Assay Details
Target Gene Details
Entrez Gene ID: | 64787 |
Gene Name: | EPS8 like 2 |
Gene Aliases: |
EPS8R2 |
Location: |
Chr.11:705217-727727 on Build GRCh38 |
Assay Gene Location: | Within Exon 23 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
EPS8L2 | NM_022772.3 | 21 | 2956 | NP_073609.2 |
XM_017018130.1 | 22 | 3173 | XP_016873619.1 | |
XM_017018131.1 | 21 | 3044 | XP_016873620.1 | |
XM_017018132.1 | 22 | 3014 | XP_016873621.1 | |
AK025588.1 | 21 | 2874 | BAB15180.1 | |
AK025824.1 | 21 | 2874 | BAB15248.1 | |
AK027765.1 | 9 | 1768 | BAB55354.1 | |
AK094539.1 | 13 | 2052 | ||
AK122903.1 | 18 | 3152 | ||
AK122984.1 | 6 | 1422 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv522733 | Chr.11:702250 - 752059 on Build GRCh38 | Loss | EPS8L2 TMEM80 TALDO1 |
nsv469923 | Chr.11:378188 - 1302334 on Build GRCh38 | Loss | PTDSS2 PKP3 HRAS LOC101927503 LOC171391 SIGIRR TMEM80 RNH1 PIDD1 PHRF1 RASSF7 TALDO1 CDHR5 ANO9 RPLP2 SLC25A22 MUC6 LOC101059906 AP2A2 TOLLIP TSPAN4 MUC2 MIR210 PANO1 SNORA52 LOC143666 DRD4 PDDC1 CHID1 DEAF1 EPS8L2 CEND1 IRF7 PNPLA2 MIR210HG LMNTD2 POLR2L CD151 MUC5B MIR6744 LRRC56 CRACR2B B4GALNT4 MUC5AC SCT |
nsv832043 | Chr.11:631027 - 758602 on Build GRCh38 | Loss | EPS8L2 TMEM80 DRD4 TALDO1 DEAF1 |
esv2759794 | Chr.11:409846 - 1336162 on Build GRCh38 | Loss | PTDSS2 HRAS LOC101927503 LOC171391 SIGIRR TMEM80 RNH1 PIDD1 PHRF1 RASSF7 TALDO1 CDHR5 ANO9 RPLP2 SLC25A22 MUC6 LOC101059906 TOLLIP-AS1 AP2A2 TOLLIP TSPAN4 MUC2 MIR210 PANO1 SNORA52 LOC143666 DRD4 PDDC1 CHID1 DEAF1 EPS8L2 CEND1 IRF7 PNPLA2 MIR210HG LMNTD2 POLR2L CD151 MUC5B MIR6744 LRRC56 CRACR2B MUC5AC SCT |
dgv182e199 | Chr.11:349830 - 943372 on Build GRCh38 | Deletion | PTDSS2 PKP3 HRAS LOC171391 SIGIRR TMEM80 RNH1 PIDD1 PHRF1 RASSF7 TALDO1 CDHR5 ANO9 RPLP2 SLC25A22 LOC101059906 AP2A2 TSPAN4 MIR210 PANO1 SNORA52 LOC143666 DRD4 PDDC1 CHID1 DEAF1 EPS8L2 CEND1 IRF7 PNPLA2 MIR210HG LMNTD2 POLR2L CD151 LRRC56 CRACR2B B4GALNT4 SCT |
nsv1159791 | Chr.11:461793 - 909492 on Build GRCh38 | Deletion | PTDSS2 HRAS LOC171391 TMEM80 RNH1 PIDD1 PHRF1 RASSF7 TALDO1 CDHR5 RPLP2 SLC25A22 LOC101059906 TSPAN4 MIR210 PANO1 SNORA52 LOC143666 DRD4 PDDC1 CHID1 DEAF1 EPS8L2 CEND1 IRF7 PNPLA2 MIR210HG LMNTD2 POLR2L CD151 LRRC56 CRACR2B SCT |
esv33757 | Chr.11:723475 - 727720 on Build GRCh38 | Gain | EPS8L2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |