Hs01821370_cn

• Gene Symbol: CPSF1
• Assay Reference Genome Location: Chr.8:144400263 on build GRCh38
• Cytoband: 8q24.3

Target Gene Details

• Entrez Gene ID: 29894
• Gene Name: cleavage and polyadenylation specific factor 1
• Gene Aliases: CPSF160, HSU37012, P/cl.18
• Location: Chr.8:144393231-144409400 on Build GRCh38
• Assay Gene Location: Overlaps Intron 10 - Exon 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CPSF1	NM_013291.2			NP_037423.2
	XM_006716548.2			XP_006716611.1
	XM_006716549.2			XP_006716612.1
	XM_011516997.1			XP_011515299.1
	XM_011516998.1			XP_011515300.1
	XM_011516999.1			XP_011515301.1
	AK293601.1
	BC017232.2			AAH17232.1
	U37012.1			AAC50293.1

Target Gene Details

• Entrez Gene ID: 102466749
• Gene Name: microRNA 6849
• Gene Aliases: hsa-mir-6849
• Location: Chr.8:144400277-144400345 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MIR6849	NR_106908.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv12434n54	Chr.8:144270080 - 144516801 on Build GRCh38	Loss	TONSL SLC52A2 FOXH1 MIR1234 LOC101928902 KIFC2 TONSL-AS1 MFSD3 DGAT1 TMEM249 GPT ADCK5 PPP1R16A CPSF1 LOC101928953 MIR939 MIR6848 VPS28 HSF1 CYHR1 MIR6849 RECQL4 MIR6893 SCRT1 FBXL6 BOP1 SLC39A4
nsv470249	Chr.8:143889098 - 144519234 on Build GRCh38	Loss	TONSL SLC52A2 MIR6846 FOXH1 MIR1234 LOC101928902 KIFC2 TONSL-AS1 MFSD3 OPLAH MROH1 SCX EXOSC4 MIR6847 DGAT1 WDR97 TMEM249 GPT ADCK5 LRRC14 PPP1R16A CPSF1 LOC101928953 SHARPIN SPATC1 MIR939 MIR6848 VPS28 HSF1 CYHR1 MIR7112 MIR661 MIR6849 SMPD5 PLEC PARP10 HGH1 GPAA1 RECQL4 MIR6893 SCRT1 FBXL6 BOP1 GRINA MAF1 SLC39A4 CYC1
dgv12437n54	Chr.8:144345873 - 144448001 on Build GRCh38	Loss	TONSL SLC52A2 CPSF1 MIR1234 MIR939 VPS28 LOC101928902 TONSL-AS1 MIR6849 MIR6893 FBXL6 TMEM249 SLC39A4 ADCK5
nsv831489	Chr.8:144342140 - 144544026 on Build GRCh38	Loss	TONSL SLC52A2 FOXH1 MIR1234 LOC101928902 KIFC2 TONSL-AS1 MFSD3 C8orf82 TMEM249 GPT ADCK5 LRRC14 PPP1R16A CPSF1 LOC101928953 MIR939 LRRC24 VPS28 CYHR1 MIR6849 ARHGAP39 RECQL4 MIR6893 FBXL6 SLC39A4
esv2759652	Chr.8:144300010 - 144472295 on Build GRCh38	Gain+Loss	TONSL SLC52A2 CPSF1 MIR1234 MIR939 MIR6848 VPS28 HSF1 LOC101928902 CYHR1 KIFC2 TONSL-AS1 MIR6849 MIR6893 SCRT1 FBXL6 DGAT1 TMEM249 SLC39A4 ADCK5
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	TONSL SLC52A2 MIR6846 FOXH1 MIR1234 LOC101928902 KIFC2 TONSL-AS1 MFSD3 OPLAH MROH1 SCX EXOSC4 MIR6847 DGAT1 WDR97 TMEM249 GPT ADCK5 LRRC14 PPP1R16A CPSF1 LOC101928953 SHARPIN SPATC1 MIR939 MIR6848 VPS28 HSF1 CYHR1 MIR7112 MIR661 MIR6849 SMPD5 PLEC PARP10 HGH1 GPAA1 RECQL4 MIR6893 SCRT1 FBXL6 BOP1 GRINA MAF1 SLC39A4 CYC1
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	TONSL SLC52A2 MIR6846 FOXH1 MIR1234 LOC101928902 KIFC2 TONSL-AS1 MFSD3 OPLAH MROH1 SCX C8orf82 ZNF251 EXOSC4 MIR6847 DGAT1 WDR97 TMEM249 GPT ADCK5 LRRC14 PPP1R16A CPSF1 LOC101928953 SHARPIN SPATC1 MIR939 MIR6848 LRRC24 VPS28 HSF1 CYHR1 MIR7112 MIR6849 SMPD5 ARHGAP39 HGH1 GPAA1 RECQL4 MIR6893 SCRT1 FBXL6 BOP1 MAF1 SLC39A4 CYC1
nsv824805	Chr.8:144392032 - 144416631 on Build GRCh38	Gain	MIR6849 CPSF1 MIR1234 MIR939 SLC39A4 ADCK5

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

RNA processing factor

Gene Ontology Categories:

Process(es)

mRNA splicing, via spliceosome
termination of RNA polymerase II transcription
mRNA polyadenylation
mRNA cleavage
tRNA splicing, via endonucleolytic cleavage and ligation
mRNA export from nucleus
mRNA 3'-end processing
pre-mRNA cleavage required for polyadenylation

Function(s)

protein binding
enzyme binding
mRNA 3'-UTR AU-rich region binding