Hs03667040_cn

• Gene Symbol: EXOSC4
• Assay Reference Genome Location: Chr.8:144074515 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	SCX MIR7112 MFSD3 OPLAH SCRT1 EXOSC4 KIFC2 TONSL-AS1 HSF1 SPATC1 TONSL MIR6893 GPT GRINA TMEM249 FBXL6 LRRC14 LOC101928902 GPAA1 SLC39A4 SHARPIN SLC52A2 SMPD5 PARP10 PPP1R16A MAF1 CYC1 MIR6848 ADCK5 MIR1234 DGAT1 FOXH1 CYHR1 HGH1 MIR939 MIR661 PLEC BOP1 VPS28 MIR6847 RECQL4 CPSF1 WDR97 LOC101928953 MIR6849 MROH1 MIR6846
nsv612914	Chr.8:143972494 - 144120626 on Build GRCh38	Loss	SMPD5 PARP10 MAF1 CYC1 OPLAH EXOSC4 SPATC1 GRINA PLEC MIR6847 GPAA1 WDR97 MIR6846 SHARPIN
nsv950015	Chr.8:143866633 - 144125597 on Build GRCh38	Deletion	SMPD5 PARP10 MAF1 CYC1 OPLAH EXOSC4 SPATC1 GRINA MIR661 EPPK1 PLEC MIR6847 GPAA1 WDR97 MIR6846 SHARPIN
nsv1161815	Chr.8:143775169 - 144080674 on Build GRCh38	Deletion	SMPD5 PARP10 LOC642574 OPLAH SCRIB EXOSC4 SPATC1 GRINA MIR661 NRBP2 EPPK1 PLEC MIR6845 PUF60 MIR6847 MIR6846 MIR937
nsv1025071	Chr.8:144044224 - 144300847 on Build GRCh38	Gain	SMPD5 MAF1 SCX MIR7112 CYC1 OPLAH EXOSC4 HSF1 SPATC1 HGH1 BOP1 MIR6847 GPAA1 WDR97 MROH1 MIR6846 SHARPIN
esv29971	Chr.8:144068526 - 144172197 on Build GRCh38	Loss	HGH1 MAF1 CYC1 EXOSC4 MIR6847 GPAA1 WDR97 MROH1 SHARPIN
nsv466014	Chr.8:144007080 - 144224185 on Build GRCh38	Loss	SMPD5 MAF1 CYC1 OPLAH EXOSC4 SPATC1 HGH1 MIR6847 GPAA1 WDR97 MROH1 MIR6846 SHARPIN
nsv6447	Chr.8:144064665 - 144087389 on Build GRCh38	Insertion	EXOSC4 MIR6847 GPAA1
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	SCX MIR7112 MFSD3 OPLAH SCRT1 EXOSC4 KIFC2 TONSL-AS1 HSF1 SPATC1 TONSL MIR6893 GPT GRINA TMEM249 FBXL6 LRRC14 LOC101928902 GPAA1 SLC39A4 SHARPIN SLC52A2 SMPD5 PARP10 PPP1R16A MAF1 CYC1 MIR6848 ADCK5 MIR1234 DGAT1 FOXH1 CYHR1 HGH1 MIR939 MIR661 PLEC BOP1 VPS28 MIR6847 RECQL4 CPSF1 WDR97 LOC101928953 MIR6849 MROH1 MIR6846
dgv906n27	Chr.8:143845100 - 144161320 on Build GRCh38	Loss	SMPD5 PARP10 MAF1 CYC1 OPLAH EXOSC4 SPATC1 GRINA HGH1 MIR661 EPPK1 PLEC MIR6847 GPAA1 WDR97 MROH1 MIR6846 SHARPIN
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	SCX MIR7112 MFSD3 OPLAH SCRT1 EXOSC4 KIFC2 TONSL-AS1 HSF1 SPATC1 TONSL C8orf82 LRRC24 MIR6893 GPT TMEM249 FBXL6 LRRC14 LOC101928902 GPAA1 ZNF251 SLC39A4 SHARPIN SLC52A2 SMPD5 PPP1R16A MAF1 CYC1 MIR6848 ADCK5 ARHGAP39 MIR1234 DGAT1 FOXH1 CYHR1 HGH1 MIR939 BOP1 VPS28 MIR6847 RECQL4 CPSF1 WDR97 LOC101928953 MIR6849 MROH1 MIR6846
dgv12433n54	Chr.8:143902404 - 144120626 on Build GRCh38	Gain	SMPD5 PARP10 MAF1 CYC1 OPLAH EXOSC4 SPATC1 GRINA MIR661 PLEC MIR6847 GPAA1 WDR97 MIR6846 SHARPIN
nsv470250	Chr.8:143917934 - 144097007 on Build GRCh38	Gain	SMPD5 PARP10 MIR661 CYC1 OPLAH PLEC EXOSC4 MIR6847 SPATC1 GPAA1 MIR6846 GRINA
nsv612907	Chr.8:143917935 - 144097007 on Build GRCh38	Gain+Loss	SMPD5 PARP10 MIR661 CYC1 OPLAH PLEC EXOSC4 MIR6847 SPATC1 GPAA1 MIR6846 GRINA

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