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 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
UPF1 | NM_001297549.1 | 2 | 560 | NP_001284478.1 |
NM_002911.3 | 2 | 560 | NP_002902.2 | |
XM_017027105.1 | 2 | 569 | XP_016882594.1 | |
XM_017027106.1 | 2 | 569 | XP_016882595.1 | |
AF074016.1 | 2 | 512 | AAC26788.1 | |
BC039817.1 | 2 | 557 | AAH39817.1 | |
BX331580.2 | 2 | 564 | ||
BX364728.2 | 2 | 539 | ||
D86988.1 | 2 | 494 | ||
U59323.1 | 2 | 460 | AAC51140.1 | |
U65533.1 | 2 | 516 | 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 | BORCS8-MEF2B KLHL26 RFXANK NCAN CRTC1 DDX49 LOC102724360 CERS1 ARMC6 HOMER3 MEF2B HAPLN4 BORCS8 SUGP1 GDF1 TM6SF2 NR2C2AP SLC25A42 TMEM161A UPF1 COMP COPE SUGP2 |
nsv833777 | Chr.19:18765126 - 18920267 on Build GRCh38 | Loss | CRTC1 DDX49 CERS1 UPF1 COMP COPE GDF1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |