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 8 - Intron 8 |
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 |
---|---|---|---|
nsv1151217 | Chr.19:18627369 - 19284914 on Build GRCh38 | Deletion | ARMC6 TM6SF2 NCAN MEF2B COPE GDF1 SUGP2 BORCS8-MEF2B COMP HOMER3 CRTC1 HAPLN4 SLC25A42 KLHL26 LOC102724360 DDX49 RFXANK NR2C2AP BORCS8 SUGP1 CERS1 TMEM161A UPF1 |
nsv833777 | Chr.19:18765126 - 18920267 on Build GRCh38 | Loss | DDX49 COPE GDF1 COMP CERS1 CRTC1 UPF1 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |