Assay Details
Target Gene Details
Entrez Gene ID: | 581 |
Gene Name: | BCL2 associated X, apoptosis regulator |
Gene Aliases: |
BCL2L4 |
Location: |
Chr.19:48954825-48961798 on Build GRCh38 |
Assay Gene Location: | Within Exon 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
BAX | NM_001291428.1 | NP_001278357.1 | ||
NM_001291429.1 | 4 | 782 | NP_001278358.1 | |
NM_001291430.1 | 3 | 635 | NP_001278359.1 | |
NM_001291431.1 | NP_001278360.1 | |||
NM_004324.3 | 5 | 834 | NP_004315.1 | |
NM_138761.3 | NP_620116.1 | |||
NM_138763.3 | NP_620118.1 | |||
NM_138764.4 | NP_620119.2 | |||
NR_027882.1 | ||||
XM_017027077.1 | XP_016882566.1 | |||
AF007826.1 | AAD22706.1 | |||
AF247393.1 | AAF71267.1 | |||
AF250190.1 | AAF82094.1 | |||
AI565203.1 | ||||
AJ417988.1 | CAD10744.1 | |||
AK291076.1 | ||||
BC014175.2 | AAH14175.1 | |||
BM706954.1 | 3 | 647 | ||
CN281003.1 | ||||
JX524562.1 | ||||
KF830846.1 | ||||
KF830847.1 | ||||
KF830848.1 | ||||
L22473.1 | AAA03619.1 | |||
U19599.1 | AAC50142.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv9739 | Chr.19:47901840 - 50143063 on Build GRCh38 | Gain+Loss | NUCB1-AS1 SNORD32A PPP1R15A BCAT2 MED25 ALDH16A1 SIGLEC16 KCNA7 CA11 SEC1P PLEKHA4 SNORD33 DHDH ZNF473 SNAR-D PRR12 LMTK3 CGB1 RPS11 SNAR-A13 MIR6798 TRPM4 NTF4 EMP3 CGB3 ELSPBP1 SIGLEC11 MAMSTR SNRNP70 NUCB1 FCGRT SNORD35A AKT1S1 SNAR-C3 HSD17B14 BCL2L12 FAM83E TEAD2 GYS1 SNORD35B DKKL1 FLJ26850 BAX SNAR-A6 PTH2 AP2A1 LOC101928295 PRMT1 NTN5 CGB7 CARD8 SNAR-C5 SNAR-A9 FGF21 LOC105372430 SNAR-A11 PTOV1-AS1 SNAR-B2 MIR6800 SPHK2 RUVBL2 PRRG2 SNAR-A3 CYTH2 SNAR-C4 SLC17A7 ZNF114 MIR150 FUT2 SNAR-G1 FLT3LG SNAR-A2 CGB2 RCN3 SNAR-G2 MIR4751 SNAR-A8 C19orf68 SNAR-A4 SNAR-A7 CPT1C CD37 SNAR-A14 TULP2 CARD8-AS1 PNKP LHB PTOV1-AS2 HRC GRWD1 SNAR-C1 SNAR-A5 IZUMO1 PLA2G4C GRIN2D ADM5 CCDC155 SLC6A16 RPL13A BSPH1 CCDC114 SNAR-C2 CGB8 LOC100287477 SNAR-A12 SCAF1 PLA2G4C-AS1 SNORD34 NUP62 FUT1 KDELR1 PIH1D1 IRF3 MIR5088 MIR4324 DBP SYNGR4 SULT2B1 NOSIP VRK3 MIR6799 LOC105447645 LOC101059948 SNAR-A10 C19orf73 MIR4750 PPFIA3 FUZ GFY CABP5 ATF5 PTOV1 TSKS MIR4749 SNAR-B1 KCNJ14 SNAR-A1 TBC1D17 RASIP1 FTL RPL18 CGB5 LIN7B SPACA4 TMEM143 RRAS LIG1 IL4I1 |
dgv3618n100 | Chr.19:48948950 - 49021211 on Build GRCh38 | Gain | LOC101059948 FTL BAX RUVBL2 LHB MIR6798 GYS1 |
nsv833857 | Chr.19:48914476 - 49146320 on Build GRCh38 | Loss | LOC101059948 CGB1 NUCB1-AS1 C19orf73 PPFIA3 SNAR-G1 CGB7 LHB MIR6798 CGB8 NTF4 CGB2 GYS1 CGB3 SNAR-G2 KCNA7 FTL CGB5 LIN7B SNRNP70 BAX NUCB1 RUVBL2 DHDH |
nsv953598 | Chr.19:48957644 - 49085143 on Build GRCh38 | Deletion | LOC101059948 CGB1 SNAR-G1 CGB7 LHB MIR6798 CGB8 NTF4 CGB2 GYS1 CGB3 SNAR-G2 KCNA7 FTL CGB5 SNRNP70 BAX RUVBL2 |
nsv833856 | Chr.19:48847866 - 48986483 on Build GRCh38 | Loss | FTL NUCB1-AS1 TULP2 BAX NUCB1 PPP1R15A PLEKHA4 DHDH GYS1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |