Hs03658333_cn

• Gene Symbol: EXOSC4
• Assay Reference Genome Location: Chr.8:144073927 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 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EXOSC4	XM_011517134.2			XP_011515436.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

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

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