Hs00790579_cn

• Gene Symbol: UPF1
• Assay Reference Genome Location: Chr.19:18855131 on build GRCh38
• Cytoband: 19p13.11

Target Gene Details

• Entrez Gene ID: 5976
• Gene Name: UPF1, RNA helicase and ATPase
• Gene Aliases: HUPF1, NORF1, RENT1, pNORF1, smg-2
• Location: Chr.19:18831926-18868232 on Build GRCh38
• Assay Gene Location: Overlaps Intron 10 - Exon 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
UPF1	NM_001297549.1			NP_001284478.1
	NM_002911.3			NP_002902.2
	XM_017027105.1			XP_016882594.1
	XM_017027106.1			XP_016882595.1
	AF074016.1			AAC26788.1
	BC039817.1			AAH39817.1
	D86988.1
	U59323.1			AAC51140.1
	U65533.1			AAC50771.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv470132	Chr.19:18853633 - 18943911 on Build GRCh38	Loss	COPE HOMER3 DDX49 UPF1 GDF1 CERS1 LOC102724360
nsv1151217	Chr.19:18627369 - 19284914 on Build GRCh38	Deletion	MEF2B COPE HOMER3 NR2C2AP SLC25A42 UPF1 CERS1 LOC102724360 NCAN SUGP1 SUGP2 BORCS8 ARMC6 TMEM161A DDX49 CRTC1 KLHL26 TM6SF2 GDF1 HAPLN4 BORCS8-MEF2B COMP RFXANK
nsv833777	Chr.19:18765126 - 18920267 on Build GRCh38	Loss	COPE DDX49 CRTC1 UPF1 GDF1 CERS1 COMP

More Information

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

Gene Ontology Categories:

Process(es)

nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
nuclear-transcribed mRNA catabolic process, endonucleolytic cleavage-dependent decay
telomere maintenance
nuclear-transcribed mRNA catabolic process
DNA replication
DNA repair
mRNA export from nucleus
regulation of translational termination
dosage compensation by inactivation of X chromosome
telomere maintenance via semi-conservative replication
positive regulation of mRNA catabolic process
3'-UTR-mediated mRNA destabilization
histone mRNA catabolic process
cellular response to lipopolysaccharide
cellular response to interleukin-1

Function(s)

chromatin binding
RNA binding
ATP-dependent RNA helicase activity
helicase activity
protein binding
ATP binding
zinc ion binding
telomeric DNA binding
poly(A) RNA binding