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 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
BAX | NM_001291428.1 | 6 | 594 | NP_001278357.1 |
NM_001291431.1 | NP_001278360.1 | |||
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 | |||
BM673184.1 | 1 | 175 | ||
CN281003.1 | ||||
JX524562.1 | ||||
KF830846.1 | ||||
KF830847.1 | 5 | 474 | ||
KF830848.1 | 5 | 474 | ||
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 | SULT2B1 PPP1R15A SNORD35B SNAR-G1 HSD17B14 LHB CA11 CCDC114 FLT3LG SNAR-A11 SIGLEC11 SNAR-A9 VRK3 MAMSTR PTOV1-AS2 NOSIP BCAT2 SNAR-A1 SNAR-A7 LOC101059948 CCDC155 ZNF473 GYS1 SYNGR4 FAM83E PPFIA3 SNRNP70 RPL18 SNAR-A6 LMTK3 MIR5088 SPHK2 PLA2G4C-AS1 SNAR-C5 NUP62 DBP SNAR-A3 KCNJ14 PTOV1-AS1 SNAR-A4 GRWD1 MIR6800 TSKS RCN3 SNAR-A10 ATF5 SLC17A7 KDELR1 IZUMO1 PIH1D1 LOC100287477 CARD8 PRMT1 DKKL1 CPT1C SNORD32A PRRG2 C19orf73 CYTH2 SNAR-A13 TEAD2 SNORD35A RRAS BAX BCL2L12 TULP2 SNAR-C1 FGF21 LIG1 IL4I1 SNAR-C2 AKT1S1 SNAR-A14 LIN7B PNKP SNORD33 SNAR-A5 SNORD34 DHDH ELSPBP1 SNAR-A8 FUT2 PTOV1 PTH2 LOC101928295 ALDH16A1 CGB5 PRR12 NTF4 MIR4324 SIGLEC16 SCAF1 SEC1P RASIP1 MIR4749 ZNF114 CARD8-AS1 LOC105447645 SNAR-C4 PLA2G4C NUCB1-AS1 BSPH1 C19orf68 TBC1D17 AP2A1 TRPM4 CGB8 MED25 FCGRT CGB2 SPACA4 PLEKHA4 RPL13A ADM5 SNAR-C3 SNAR-D EMP3 NUCB1 FLJ26850 GFY SLC6A16 TMEM143 SNAR-B2 FUT1 FTL MIR6799 IRF3 MIR6798 RPS11 CGB3 CGB1 NTN5 GRIN2D SNAR-B1 SNAR-G2 SNAR-A12 CABP5 LOC105372430 KCNA7 SNAR-A2 MIR4751 CGB7 MIR4750 RUVBL2 FUZ MIR150 HRC CD37 |
dgv3618n100 | Chr.19:48948950 - 49021211 on Build GRCh38 | Gain | MIR6798 LHB BAX RUVBL2 LOC101059948 GYS1 FTL |
nsv833857 | Chr.19:48914476 - 49146320 on Build GRCh38 | Loss | SNAR-G1 LHB SNAR-G2 PPFIA3 NUCB1-AS1 SNRNP70 KCNA7 DHDH CGB8 CGB7 BAX RUVBL2 FTL CGB2 MIR6798 CGB5 NTF4 CGB3 CGB1 LIN7B NUCB1 LOC101059948 GYS1 C19orf73 |
nsv953598 | Chr.19:48957644 - 49085143 on Build GRCh38 | Deletion | SNAR-G1 LHB SNAR-G2 SNRNP70 KCNA7 CGB8 CGB7 BAX RUVBL2 FTL CGB2 MIR6798 CGB5 NTF4 CGB3 CGB1 LOC101059948 GYS1 |
nsv833856 | Chr.19:48847866 - 48986483 on Build GRCh38 | Loss | TULP2 PPP1R15A PLEKHA4 NUCB1-AS1 DHDH BAX NUCB1 GYS1 FTL |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |