Hs02754219_cn

• Gene Symbol: EXOSC4
• Assay Reference Genome Location: Chr.8:144080190 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 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EXOSC4	NM_019037.2			NP_061910.1
	XM_011517134.2			XP_011515436.1
	AF281133.1			AAF82134.1
	AK000598.1			BAA91279.1
	BC002777.2			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	SHARPIN CYC1 GPAA1 MAF1 MIR6847 EXOSC4 HGH1 MROH1 WDR97
nsv470249	Chr.8:143889098 - 144519234 on Build GRCh38	Loss	MIR6849 SHARPIN SLC52A2 CYC1 VPS28 RECQL4 EXOSC4 HGH1 FOXH1 PARP10 ADCK5 MROH1 OPLAH MIR7112 LOC101928953 MFSD3 CYHR1 CPSF1 MIR1234 SCX SMPD5 MIR6848 PPP1R16A BOP1 TMEM249 PLEC WDR97 SPATC1 FBXL6 MIR6847 TONSL MIR6846 MIR6893 TONSL-AS1 SCRT1 HSF1 KIFC2 GPAA1 MAF1 MIR661 GRINA LRRC14 SLC39A4 GPT LOC101928902 DGAT1 MIR939
nsv612914	Chr.8:143972494 - 144120626 on Build GRCh38	Loss	SHARPIN SPATC1 CYC1 MIR6847 EXOSC4 MIR6846 PARP10 OPLAH GPAA1 MAF1 GRINA SMPD5 PLEC WDR97
nsv950015	Chr.8:143866633 - 144125597 on Build GRCh38	Deletion	SHARPIN SPATC1 CYC1 MIR6847 EXOSC4 MIR6846 PARP10 OPLAH GPAA1 MAF1 MIR661 GRINA EPPK1 SMPD5 PLEC WDR97
nsv1161815	Chr.8:143775169 - 144080674 on Build GRCh38	Deletion	SPATC1 MIR937 LOC642574 MIR6847 EXOSC4 MIR6846 PARP10 NRBP2 OPLAH MIR661 GRINA MIR6845 PUF60 EPPK1 SMPD5 SCRIB PLEC
nsv1025071	Chr.8:144044224 - 144300847 on Build GRCh38	Gain	SHARPIN SPATC1 CYC1 MIR6847 EXOSC4 HGH1 MIR6846 MROH1 OPLAH MIR7112 HSF1 GPAA1 MAF1 SCX SMPD5 BOP1 WDR97
esv29971	Chr.8:144068526 - 144172197 on Build GRCh38	Loss	SHARPIN CYC1 GPAA1 MAF1 MIR6847 EXOSC4 HGH1 MROH1 WDR97
nsv466014	Chr.8:144007080 - 144224185 on Build GRCh38	Loss	SHARPIN SPATC1 CYC1 MIR6847 EXOSC4 HGH1 MIR6846 MROH1 OPLAH GPAA1 MAF1 SMPD5 WDR97
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	MIR6849 SHARPIN SLC52A2 CYC1 VPS28 RECQL4 EXOSC4 HGH1 FOXH1 PARP10 ADCK5 MROH1 OPLAH MIR7112 LOC101928953 MFSD3 CYHR1 CPSF1 MIR1234 SCX SMPD5 MIR6848 PPP1R16A BOP1 TMEM249 PLEC WDR97 SPATC1 FBXL6 MIR6847 TONSL MIR6846 MIR6893 TONSL-AS1 SCRT1 HSF1 KIFC2 GPAA1 MAF1 MIR661 GRINA LRRC14 SLC39A4 GPT LOC101928902 DGAT1 MIR939
nsv6447	Chr.8:144064665 - 144087389 on Build GRCh38	Insertion	GPAA1 MIR6847 EXOSC4
dgv12431n54	Chr.8:143845100 - 144161320 on Build GRCh38	Loss	SHARPIN SPATC1 CYC1 MIR6847 EXOSC4 HGH1 MIR6846 PARP10 MROH1 OPLAH GPAA1 MAF1 MIR661 GRINA EPPK1 SMPD5 PLEC WDR97
nsv470250	Chr.8:143917934 - 144097007 on Build GRCh38	Gain	SPATC1 CYC1 GPAA1 MIR661 MIR6847 EXOSC4 GRINA MIR6846 PARP10 SMPD5 PLEC OPLAH
dgv12433n54	Chr.8:143902404 - 144120626 on Build GRCh38	Gain	SHARPIN SPATC1 CYC1 MIR6847 EXOSC4 MIR6846 PARP10 OPLAH GPAA1 MAF1 MIR661 GRINA SMPD5 PLEC WDR97
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	MIR6849 SHARPIN SLC52A2 CYC1 VPS28 RECQL4 EXOSC4 HGH1 FOXH1 ADCK5 ARHGAP39 MROH1 OPLAH MIR7112 LOC101928953 MFSD3 CYHR1 CPSF1 MIR1234 SCX SMPD5 MIR6848 PPP1R16A BOP1 TMEM249 WDR97 SPATC1 C8orf82 FBXL6 MIR6847 TONSL MIR6846 MIR6893 ZNF251 TONSL-AS1 SCRT1 HSF1 KIFC2 GPAA1 MAF1 LRRC24 LRRC14 SLC39A4 GPT LOC101928902 DGAT1 MIR939
nsv612906	Chr.8:143917935 - 144090784 on Build GRCh38	Loss	SPATC1 GPAA1 MIR661 MIR6847 EXOSC4 GRINA MIR6846 PARP10 SMPD5 PLEC OPLAH

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