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: | Overlaps Exon 15 - Intron 15 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
UPF1 | NM_001297549.1 | NP_001284478.1 | ||
NM_002911.3 | NP_002902.2 | |||
XM_017027105.1 | XP_016882594.1 | |||
XM_017027106.1 | XP_016882595.1 | |||
AF074016.1 | AAC26788.1 | |||
BC039817.1 | AAH39817.1 | |||
D86988.1 | ||||
U59323.1 | AAC51140.1 | |||
U65533.1 | 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 | COPE HOMER3 GDF1 DDX49 CERS1 LOC102724360 UPF1 |
nsv1151217 | Chr.19:18627369 - 19284914 on Build GRCh38 | Deletion | BORCS8 COPE HOMER3 DDX49 TM6SF2 SUGP2 RFXANK SUGP1 KLHL26 BORCS8-MEF2B GDF1 NCAN MEF2B TMEM161A CERS1 SLC25A42 CRTC1 ARMC6 LOC102724360 NR2C2AP HAPLN4 COMP UPF1 |
nsv833777 | Chr.19:18765126 - 18920267 on Build GRCh38 | Loss | COPE GDF1 DDX49 CERS1 CRTC1 COMP UPF1 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |