Hs00853104_cn

• Gene Symbol: EXOSC4
• Assay Reference Genome Location: Chr.8:144080332 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 Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EXOSC4	NM_019037.2	3	579	NP_061910.1
	XM_011517134.2	3	437	XP_011515436.1
	AF281133.1	3	572	AAF82134.1
	AK000598.1	3	496	BAA91279.1
	BC002777.2	3	493	AAH02777.1
	BM839994.1

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

More Information

• Set Membership: Intragenic, 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