Hs02660823_cn

• Gene Symbol: EXOSC4
• Assay Reference Genome Location: Chr.8:144078828 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 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EXOSC4	NM_019037.2	1	210	NP_061910.1
	XM_011517134.2			XP_011515436.1
	AF281133.1	1	203	AAF82134.1
	AK000598.1	1	127	BAA91279.1
	BC002777.2	1	124	AAH02777.1
	BM839994.1	1	210

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

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