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	EXOSC4 GPAA1 MIR6847 CYC1 MAF1 SHARPIN MROH1 WDR97 HGH1
nsv470249	Chr.8:143889098 - 144519234 on Build GRCh38	Loss	SCRT1 PLEC LRRC14 SPATC1 TONSL LOC101928953 TMEM249 MFSD3 TONSL-AS1 DGAT1 ADCK5 GPT PPP1R16A MIR6846 SCX CYHR1 MAF1 MROH1 WDR97 HSF1 VPS28 MIR661 CPSF1 LOC101928902 MIR7112 SLC39A4 SMPD5 FBXL6 SHARPIN HGH1 MIR1234 RECQL4 EXOSC4 GPAA1 MIR6847 KIFC2 CYC1 BOP1 MIR6848 MIR6849 SLC52A2 MIR939 PARP10 OPLAH FOXH1 GRINA MIR6893
nsv612914	Chr.8:143972494 - 144120626 on Build GRCh38	Loss	PLEC SPATC1 SMPD5 SHARPIN EXOSC4 GPAA1 MIR6847 MIR6846 CYC1 MAF1 WDR97 PARP10 OPLAH GRINA
nsv950015	Chr.8:143866633 - 144125597 on Build GRCh38	Deletion	MIR661 PLEC SPATC1 SMPD5 SHARPIN EPPK1 EXOSC4 GPAA1 MIR6847 MIR6846 CYC1 MAF1 WDR97 PARP10 OPLAH GRINA
nsv1161815	Chr.8:143775169 - 144080674 on Build GRCh38	Deletion	MIR661 PLEC SPATC1 PUF60 NRBP2 MIR937 SMPD5 MIR6845 EPPK1 SCRIB EXOSC4 MIR6847 MIR6846 PARP10 LOC642574 OPLAH GRINA
nsv1025071	Chr.8:144044224 - 144300847 on Build GRCh38	Gain	SPATC1 MIR7112 SMPD5 SHARPIN HGH1 EXOSC4 GPAA1 MIR6847 MIR6846 CYC1 BOP1 SCX MAF1 MROH1 WDR97 OPLAH HSF1
esv29971	Chr.8:144068526 - 144172197 on Build GRCh38	Loss	EXOSC4 GPAA1 MIR6847 CYC1 MAF1 SHARPIN MROH1 WDR97 HGH1
nsv612915	Chr.8:144007080 - 144224185 on Build GRCh38	Loss	SPATC1 SMPD5 SHARPIN HGH1 EXOSC4 GPAA1 MIR6847 MIR6846 CYC1 MAF1 MROH1 WDR97 OPLAH
nsv6447	Chr.8:144064665 - 144087389 on Build GRCh38	Insertion	EXOSC4 GPAA1 MIR6847
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	SCRT1 PLEC LRRC14 SPATC1 TONSL LOC101928953 TMEM249 MFSD3 TONSL-AS1 DGAT1 ADCK5 GPT PPP1R16A MIR6846 SCX CYHR1 MAF1 MROH1 WDR97 HSF1 VPS28 MIR661 CPSF1 LOC101928902 MIR7112 SLC39A4 SMPD5 FBXL6 SHARPIN HGH1 MIR1234 RECQL4 EXOSC4 GPAA1 MIR6847 KIFC2 CYC1 BOP1 MIR6848 MIR6849 SLC52A2 MIR939 PARP10 OPLAH FOXH1 GRINA MIR6893
dgv906n27	Chr.8:143845100 - 144161320 on Build GRCh38	Loss	MIR661 PLEC SPATC1 SMPD5 SHARPIN EPPK1 HGH1 EXOSC4 GPAA1 MIR6847 MIR6846 CYC1 MAF1 MROH1 WDR97 PARP10 OPLAH GRINA
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	SCRT1 LRRC24 LRRC14 SPATC1 TONSL LOC101928953 TMEM249 ZNF251 MFSD3 TONSL-AS1 DGAT1 ADCK5 GPT PPP1R16A MIR6846 SCX CYHR1 MAF1 MROH1 WDR97 ARHGAP39 HSF1 VPS28 CPSF1 LOC101928902 MIR7112 SLC39A4 SMPD5 FBXL6 SHARPIN HGH1 MIR1234 RECQL4 EXOSC4 GPAA1 MIR6847 KIFC2 CYC1 BOP1 C8orf82 MIR6848 MIR6849 SLC52A2 MIR939 OPLAH FOXH1 MIR6893
dgv12433n54	Chr.8:143902404 - 144120626 on Build GRCh38	Gain	MIR661 PLEC SPATC1 SMPD5 SHARPIN EXOSC4 GPAA1 MIR6847 MIR6846 CYC1 MAF1 WDR97 PARP10 OPLAH GRINA
nsv470250	Chr.8:143917934 - 144097007 on Build GRCh38	Gain	MIR661 PLEC EXOSC4 GPAA1 MIR6847 SPATC1 MIR6846 CYC1 SMPD5 PARP10 OPLAH GRINA
nsv612907	Chr.8:143917935 - 144097007 on Build GRCh38	Gain+Loss	MIR661 PLEC EXOSC4 GPAA1 MIR6847 SPATC1 MIR6846 CYC1 SMPD5 PARP10 OPLAH GRINA

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