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