Assay Details
Target Gene Details
Entrez Gene ID: | 54869 |
Gene Name: | EPS8 like 1 |
Gene Aliases: |
DRC3, EPS8R1, PP10566 |
Location: |
Chr.19:55075853-55087923 on Build GRCh38 |
Assay Gene Location: | Overlaps - Exon 21 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
EPS8L1 | NM_017729.3 | NP_060199.3 | ||
NM_133180.2 | NP_573441.2 | |||
XM_005259020.1 | XP_005259077.1 | |||
XM_011527050.1 | XP_011525352.1 | |||
AF282167.1 | AAG03038.1 | |||
AF370395.1 | AAQ15231.1 | |||
AK000265.1 | BAA91041.1 | |||
AK057052.1 | ||||
AK075098.1 | BAC11399.1 | |||
AY074928.1 | AAL76117.1 | |||
BC004907.2 | AAH04907.2 | |||
BC015763.1 | AAH15763.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv817874 | Chr.19:55067334 - 55103555 on Build GRCh38 | Loss | PPP1R12C EPS8L1 RDH13 |
esv3644836 | Chr.19:55084362 - 55113486 on Build GRCh38 | Gain | PPP1R12C EPS8L1 |
esv3644829 | Chr.19:55030893 - 55138732 on Build GRCh38 | Gain | GP6 PPP1R12C MIR7975 EPS8L1 RDH13 TNNT1 |
esv2667609 | Chr.19:54472514 - 55094226 on Build GRCh38 | Deletion | GP6 KIR2DL1 KIR2DL4 KIR3DL1 NLRP2 EPS8L1 LILRA2 LILRB4 KIR3DX1 KIR2DL3 LILRA1 PPP1R12C NCR1 LOC102724300 CDC42EP5 FCAR LILRB1 LAIR2 RDH13 LOC101928804 KIR3DL2 KIR2DS4 KIR3DL3 LILRP2 NLRP7 MIR8061 |
esv3893251 | Chr.19:55079303 - 55094733 on Build GRCh38 | Loss | PPP1R12C EPS8L1 |
esv2758772 | Chr.19:55026094 - 55139319 on Build GRCh38 | Gain | GP6 PPP1R12C MIR7975 EPS8L1 RDH13 TNNT1 |
nsv817875 | Chr.19:55070143 - 55090747 on Build GRCh38 | Loss | EPS8L1 |
esv2718872 | Chr.19:54472594 - 55094247 on Build GRCh38 | Deletion | GP6 KIR2DL1 KIR2DL4 KIR3DL1 NLRP2 EPS8L1 LILRA2 LILRB4 KIR3DX1 KIR2DL3 LILRA1 PPP1R12C NCR1 LOC102724300 CDC42EP5 FCAR LILRB1 LAIR2 RDH13 LOC101928804 KIR3DL2 KIR2DS4 KIR3DL3 LILRP2 NLRP7 MIR8061 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |