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 | 623 | NP_001278358.1 | |
NM_001291430.1 | 3 | 476 | NP_001278359.1 | |
NM_001291431.1 | NP_001278360.1 | |||
NM_004324.3 | 5 | 675 | 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 | 488 | ||
CN281003.1 | ||||
HQ889830.1 | 3 | 407 | ||
JX524562.1 | ||||
KF830846.1 | ||||
KF830847.1 | ||||
KF830848.1 | ||||
L22473.1 | AAA03619.1 | |||
L22474.1 | 5 | 606 | AAA03620.1 | |
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 | MIR6800 SNAR-A8 SPHK2 PLA2G4C FCGRT SNAR-C5 AP2A1 CCDC114 CABP5 SNORD34 CPT1C TSKS DBP AKT1S1 SNAR-A10 SNORD32A PTOV1-AS2 ALDH16A1 GYS1 NUCB1-AS1 SNAR-A1 CGB3 KCNA7 TBC1D17 NOSIP TULP2 LIG1 FAM83E BAX MIR6798 CARD8-AS1 RRAS SNAR-A12 ZNF473 SNAR-B1 CGB5 C19orf68 PRRG2 PTOV1 PPP1R15A RPL13A SNORD33 SEC1P CCDC155 ELSPBP1 MIR4751 CYTH2 SNAR-A6 C19orf73 FUT2 LOC101928295 LIN7B GFY VRK3 EMP3 RPL18 TMEM143 CGB8 DKKL1 SNAR-A9 SNAR-A3 MIR4749 TRPM4 FUT1 SNAR-A5 PIH1D1 SPACA4 TEAD2 SNORD35A NTN5 SNAR-C3 RUVBL2 HRC GRWD1 CD37 PTH2 MIR150 MIR4324 LOC100287477 BCL2L12 PLA2G4C-AS1 SNAR-A2 PRR12 SCAF1 CGB1 FUZ CGB2 KDELR1 MIR6799 FTL CGB7 SNAR-A11 MIR5088 PLEKHA4 SNAR-A7 LOC101059948 SNAR-D CA11 SNAR-A14 DHDH PPFIA3 LMTK3 SIGLEC16 PNKP FGF21 SIGLEC11 SNRNP70 GRIN2D SLC17A7 NUP62 LOC105372430 PTOV1-AS1 SNORD35B NTF4 RPS11 IL4I1 SNAR-C4 MED25 HSD17B14 SNAR-B2 MAMSTR BCAT2 IRF3 SNAR-G1 CARD8 ATF5 SNAR-C1 FLT3LG MIR4750 BSPH1 KCNJ14 LOC105447645 SULT2B1 SNAR-A13 IZUMO1 RASIP1 SNAR-C2 ADM5 PRMT1 ZNF114 SLC6A16 NUCB1 SNAR-A4 SYNGR4 FLJ26850 RCN3 LHB SNAR-G2 |
dgv3618n100 | Chr.19:48948950 - 49021211 on Build GRCh38 | Gain | GYS1 BAX LOC101059948 MIR6798 RUVBL2 LHB FTL |
nsv833857 | Chr.19:48914476 - 49146320 on Build GRCh38 | Loss | GYS1 BAX NUCB1-AS1 LOC101059948 NTF4 MIR6798 C19orf73 RUVBL2 CGB3 KCNA7 LIN7B DHDH PPFIA3 NUCB1 SNAR-G1 CGB8 CGB1 CGB5 CGB2 SNRNP70 LHB SNAR-G2 FTL CGB7 |
nsv953598 | Chr.19:48957644 - 49085143 on Build GRCh38 | Deletion | GYS1 BAX LOC101059948 NTF4 MIR6798 RUVBL2 CGB3 KCNA7 SNAR-G1 CGB8 CGB1 CGB5 CGB2 SNRNP70 LHB SNAR-G2 FTL CGB7 |
nsv833856 | Chr.19:48847866 - 48986483 on Build GRCh38 | Loss | GYS1 BAX NUCB1-AS1 PLEKHA4 TULP2 PPP1R15A DHDH FTL NUCB1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |