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 | UPF1 DDX49 HOMER3 LOC102724360 CERS1 COPE GDF1 |
nsv1151217 | Chr.19:18627369 - 19284914 on Build GRCh38 | Deletion | UPF1 NCAN BORCS8 HOMER3 RFXANK HAPLN4 SUGP2 KLHL26 CRTC1 NR2C2AP SUGP1 BORCS8-MEF2B ARMC6 TMEM161A DDX49 LOC102724360 MEF2B CERS1 SLC25A42 COPE TM6SF2 GDF1 COMP |
nsv833777 | Chr.19:18765126 - 18920267 on Build GRCh38 | Loss | UPF1 CRTC1 DDX49 CERS1 COPE GDF1 COMP |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |