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 10 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
UPF1 | NM_001297549.1 | 10 | 1621 | NP_001284478.1 |
NM_002911.3 | 10 | 1588 | NP_002902.2 | |
XM_017027105.1 | 10 | 1654 | XP_016882594.1 | |
XM_017027106.1 | 10 | 1621 | XP_016882595.1 | |
AF074016.1 | 10 | 1540 | AAC26788.1 | |
BC039817.1 | 10 | 1585 | AAH39817.1 | |
D86988.1 | 10 | 1555 | ||
U59323.1 | 10 | 1488 | AAC51140.1 | |
U65533.1 | 10 | 1544 | 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 | DDX49 LOC102724360 UPF1 COPE GDF1 CERS1 HOMER3 |
nsv1151217 | Chr.19:18627369 - 19284914 on Build GRCh38 | Deletion | SLC25A42 COMP NCAN SUGP2 LOC102724360 RFXANK UPF1 SUGP1 COPE NR2C2AP CERS1 KLHL26 HOMER3 DDX49 BORCS8 BORCS8-MEF2B ARMC6 HAPLN4 TM6SF2 TMEM161A GDF1 MEF2B CRTC1 |
nsv833777 | Chr.19:18765126 - 18920267 on Build GRCh38 | Loss | COMP DDX49 UPF1 COPE GDF1 CRTC1 CERS1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |