Hs01703777_cn

• Gene Symbol: EXOSC4
• Assay Reference Genome Location: Chr.8:144080603 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	850	NP_061910.1
	XM_011517134.2	3	708	XP_011515436.1
	AF281133.1			AAF82134.1
	AK000598.1	3	767	BAA91279.1
	BC002777.2	3	764	AAH02777.1

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	MROH1 MIR6847 EXOSC4 SHARPIN HGH1 WDR97 MAF1 CYC1 GPAA1
nsv470249	Chr.8:143889098 - 144519234 on Build GRCh38	Loss	GPT MROH1 MIR661 ADCK5 TMEM249 HGH1 GRINA TONSL-AS1 RECQL4 KIFC2 VPS28 PARP10 SLC39A4 MIR6847 EXOSC4 OPLAH SHARPIN SMPD5 WDR97 MIR7112 FOXH1 MFSD3 MIR6849 SCX GPAA1 SLC52A2 LRRC14 TONSL SCRT1 FBXL6 LOC101928902 DGAT1 MIR6846 MIR939 MAF1 CYC1 MIR1234 SPATC1 LOC101928953 PLEC MIR6893 MIR6848 CPSF1 HSF1 BOP1 PPP1R16A CYHR1
nsv612914	Chr.8:143972494 - 144120626 on Build GRCh38	Loss	MIR6846 MAF1 GRINA CYC1 SPATC1 PARP10 PLEC MIR6847 EXOSC4 OPLAH SHARPIN SMPD5 WDR97 GPAA1
nsv950015	Chr.8:143866633 - 144125597 on Build GRCh38	Deletion	MIR661 MIR6846 MAF1 GRINA CYC1 SPATC1 PARP10 PLEC EPPK1 MIR6847 EXOSC4 OPLAH SHARPIN SMPD5 WDR97 GPAA1
nsv1161815	Chr.8:143775169 - 144080674 on Build GRCh38	Deletion	MIR937 MIR661 MIR6846 PUF60 GRINA NRBP2 SPATC1 PARP10 SCRIB PLEC EPPK1 MIR6847 EXOSC4 OPLAH LOC642574 SMPD5 MIR6845
nsv1025071	Chr.8:144044224 - 144300847 on Build GRCh38	Gain	MROH1 HGH1 MIR6846 MAF1 CYC1 SPATC1 MIR6847 EXOSC4 OPLAH SHARPIN SMPD5 WDR97 MIR7112 HSF1 BOP1 SCX GPAA1
esv29971	Chr.8:144068526 - 144172197 on Build GRCh38	Loss	MROH1 MIR6847 EXOSC4 SHARPIN HGH1 WDR97 MAF1 CYC1 GPAA1
nsv612915	Chr.8:144007080 - 144224185 on Build GRCh38	Loss	MROH1 HGH1 MIR6846 MAF1 CYC1 SPATC1 MIR6847 EXOSC4 OPLAH SHARPIN SMPD5 WDR97 GPAA1
nsv6447	Chr.8:144064665 - 144087389 on Build GRCh38	Insertion	MIR6847 EXOSC4 GPAA1
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	GPT MROH1 MIR661 ADCK5 TMEM249 HGH1 GRINA TONSL-AS1 RECQL4 KIFC2 VPS28 PARP10 SLC39A4 MIR6847 EXOSC4 OPLAH SHARPIN SMPD5 WDR97 MIR7112 FOXH1 MFSD3 MIR6849 SCX GPAA1 SLC52A2 LRRC14 TONSL SCRT1 FBXL6 LOC101928902 DGAT1 MIR6846 MIR939 MAF1 CYC1 MIR1234 SPATC1 LOC101928953 PLEC MIR6893 MIR6848 CPSF1 HSF1 BOP1 PPP1R16A CYHR1
dgv12431n54	Chr.8:143845100 - 144161320 on Build GRCh38	Loss	MROH1 MIR661 HGH1 MIR6846 MAF1 GRINA CYC1 SPATC1 PARP10 PLEC EPPK1 MIR6847 EXOSC4 OPLAH SHARPIN SMPD5 WDR97 GPAA1
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	GPT MROH1 ADCK5 TMEM249 HGH1 TONSL-AS1 RECQL4 KIFC2 ZNF251 VPS28 SLC39A4 MIR6847 EXOSC4 OPLAH SHARPIN SMPD5 WDR97 MIR7112 FOXH1 MFSD3 MIR6849 SCX GPAA1 SLC52A2 LRRC14 TONSL SCRT1 FBXL6 LOC101928902 DGAT1 MIR6846 MIR939 MAF1 LRRC24 CYC1 MIR1234 SPATC1 ARHGAP39 LOC101928953 MIR6893 MIR6848 CPSF1 HSF1 C8orf82 BOP1 PPP1R16A CYHR1
nsv470250	Chr.8:143917934 - 144097007 on Build GRCh38	Gain	PLEC MIR6847 MIR661 EXOSC4 OPLAH SMPD5 MIR6846 GRINA CYC1 SPATC1 GPAA1 PARP10
dgv12433n54	Chr.8:143902404 - 144120626 on Build GRCh38	Gain	MIR661 MIR6846 MAF1 GRINA CYC1 SPATC1 PARP10 PLEC MIR6847 EXOSC4 OPLAH SHARPIN SMPD5 WDR97 GPAA1
nsv612906	Chr.8:143917935 - 144090784 on Build GRCh38	Loss	PLEC MIR6847 MIR661 EXOSC4 OPLAH SMPD5 MIR6846 GRINA SPATC1 GPAA1 PARP10

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