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

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