Gene Symbol | Transcript Accession | Exon Location | Assay Location | Protein ID |
---|---|---|---|---|
UVSSA | NM_001317934.1 | 5 | 992 | NP_001304863.1 |
NM_001317935.1 | 5 | 980 | NP_001304864.1 | |
NM_020894.3 | 5 | 1093 | NP_065945.2 | |
XM_017008490.1 | 5 | 814 | XP_016863979.1 | |
XM_017008491.1 | 5 | 906 | XP_016863980.1 | |
XM_017008492.1 | 5 | 904 | XP_016863981.1 | |
XM_017008493.1 | 5 | 780 | XP_016863982.1 | |
XM_017008494.1 | 5 | 665 | XP_016863983.1 | |
XM_017008495.1 | 2 | 807 | XP_016863984.1 | |
XM_017008496.1 | 5 | 1417 | XP_016863985.1 | |
XM_017008497.1 | 5 | 1416 | XP_016863986.1 | |
XM_017008498.1 | 4 | 648 | XP_016863987.1 | |
XM_017008499.1 | 5 | 921 | XP_016863988.1 | |
AB040963.1 | 5 | 1093 | ||
BC110331.1 | 5 | 992 | AAI10332.1 | |
BC140901.1 | 5 | 830 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv822425 | Chr4:546316 - 1420011 on Build GRCh38 | Loss | CRIPAK MFSD7 CTBP1 PDE6B CTBP1-AS2 LOC101928548 CTBP1-AS NKX1-1 SPON2 LOC105374344 MAEA UVSSA MYL5 IDUA CPLX1 SLC26A1 RNF212 TMED11P LOC100130872 TMEM175 PCGF3 LOC100129917 LOC107986211 LOC101928521 GAK DGKQ FGFRL1 ATP5I |
nsv593278 | Chr4:1165892 - 1421910 on Build GRCh38 | Loss | CRIPAK MAEA CTBP1 CTBP1-AS2 UVSSA LOC100130872 LOC101928548 CTBP1-AS NKX1-1 SPON2 |
nsv593301 | Chr4:1306289 - 1358897 on Build GRCh38 | Loss | MAEA UVSSA |
nsv593302 | Chr4:1344830 - 1420896 on Build GRCh38 | Loss | CRIPAK UVSSA NKX1-1 |
nsv508988 | Chr4:1190955 - 1358870 on Build GRCh38 | Insertion | MAEA CTBP1 CTBP1-AS2 UVSSA LOC100130872 LOC101928548 CTBP1-AS SPON2 |
nsv593281 | Chr4:1209477 - 1358897 on Build GRCh38 | Loss | MAEA CTBP1 CTBP1-AS2 UVSSA CTBP1-AS |