Assay Details
Target Gene Details
Entrez Gene ID: | 57654 |
Gene Name: | UV stimulated scaffold protein A |
Gene Aliases: |
KIAA1530, UVSS3 |
Location: |
Chr.4:1345662-1388049 on Build GRCh38 |
Assay Gene Location: | Within Exon 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
UVSSA | NM_001317934.1 | 3 | 507 | NP_001304863.1 |
NM_001317935.1 | 3 | 495 | NP_001304864.1 | |
NM_020894.3 | 3 | 608 | NP_065945.2 | |
XM_017008490.1 | 3 | 329 | XP_016863979.1 | |
XM_017008491.1 | 3 | 421 | XP_016863980.1 | |
XM_017008492.1 | 3 | 419 | XP_016863981.1 | |
XM_017008493.1 | 3 | 295 | XP_016863982.1 | |
XM_017008494.1 | 3 | 180 | XP_016863983.1 | |
XM_017008496.1 | 3 | 932 | XP_016863985.1 | |
XM_017008497.1 | 3 | 931 | XP_016863986.1 | |
XM_017008498.1 | 2 | 163 | XP_016863987.1 | |
XM_017008499.1 | 3 | 436 | XP_016863988.1 | |
AB040963.1 | 3 | 608 | ||
BC110331.1 | 3 | 507 | AAI10332.1 | |
BC140901.1 | 3 | 345 | ||
HY104489.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv822425 | Chr.4:546316 - 1420011 on Build GRCh38 | Loss | IDUA LOC100129917 TMED11P LOC101928548 LOC105374344 CPLX1 TMEM175 NKX1-1 DGKQ RNF212 MFSD7 MYL5 UVSSA CTBP1 LOC100130872 ATP5I CTBP1-AS MAEA PDE6B LOC101928521 CRIPAK SPON2 SLC26A1 FGFRL1 CTBP1-AS2 LOC107986211 GAK PCGF3 |
esv3569247 | Chr.4:1340902 - 1353008 on Build GRCh38 | Loss | UVSSA |
nsv593278 | Chr.4:1165892 - 1421910 on Build GRCh38 | Loss | CTBP1-AS MAEA NKX1-1 CRIPAK UVSSA SPON2 LOC101928548 CTBP1 LOC100130872 CTBP1-AS2 |
nsv593301 | Chr.4:1306289 - 1358897 on Build GRCh38 | Loss | MAEA UVSSA |
nsv593302 | Chr.4:1344830 - 1420896 on Build GRCh38 | Loss | NKX1-1 CRIPAK UVSSA |
nsv508988 | Chr.4:1190955 - 1358870 on Build GRCh38 | Insertion | CTBP1-AS MAEA UVSSA SPON2 LOC101928548 CTBP1 LOC100130872 CTBP1-AS2 |
nsv593281 | Chr.4:1209477 - 1358897 on Build GRCh38 | Loss | CTBP1-AS MAEA UVSSA CTBP1 CTBP1-AS2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |