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 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
BAX | NM_001291428.1 | 3 | 244 | NP_001278357.1 |
NM_001291429.1 | 2 | 192 | NP_001278358.1 | |
NM_001291430.1 | NP_001278359.1 | |||
NM_001291431.1 | NP_001278360.1 | |||
NM_004324.3 | 3 | 244 | NP_004315.1 | |
NM_138761.3 | 3 | 244 | NP_620116.1 | |
NM_138763.3 | NP_620118.1 | |||
NM_138764.4 | 3 | 244 | NP_620119.2 | |
NR_027882.1 | 3 | 244 | ||
XM_017027077.1 | 3 | 253 | XP_016882566.1 | |
AF007826.1 | 3 | 175 | AAD22706.1 | |
AF247393.1 | 3 | 175 | AAF71267.1 | |
AF250190.1 | AAF82094.1 | |||
AJ417988.1 | 2 | 154 | CAD10744.1 | |
AJ586909.1 | CAE52909.1 | |||
AJ586910.1 | 2 | 110 | CAE52910.1 | |
AK291076.1 | 3 | 224 | ||
BC014175.2 | 3 | 227 | AAH14175.1 | |
BE396495.1 | 3 | 244 | ||
BM706954.1 | 1 | 57 | ||
CN281003.1 | 3 | 197 | ||
HQ889830.1 | ||||
JX524562.1 | 2 | 125 | ||
KF830846.1 | 2 | 123 | ||
KF830847.1 | 2 | 125 | ||
KF830848.1 | 2 | 123 | ||
L22473.1 | 3 | 175 | AAA03619.1 | |
L22474.1 | 3 | 175 | AAA03620.1 | |
L22475.1 | AAA03621.1 | |||
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 | CCDC155 SNAR-A3 SNAR-C2 NUP62 CGB3 KCNA7 PPP1R15A FUT2 ALDH16A1 FLJ26850 NUCB1 MIR6799 NTF4 SNORD33 FUZ SNAR-A6 SIGLEC11 NUCB1-AS1 SCAF1 LOC105447645 C19orf73 CCDC114 LIN7B NOSIP SNORD32A MIR6800 TEAD2 CABP5 LOC101059948 SNAR-A11 GFY KDELR1 MIR4750 PRR12 BCL2L12 MIR4749 SNAR-G1 TMEM143 FCGRT SNAR-C1 DKKL1 DHDH IL4I1 RUVBL2 CARD8 LOC101928295 SNAR-B2 ELSPBP1 FTL CGB8 SNAR-A12 TULP2 EMP3 SNAR-C3 CGB2 LHB SNAR-B1 MIR150 RPS11 ZNF114 NTN5 SNORD35B AKT1S1 CD37 MED25 PNKP RRAS SNAR-C4 CPT1C ZNF473 SNORD35A LIG1 FLT3LG CGB1 IZUMO1 SULT2B1 LOC105372430 PLA2G4C BSPH1 HSD17B14 CGB5 RPL13A SNAR-A1 MIR6798 GYS1 SNRNP70 BCAT2 PPFIA3 VRK3 SEC1P FGF21 FUT1 SNAR-A13 SLC6A16 PTH2 SNORD34 RPL18 CA11 SNAR-G2 SPHK2 KCNJ14 TRPM4 BAX SNAR-A10 MAMSTR IRF3 MIR4324 SIGLEC16 TBC1D17 SLC17A7 GRIN2D SNAR-A7 DBP C19orf68 SNAR-A8 PTOV1-AS1 FAM83E LOC100287477 CYTH2 MIR4751 PTOV1-AS2 HRC ATF5 SNAR-C5 SNAR-A2 PLEKHA4 CGB7 TSKS SNAR-A14 RASIP1 SPACA4 GRWD1 SNAR-A9 ADM5 AP2A1 RCN3 PTOV1 SNAR-A5 LMTK3 PLA2G4C-AS1 PRMT1 SYNGR4 SNAR-A4 PRRG2 MIR5088 CARD8-AS1 SNAR-D PIH1D1 |
dgv3618n100 | Chr.19:48948950 - 49021211 on Build GRCh38 | Gain | MIR6798 RUVBL2 LHB GYS1 BAX LOC101059948 FTL |
nsv833857 | Chr.19:48914476 - 49146320 on Build GRCh38 | Loss | NUCB1-AS1 MIR6798 SNAR-G2 DHDH C19orf73 RUVBL2 LIN7B GYS1 SNRNP70 BAX PPFIA3 LOC101059948 FTL CGB3 CGB8 KCNA7 CGB1 NUCB1 CGB2 LHB NTF4 CGB7 CGB5 SNAR-G1 |
nsv833856 | Chr.19:48847866 - 48986483 on Build GRCh38 | Loss | NUCB1-AS1 PPP1R15A TULP2 DHDH NUCB1 GYS1 PLEKHA4 BAX FTL |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |