Assay Details
Target Gene Details
Entrez Gene ID: | 8924 |
Gene Name: | HECT and RLD domain containing E3 ubiquitin protein ligase 2 |
Gene Aliases: |
D15F37S1, MRT38, SHEP1, jdf2, p528 |
Location: |
Chr.15:28111037-28322173 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 67 - Exon 68 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HERC2 | NM_004667.5 | NP_004658.3 | ||
XM_005268276.4 | XP_005268333.1 | |||
XM_006720726.3 | XP_006720789.1 | |||
XM_006720727.3 | XP_006720790.1 | |||
XM_011522131.2 | XP_011520433.1 | |||
XM_011522133.2 | XP_011520435.1 | |||
XM_017022695.1 | XP_016878184.1 | |||
XM_017022696.1 | XP_016878185.1 | |||
XM_017022697.1 | XP_016878186.1 | |||
XM_017022698.1 | XP_016878187.1 | |||
AF071172.3 | AAD08657.1 | |||
BC148318.2 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3635988 | Chr.15:28098445 - 28194723 on Build GRCh38 | Gain | HERC2 OCA2 |
esv2760021 | Chr.15:28167321 - 28719643 on Build GRCh38 | Gain+Loss | HERC2 LOC100132202 HERC2P9 HERC2P11 LOC645202 GOLGA8G GOLGA8F MIR4509-2 MIR4509-3 LOC101929047 GOLGA8M |
esv3635991 | Chr.15:28132541 - 28198997 on Build GRCh38 | Gain | HERC2 |
nsv428299 | Chr.15:28042424 - 28817373 on Build GRCh38 | Loss | HERC2 LOC100132202 LOC645202 GOLGA8G MIR4509-3 WHAMMP2 LOC101929047 PDCD6IPP2 HERC2P9 HERC2P11 GOLGA8F MIR4509-2 OCA2 GOLGA8M LOC100289656 |
nsv568663 | Chr.15:27783102 - 28176880 on Build GRCh38 | Loss | HERC2 OCA2 |
esv2674813 | Chr.15:28174207 - 28679277 on Build GRCh38 | Deletion | HERC2 LOC100132202 HERC2P9 HERC2P11 LOC645202 GOLGA8G GOLGA8F MIR4509-2 MIR4509-3 LOC101929047 |
nsv1039684 | Chr.15:28080438 - 28315658 on Build GRCh38 | Gain | HERC2 OCA2 |
nsv1052131 | Chr.15:27932591 - 28460005 on Build GRCh38 | Gain | HERC2 LOC645202 GOLGA8F MIR4509-2 OCA2 |
nsv1038472 | Chr.15:27647423 - 28256473 on Build GRCh38 | Gain | HERC2 OCA2 |
nsv568662 | Chr.15:27726493 - 29056123 on Build GRCh38 | Gain | HERC2 LOC100132202 LOC645202 GOLGA8G MIR4509-3 WHAMMP2 LOC101929047 APBA2 GOLGA6L7P PDCD6IPP2 HERC2P9 HERC2P11 GOLGA8F MIR4509-2 OCA2 GOLGA8M LOC100289656 LOC107984752 |
dgv2490n100 | Chr.15:28110984 - 28203495 on Build GRCh38 | Gain | HERC2 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |