Assay Details
Target Gene Details
Entrez Gene ID: | 79650 |
Gene Name: | U6 snRNA biogenesis phosphodiesterase 1 |
Gene Aliases: |
C16orf57, HVSL1, Mpn1, PN, hUsb1 |
Location: |
Chr.16:57999600-58021623 on Build GRCh38 |
Assay Gene Location: | Within Exon 10 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
USB1 | NM_001195302.1 | 6 | 894 | NP_001182231.1 |
NM_024598.3 | 7 | 948 | NP_078874.2 | |
XM_005256144.3 | 7 | 823 | XP_005256201.1 | |
XM_011523328.2 | 7 | 924 | XP_011521630.1 | |
XM_011523329.2 | 7 | 806 | XP_011521631.1 | |
AK023216.1 | 7 | 920 | BAB14469.1 | |
AK126223.1 | 3 | 2555 | ||
AK293220.1 | 7 | 758 | ||
AK298473.1 | 8 | 795 | ||
AK303121.1 | 6 | 849 | ||
BC004415.1 | 7 | 884 | AAH04415.1 | |
BC006291.2 | 7 | 874 | AAH06291.1 | |
BC007774.2 | 7 | 878 | AAH07774.1 | |
BC021554.1 | 7 | 868 | AAH21554.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1063386 | Chr.16:57958821 - 58040306 on Build GRCh38 | Gain | ZNF319 CNGB1 MMP15 USB1 TEPP |
esv2714545 | Chr.16:58020273 - 58020604 on Build GRCh38 | Deletion | USB1 |
esv3638716 | Chr.16:58011317 - 58046443 on Build GRCh38 | Loss | MMP15 USB1 |
nsv572759 | Chr.16:57972385 - 58040306 on Build GRCh38 | Loss | ZNF319 MMP15 USB1 TEPP |
dgv525e214 | Chr.16:58007762 - 58046443 on Build GRCh38 | Gain | MMP15 USB1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |