Hs02038066_cn

• Gene Symbol: CPSF1
• Assay Reference Genome Location: Chr.8:144394236 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 36 - Exon 36

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_006716550.3			XP_006716613.1
	XM_011516997.1			XP_011515299.1
	XM_011516998.1			XP_011515300.1
	XM_011516999.1			XP_011515301.1
	AB046744.1			BAB21613.1
	BC017232.2			AAH17232.1
	U37012.1			AAC50293.1

Target Gene Details

• Entrez Gene ID: 100126351
• Gene Name: microRNA 939
• Gene Aliases: MIRN939, hsa-mir-939, mir-939
• Location: Chr.8:144394149-144394230 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MIR939	NR_030635.1

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	RECQL4 ADCK5 SLC39A4 MIR6849 TMEM249 HSF1 MIR6893 FOXH1 MFSD3 SCRT1 LOC101928953 PPP1R16A VPS28 CYHR1 TONSL-AS1 SLC52A2 TONSL LOC101928902 DGAT1 FBXL6 BOP1 KIFC2 GPT MIR6848 CPSF1 MIR1234 MIR939
nsv470249	Chr.8:143889098 - 144519234 on Build GRCh38	Loss	RECQL4 MIR661 ADCK5 SMPD5 SLC39A4 MIR6849 MIR6846 SCX TMEM249 HGH1 HSF1 MIR6893 FOXH1 OPLAH MFSD3 SCRT1 WDR97 GPAA1 LOC101928953 PPP1R16A VPS28 CYHR1 TONSL-AS1 SLC52A2 SHARPIN TONSL LOC101928902 PLEC DGAT1 FBXL6 BOP1 GRINA MAF1 KIFC2 GPT MIR6847 EXOSC4 MIR6848 CPSF1 LRRC14 MIR1234 CYC1 MIR939 MROH1 SPATC1 MIR7112 PARP10
dgv12437n54	Chr.8:144345873 - 144448001 on Build GRCh38	Loss	ADCK5 TONSL LOC101928902 SLC39A4 MIR6849 FBXL6 TMEM249 MIR6893 CPSF1 MIR1234 VPS28 TONSL-AS1 MIR939 SLC52A2
nsv831489	Chr.8:144342140 - 144544026 on Build GRCh38	Loss	RECQL4 ADCK5 SLC39A4 MIR6849 TMEM249 MIR6893 FOXH1 MFSD3 LOC101928953 C8orf82 PPP1R16A VPS28 CYHR1 TONSL-AS1 SLC52A2 TONSL LOC101928902 FBXL6 ARHGAP39 KIFC2 GPT CPSF1 LRRC24 LRRC14 MIR1234 MIR939
esv2759652	Chr.8:144300010 - 144472295 on Build GRCh38	Gain+Loss	ADCK5 TONSL LOC101928902 SLC39A4 DGAT1 MIR6849 FBXL6 KIFC2 TMEM249 HSF1 MIR6893 MIR6848 CPSF1 SCRT1 MIR1234 VPS28 CYHR1 TONSL-AS1 MIR939 SLC52A2
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	RECQL4 MIR661 ADCK5 SMPD5 SLC39A4 MIR6849 MIR6846 SCX TMEM249 HGH1 HSF1 MIR6893 FOXH1 OPLAH MFSD3 SCRT1 WDR97 GPAA1 LOC101928953 PPP1R16A VPS28 CYHR1 TONSL-AS1 SLC52A2 SHARPIN TONSL LOC101928902 PLEC DGAT1 FBXL6 BOP1 GRINA MAF1 KIFC2 GPT MIR6847 EXOSC4 MIR6848 CPSF1 LRRC14 MIR1234 CYC1 MIR939 MROH1 SPATC1 MIR7112 PARP10
nsv612934	Chr.8:144390576 - 144397883 on Build GRCh38	Loss	ADCK5 MIR939 CPSF1
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	RECQL4 ADCK5 SMPD5 SLC39A4 MIR6849 MIR6846 SCX TMEM249 HGH1 HSF1 MIR6893 FOXH1 OPLAH MFSD3 SCRT1 WDR97 GPAA1 LOC101928953 C8orf82 PPP1R16A VPS28 CYHR1 TONSL-AS1 SLC52A2 SHARPIN TONSL LOC101928902 DGAT1 FBXL6 ARHGAP39 BOP1 MAF1 KIFC2 GPT MIR6847 EXOSC4 MIR6848 CPSF1 LRRC24 LRRC14 MIR1234 CYC1 ZNF251 MIR939 MROH1 SPATC1 MIR7112
nsv824805	Chr.8:144392032 - 144416631 on Build GRCh38	Gain	ADCK5 SLC39A4 MIR6849 MIR1234 MIR939 CPSF1

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