Hs00853104_cn

• Gene Symbol: EXOSC4
• Assay Reference Genome Location: Chr.8:144080332 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	579	NP_061910.1
	XM_011517134.2	3	437	XP_011515436.1
	AF281133.1	3	572	AAF82134.1
	AK000598.1	3	496	BAA91279.1
	BC002777.2	3	493	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	MAF1 GPAA1 CYC1 MROH1 SHARPIN EXOSC4 MIR6847 WDR97 HGH1
nsv470249	Chr.8:143889098 - 144519234 on Build GRCh38	Loss	MAF1 VPS28 DGAT1 SLC39A4 MIR6848 LOC101928953 MFSD3 SCRT1 CPSF1 FBXL6 GRINA BOP1 CYC1 MROH1 MIR939 SHARPIN HSF1 MIR6849 EXOSC4 SLC52A2 SCX SMPD5 TMEM249 GPAA1 CYHR1 MIR6893 PLEC GPT TONSL-AS1 MIR661 FOXH1 MIR6847 RECQL4 PPP1R16A LOC101928902 MIR1234 OPLAH MIR6846 KIFC2 LRRC14 MIR7112 ADCK5 SPATC1 WDR97 HGH1 TONSL PARP10
nsv612914	Chr.8:143972494 - 144120626 on Build GRCh38	Loss	MAF1 GPAA1 PLEC MIR6847 OPLAH GRINA MIR6846 CYC1 SHARPIN SPATC1 EXOSC4 WDR97 PARP10 SMPD5
nsv950015	Chr.8:143866633 - 144125597 on Build GRCh38	Deletion	MAF1 GPAA1 PLEC MIR661 MIR6847 OPLAH GRINA MIR6846 CYC1 EPPK1 SHARPIN SPATC1 EXOSC4 WDR97 PARP10 SMPD5
nsv1161815	Chr.8:143775169 - 144080674 on Build GRCh38	Deletion	NRBP2 PLEC MIR661 LOC642574 MIR6847 SCRIB OPLAH GRINA MIR6846 PUF60 EPPK1 MIR6845 SPATC1 EXOSC4 MIR937 PARP10 SMPD5
nsv1025071	Chr.8:144044224 - 144300847 on Build GRCh38	Gain	MAF1 GPAA1 MIR6847 OPLAH MIR6846 BOP1 CYC1 MROH1 SHARPIN MIR7112 HSF1 SPATC1 EXOSC4 WDR97 HGH1 SCX SMPD5
esv29971	Chr.8:144068526 - 144172197 on Build GRCh38	Loss	MAF1 GPAA1 CYC1 MROH1 SHARPIN EXOSC4 MIR6847 WDR97 HGH1
nsv612915	Chr.8:144007080 - 144224185 on Build GRCh38	Loss	MAF1 GPAA1 MIR6847 OPLAH MIR6846 CYC1 MROH1 SHARPIN SPATC1 EXOSC4 WDR97 HGH1 SMPD5
nsv6447	Chr.8:144064665 - 144087389 on Build GRCh38	Insertion	GPAA1 EXOSC4 MIR6847
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	MAF1 VPS28 DGAT1 SLC39A4 MIR6848 LOC101928953 MFSD3 SCRT1 CPSF1 FBXL6 GRINA BOP1 CYC1 MROH1 MIR939 SHARPIN HSF1 MIR6849 EXOSC4 SLC52A2 SCX SMPD5 TMEM249 GPAA1 CYHR1 MIR6893 PLEC GPT TONSL-AS1 MIR661 FOXH1 MIR6847 RECQL4 PPP1R16A LOC101928902 MIR1234 OPLAH MIR6846 KIFC2 LRRC14 MIR7112 ADCK5 SPATC1 WDR97 HGH1 TONSL PARP10
dgv12431n54	Chr.8:143845100 - 144161320 on Build GRCh38	Loss	MAF1 GPAA1 PLEC MIR661 MIR6847 OPLAH GRINA MIR6846 CYC1 MROH1 EPPK1 SHARPIN SPATC1 EXOSC4 WDR97 HGH1 PARP10 SMPD5
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	MAF1 VPS28 DGAT1 LRRC24 SLC39A4 MIR6848 LOC101928953 MFSD3 SCRT1 CPSF1 FBXL6 C8orf82 BOP1 CYC1 MROH1 ARHGAP39 MIR939 SHARPIN HSF1 MIR6849 EXOSC4 SLC52A2 ZNF251 SCX SMPD5 TMEM249 GPAA1 CYHR1 MIR6893 GPT TONSL-AS1 FOXH1 MIR6847 RECQL4 PPP1R16A LOC101928902 MIR1234 OPLAH MIR6846 KIFC2 LRRC14 MIR7112 ADCK5 SPATC1 WDR97 HGH1 TONSL
nsv470250	Chr.8:143917934 - 144097007 on Build GRCh38	Gain	GPAA1 CYC1 PLEC MIR661 SPATC1 EXOSC4 MIR6847 PARP10 OPLAH GRINA MIR6846 SMPD5
dgv12433n54	Chr.8:143902404 - 144120626 on Build GRCh38	Gain	MAF1 GPAA1 PLEC MIR661 MIR6847 OPLAH GRINA MIR6846 CYC1 SHARPIN SPATC1 EXOSC4 WDR97 PARP10 SMPD5
nsv612906	Chr.8:143917935 - 144090784 on Build GRCh38	Loss	GPAA1 PLEC MIR661 SPATC1 EXOSC4 MIR6847 PARP10 OPLAH GRINA MIR6846 SMPD5

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