Assay Details
Target Gene Details
Entrez Gene ID: | 5163 |
Gene Name: | pyruvate dehydrogenase kinase 1 |
Gene Aliases: |
- |
Location: |
Chr.2:172555373-172672693 on Build GRCh38 |
Assay Gene Location: | Within Exon 16 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PDK1 | NM_001278549.1 | 12 | 1540 | NP_001265478.1 |
NM_002610.4 | 11 | 1480 | NP_002601.1 | |
NR_103729.1 | 11 | 1480 | ||
NR_103731.1 | 11 | 1449 | ||
XM_006712595.3 | 9 | 805 | XP_006712658.1 | |
XM_011511343.2 | 12 | 1302 | XP_011509645.1 | |
XM_011511344.2 | 12 | 1187 | XP_011509646.1 | |
XM_011511345.2 | 11 | 1242 | XP_011509647.1 | |
XM_011511347.2 | 12 | 1187 | XP_011509649.1 | |
AK294194.1 | 12 | 1276 | ||
AK302321.1 | 11 | 1450 | ||
AK304388.1 | 12 | 1412 | ||
AK312700.1 | ||||
BC039158.1 | 11 | 1341 | AAH39158.1 | |
DQ234350.1 | ABB29979.1 | |||
L42450.1 | 11 | 1422 | AAC42009.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv3035 | Chr.2:172554330 - 172599173 on Build GRCh38 | Deletion | PDK1 |
nsv583665 | Chr.2:172595912 - 172778359 on Build GRCh38 | Gain | RAPGEF4 RAPGEF4-AS1 PDK1 |
esv2760591 | Chr.2:172532177 - 172854792 on Build GRCh38 | Gain | RAPGEF4 RAPGEF4-AS1 PDK1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |