Assay Details
Target Gene Details
Entrez Gene ID: | 529 |
Gene Name: | ATPase H+ transporting V1 subunit E1 |
Gene Aliases: |
ATP6E, ATP6E2, ATP6V1E, P31, Vma4 |
Location: |
Chr.22:17592136-17628822 on Build GRCh38 |
Assay Gene Location: | Overlaps - Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ATP6V1E1 | NM_001039366.1 | NP_001034455.1 | ||
NM_001039367.1 | NP_001034456.1 | |||
NM_001696.3 | NP_001687.1 | |||
CK005516.1 |
Target Gene Details
Entrez Gene ID: | 23786 |
Gene Name: | BCL2 like 13 |
Gene Aliases: |
BCL-RAMBO, Bcl2-L-13, MIL1 |
Location: |
Chr.22:17628855-17730855 on Build GRCh38 |
Assay Gene Location: | Overlaps - Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
BCL2L13 | XM_011546119.1 | XP_011544421.1 | ||
XM_011546120.1 | XP_011544422.1 | |||
XM_011546121.2 | XP_011544423.1 | |||
XM_017028725.1 | XP_016884214.1 | |||
XM_017028726.1 | XP_016884215.1 | |||
XM_017028728.1 | XP_016884217.1 | |||
XM_017028731.1 | XP_016884220.1 | |||
XM_017028734.1 | XP_016884223.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv9871 | Chr.22:17545048 - 17683541 on Build GRCh38 | Loss | ATP6V1E1 SLC25A18 LOC101929372 CECR2 BCL2L13 |
nsv1065055 | Chr.22:17559085 - 17632626 on Build GRCh38 | Gain | ATP6V1E1 SLC25A18 LOC101929372 BCL2L13 |
nsv526826 | Chr.22:17411511 - 17836413 on Build GRCh38 | Gain | ATP6V1E1 MIR3198-1 LINC00528 SLC25A18 BID LOC101929372 MICAL3 CECR2 BCL2L13 |
esv3893429 | Chr.22:17600825 - 17678777 on Build GRCh38 | Gain | ATP6V1E1 BCL2L13 |
esv3893428 | Chr.22:17578563 - 18040448 on Build GRCh38 | Loss | ATP6V1E1 FLJ41941 MIR3198-1 LINC00528 SLC25A18 BID LOC101929372 MICAL3 MIR648 BCL2L13 |
dgv4465n100 | Chr.22:17577691 - 17706530 on Build GRCh38 | Gain | ATP6V1E1 SLC25A18 LOC101929372 BCL2L13 |
nsv428385 | Chr.22:17491941 - 18886703 on Build GRCh38 | Gain+Loss | TMEM191B LOC642643 RIMBP3 LOC102725072 MIR648 USP18 LOC100996432 FAM230A LOC100996401 CECR2 GGT3P PEX26 ATP6V1E1 FLJ41941 SLC25A18 LOC101929372 MICAL3 LOC729461 PI4KAP1 MIR3198-1 LINC00528 BID TUBA8 BCL2L13 LOC100996415 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |