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See other UPF1 CNV Assays ›
Gene Symbol
UPF1
Assay Reference Genome
Location

Chr.19:18856960 on build GRCh38
Cytoband
19p13.11
Assay ID Hs01202983_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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  • Genomic Map
  • Assay Details
  • More Information

Genomic Map

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Assay Details

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:

Within Exon 14
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
UPF1 NM_001297549.1 14 2216 NP_001284478.1
NM_002911.3 14 2183 NP_002902.2
XM_017027105.1 14 2249 XP_016882594.1
XM_017027106.1 14 2216 XP_016882595.1
AF074016.1 14 2135 AAC26788.1
BC039817.1 14 2180 AAH39817.1
D86988.1 14 2150
U59323.1 14 2083 AAC51140.1
U65533.1 14 2139 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 HOMER3 GDF1 CERS1 COPE UPF1 DDX49 LOC102724360
nsv1151217 Chr.19:18627369 - 19284914 on Build GRCh38 Deletion BORCS8-MEF2B NR2C2AP SUGP2 HAPLN4 CRTC1 CERS1 SUGP1 DDX49 NCAN KLHL26 SLC25A42 MEF2B COMP HOMER3 GDF1 TMEM161A ARMC6 COPE TM6SF2 UPF1 BORCS8 RFXANK LOC102724360
nsv833777 Chr.19:18765126 - 18920267 on Build GRCh38 Loss COMP GDF1 CRTC1 CERS1 COPE UPF1 DDX49

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More Information


Set Membership:

Intragenic Exonic DGV Variation

Gene Ontology Categories:

Function(s) 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
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

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