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 | 439 | NP_001278358.1 | |
NM_001291430.1 | 3 | 292 | NP_001278359.1 | |
NM_001291431.1 | NP_001278360.1 | |||
NM_004324.3 | 5 | 491 | 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 | |||
AJ586909.1 | 3 | 210 | CAE52909.1 | |
AJ586910.1 | 4 | 357 | CAE52910.1 | |
AK291076.1 | ||||
BC014175.2 | AAH14175.1 | |||
BM706954.1 | 3 | 304 | ||
CN281003.1 | ||||
HQ889830.1 | 3 | 223 | ||
JX524562.1 | ||||
KF830846.1 | ||||
KF830847.1 | ||||
KF830848.1 | ||||
L22473.1 | AAA03619.1 | |||
L22474.1 | 5 | 422 | AAA03620.1 | |
T29044.1 | 2 | 159 | ||
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 | SNAR-G2 SNAR-A4 FLT3LG VRK3 TSKS CARD8-AS1 CGB8 FGF21 MIR6798 SNAR-A1 LIN7B CCDC114 RPS11 TMEM143 CCDC155 SNAR-C3 ALDH16A1 DBP FLJ26850 MIR4751 MED25 SNRNP70 LMTK3 ZNF114 SNAR-A5 LOC101059948 TRPM4 LOC105447645 GFY PNKP PPFIA3 SNAR-A8 SNAR-B1 PLA2G4C-AS1 PIH1D1 HSD17B14 MIR4324 SNAR-C4 GRWD1 LOC105372430 BCAT2 SNAR-A13 PRMT1 SNAR-B2 ELSPBP1 LIG1 MIR4749 GYS1 PLEKHA4 MAMSTR SPHK2 DKKL1 SNORD35A SNORD32A SNORD34 FAM83E TULP2 CYTH2 LOC100287477 SNAR-A6 PPP1R15A SIGLEC16 MIR150 SULT2B1 AP2A1 HRC TBC1D17 C19orf68 ATF5 KDELR1 RUVBL2 CABP5 SNAR-G1 PTOV1 KCNA7 CGB2 FCGRT SNAR-C5 CGB1 SNAR-C2 GRIN2D SNAR-C1 NTN5 SNAR-A9 DHDH NUP62 MIR6799 SNORD35B RPL13A EMP3 SCAF1 PRRG2 PTOV1-AS2 SNAR-D FUT2 SYNGR4 RPL18 SEC1P SLC17A7 SNAR-A11 ADM5 SPACA4 IRF3 CGB5 CGB7 LHB BCL2L12 FUZ SNAR-A10 BAX RCN3 NUCB1 CARD8 MIR4750 SNAR-A7 RASIP1 MIR6800 KCNJ14 AKT1S1 IZUMO1 SIGLEC11 CD37 PRR12 NTF4 MIR5088 CPT1C SNORD33 CGB3 PLA2G4C PTOV1-AS1 TEAD2 RRAS CA11 NUCB1-AS1 BSPH1 ZNF473 LOC101928295 IL4I1 C19orf73 NOSIP SNAR-A14 FTL SNAR-A3 SNAR-A12 SNAR-A2 FUT1 PTH2 SLC6A16 |
dgv3618n100 | Chr.19:48948950 - 49021211 on Build GRCh38 | Gain | BAX RUVBL2 MIR6798 LHB GYS1 FTL LOC101059948 |
nsv833857 | Chr.19:48914476 - 49146320 on Build GRCh38 | Loss | SNAR-G2 BAX NUCB1-AS1 RUVBL2 SNRNP70 NUCB1 C19orf73 SNAR-G1 KCNA7 CGB2 CGB1 FTL LOC101059948 CGB8 DHDH PPFIA3 NTF4 MIR6798 LIN7B CGB3 CGB5 CGB7 LHB GYS1 |
nsv953598 | Chr.19:48957644 - 49085143 on Build GRCh38 | Deletion | SNAR-G2 BAX RUVBL2 SNRNP70 SNAR-G1 KCNA7 CGB2 CGB1 FTL LOC101059948 CGB8 NTF4 MIR6798 CGB3 CGB5 CGB7 LHB GYS1 |
nsv833856 | Chr.19:48847866 - 48986483 on Build GRCh38 | Loss | DHDH PPP1R15A BAX NUCB1-AS1 NUCB1 GYS1 PLEKHA4 FTL TULP2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |