Assay Details
Target Gene Details
Entrez Gene ID: | 375033 |
Gene Name: | platelet endothelial aggregation receptor 1 |
Gene Aliases: |
JEDI, MEGF12 |
Location: |
Chr.1:156893697-156916434 on Build GRCh38 |
Assay Gene Location: | Within Exon 16 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PEAR1 | NM_001080471.1 | 15 | 1989 | NP_001073940.1 |
XM_005245141.3 | 16 | 2182 | XP_005245198.1 | |
XM_011509510.2 | 16 | 2121 | XP_011507812.1 | |
XM_011509511.2 | 15 | 2077 | XP_011507813.1 | |
XM_011509512.2 | 15 | 2001 | XP_011507814.1 | |
XM_017001234.1 | 15 | 3247 | XP_016856723.1 | |
XM_017001235.1 | 15 | 3117 | XP_016856724.1 | |
XM_017001236.1 | 15 | 2084 | XP_016856725.1 | |
XM_017001237.1 | 16 | 2328 | XP_016856726.1 | |
XM_017001238.1 | 16 | 2267 | XP_016856727.1 | |
XM_017001239.1 | 16 | 2078 | XP_016856728.1 | |
XM_017001240.1 | 13 | 1646 | XP_016856729.1 | |
XM_017001241.1 | 13 | 1794 | XP_016856730.1 | |
XM_017001242.1 | 13 | 1698 | XP_016856731.1 | |
AK074121.1 | 10 | 1601 | BAB84947.1 | |
AK098809.1 | BAC05419.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv831648 | Chr.1:156694085 - 156912126 on Build GRCh38 | Loss | PEAR1 SH2D2A RRNAD1 PRCC CRABP2 ISG20L2 MRPL24 NTRK1 INSRR HDGF |
esv3890682 | Chr.1:156899922 - 156951428 on Build GRCh38 | Loss | PEAR1 LRRC71 ARHGEF11 MIR765 |
nsv831659 | Chr.1:156771159 - 156980204 on Build GRCh38 | Loss | PEAR1 SH2D2A PRCC LRRC71 ARHGEF11 NTRK1 INSRR MIR765 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |