Assay Details
Target Gene Details
Entrez Gene ID: | 5476 |
Gene Name: | cathepsin A |
Gene Aliases: |
GLB2, GSL, NGBE, PPCA, PPGB |
Location: |
Chr.20:45890144-45898820 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CTSA | NM_000308.3 | 1 | 618 | NP_000299.2 |
NM_001127695.2 | 1 | 618 | NP_001121167.1 | |
NM_001167594.2 | 1 | 618 | NP_001161066.1 | |
NR_133656.1 | 1 | 618 | ||
AK172808.1 | 1 | 618 |
Target Gene Details
Entrez Gene ID: | 140825 |
Gene Name: | neuralized E3 ubiquitin protein ligase 2 |
Gene Aliases: |
C20orf163, OZZ, OZZ-E3 |
Location: |
Chr.20:45888472-45891287 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
NEURL2 | NM_001278535.1 | 1 | 527 | NP_001265464.1 |
NM_080749.3 | 1 | 527 | NP_542787.1 | |
AJ295985.1 | 1 | 232 | CAC82498.1 | |
AK054821.1 | 1 | 527 | BAB70810.1 | |
BC074737.2 | 1 | 257 | AAH74737.1 | |
BC105935.1 | 1 | 417 | AAI05936.1 | |
BC107485.1 | 1 | 417 | AAI07486.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv482069 | Chr.20:45888628 - 45891262 on Build GRCh38 | Gain | NEURL2 CTSA |
nsv833991 | Chr.20:45885631 - 46068708 on Build GRCh38 | Loss | SLC12A5 PCIF1 ZNF335 PLTP MMP9 NEURL2 LOC107985388 NCOA5 SPATA25 CTSA |
nsv517296 | Chr.20:45854586 - 45965936 on Build GRCh38 | Loss | PCIF1 ZNF335 PLTP NEURL2 LOC107985388 ACOT8 SPATA25 CTSA ZSWIM1 ZSWIM3 |
nsv833990 | Chr.20:45771510 - 45946844 on Build GRCh38 | Loss | PCIF1 PLTP DNTTIP1 TNNC2 UBE2C ACOT8 WFDC3 SPATA25 CTSA ZSWIM1 SNX21 NEURL2 LOC107985388 ZSWIM3 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |