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

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