5 SHARPIN WDR97 BOP1 SCX EXOSC4 OPLAH CYC1 GPAA1 MAF1 MIR7112 MROH1 MIR6846 MIR6847 HSF1
nsv612915	Chr.8:144007080 - 144224185 on Build GRCh38	Loss	HGH1 SPATC1 SMPD5 SHARPIN WDR97 EXOSC4 OPLAH CYC1 GPAA1 MAF1 MROH1 MIR6846 MIR6847
nsv6447	Chr.8:144064665 - 144087389 on Build GRCh38	Insertion	GPAA1 MIR6847 EXOSC4
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	MIR661 SLC52A2 MIR6849 GRINA SLC39A4 MIR6893 SHARPIN TMEM249 WDR97 FBXL6 SCX MIR1234 ADCK5 SCRT1 MAF1 MIR7112 MIR6846 RECQL4 TONSL HGH1 SPATC1 LRRC14 SMPD5 GPT BOP1 PLEC CYHR1 EXOSC4 KIFC2 PPP1R16A OPLAH DGAT1 CYC1 MFSD3 MIR939 PARP10 LOC101928953 GPAA1 LOC101928902 MROH1 MIR6848 VPS28 CPSF1 FOXH1 MIR6847 TONSL-AS1 HSF1
dgv12431n54	Chr.8:143845100 - 144161320 on Build GRCh38	Loss	MIR661 HGH1 SPATC1 GRINA SMPD5 SHARPIN WDR97 PLEC EXOSC4 OPLAH CYC1 PARP10 EPPK1 GPAA1 MAF1 MROH1 MIR6846 MIR6847
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	SLC52A2 MIR6849 ZNF251 SLC39A4 MIR6893 SHARPIN TMEM249 WDR97 FBXL6 SCX MIR1234 ADCK5 LRRC24 SCRT1 C8orf82 MAF1 MIR7112 MIR6846 RECQL4 TONSL HGH1 SPATC1 ARHGAP39 LRRC14 SMPD5 GPT BOP1 CYHR1 EXOSC4 KIFC2 PPP1R16A OPLAH DGAT1 CYC1 MFSD3 MIR939 LOC101928953 GPAA1 LOC101928902 MROH1 MIR6848 VPS28 CPSF1 FOXH1 MIR6847 TONSL-AS1 HSF1
nsv470250	Chr.8:143917934 - 144097007 on Build GRCh38	Gain	MIR661 OPLAH SPATC1 CYC1 GRINA PARP10 SMPD5 GPAA1 MIR6846 PLEC MIR6847 EXOSC4
dgv12433n54	Chr.8:143902404 - 144120626 on Build GRCh38	Gain	MIR661 SPATC1 GRINA SMPD5 SHARPIN WDR97 PLEC EXOSC4 OPLAH CYC1 PARP10 GPAA1 MAF1 MIR6846 MIR6847
nsv612906	Chr.8:143917935 - 144090784 on Build GRCh38	Loss	MIR661 OPLAH SPATC1 GRINA PARP10 SMPD5 GPAA1 MIR6846 PLEC MIR6847 EXOSC4

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