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 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
UPF1 | NM_001297549.1 | 1 | 368 | NP_001284478.1 |
NM_002911.3 | 1 | 368 | NP_002902.2 | |
XM_017027105.1 | 1 | 377 | XP_016882594.1 | |
XM_017027106.1 | 1 | 377 | XP_016882595.1 | |
AF074016.1 | 1 | 320 | AAC26788.1 | |
BC039817.1 | 1 | 365 | AAH39817.1 | |
BX331580.2 | 1 | 368 | ||
BX364728.2 | 1 | 347 | ||
D86988.1 | 1 | 302 | ||
U59323.1 | 1 | 271 | AAC51140.1 | |
U65533.1 | 1 | 324 | AAC50771.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1151217 | Chr.19:18627369 - 19284914 on Build GRCh38 | Deletion | KLHL26 UPF1 NR2C2AP CRTC1 LOC102724360 COPE DDX49 COMP ARMC6 RFXANK TMEM161A HOMER3 SUGP2 TM6SF2 SLC25A42 CERS1 GDF1 SUGP1 BORCS8-MEF2B NCAN BORCS8 MEF2B HAPLN4 |
nsv833777 | Chr.19:18765126 - 18920267 on Build GRCh38 | Loss | UPF1 CRTC1 CERS1 GDF1 COPE DDX49 COMP |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |