Assay Details
Target Gene Details
Entrez Gene ID: | 55709 |
Gene Name: | kelch repeat and BTB domain containing 4 |
Gene Aliases: |
BKLHD4, HSPC252 |
Location: |
Chr.11:47572197-47579015 on Build GRCh38 |
Assay Gene Location: | Within Exon 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
KBTBD4 | NM_001318716.1 | 4 | 1695 | NP_001305645.1 |
NM_001318717.1 | 4 | 1616 | NP_001305646.1 | |
NM_001318718.1 | 4 | 1596 | NP_001305647.1 | |
NM_001318719.1 | 4 | 1574 | NP_001305648.1 | |
NM_001318720.1 | 4 | 1568 | NP_001305649.1 | |
NM_001318721.1 | 4 | 1543 | NP_001305650.1 | |
NM_001318722.1 | 4 | 1564 | NP_001305651.1 | |
NM_001318723.1 | 4 | 1648 | NP_001305652.1 | |
NM_001318724.1 | 4 | 1648 | NP_001305653.1 | |
NM_001318725.1 | 4 | 1551 | NP_001305654.1 | |
NM_016506.6 | 4 | 1652 | NP_057590.3 | |
NM_018095.5 | 4 | 1547 | NP_060565.4 | |
XM_017018009.1 | 4 | 1531 | XP_016873498.1 | |
AK001312.1 | 4 | 1501 | BAA91616.1 | |
AK001749.1 | 4 | 1588 | BAA91880.1 | |
AK091607.1 | 3 | 2225 | ||
AK222550.1 | 4 | 1498 | BAD96270.1 | |
AK222985.1 | ||||
AK225062.1 | 4 | 1498 | ||
AL713735.1 | 3 | 1477 | CAD28521.1 | |
BC002736.2 | 4 | 1589 | AAH02736.1 | |
CR457270.1 | 3 | 1435 | CAG33551.1 |
Target Gene Details
Entrez Gene ID: | 114971 |
Gene Name: | protein tyrosine phosphatase, mitochondrial 1 |
Gene Aliases: |
DUSP23, MOSP, PLIP, PNAS-129 |
Location: |
Chr.11:47565430-47573461 on Build GRCh38 |
Assay Gene Location: | Within Exon 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PTPMT1 | NM_001143984.1 | 2 | 2139 | NP_001137456.1 |
NM_175732.2 | 4 | 2222 | NP_783859.1 | |
BC014048.1 | 3 | 1868 | AAH14048.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv832142 | Chr.11:47496403 - 47659758 on Build GRCh38 | Loss | NDUFS3 FAM180B PTPMT1 CELF1 KBTBD4 C1QTNF4 MTCH2 AGBL2 |
nsv509405 | Chr.11:47571038 - 47663104 on Build GRCh38 | Insertion | NDUFS3 FAM180B PTPMT1 KBTBD4 C1QTNF4 MTCH2 AGBL2 |
nsv825872 | Chr.11:47543873 - 47638778 on Build GRCh38 | Gain | NDUFS3 FAM180B PTPMT1 CELF1 KBTBD4 C1QTNF4 MTCH2 |
nsv314 | Chr.11:47540012 - 47584704 on Build GRCh38 | Deletion | NDUFS3 PTPMT1 CELF1 KBTBD4 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |