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 | 3053 | NP_073609.2 |
XM_017018130.1 | 22 | 3270 | XP_016873619.1 | |
XM_017018131.1 | 21 | 3141 | XP_016873620.1 | |
XM_017018132.1 | 22 | 3111 | XP_016873621.1 | |
AK025588.1 | 21 | 2971 | BAB15180.1 | |
AK025824.1 | 21 | 2971 | BAB15248.1 | |
AK027765.1 | 9 | 1865 | BAB55354.1 | |
AK094539.1 | 13 | 2149 | ||
AK122903.1 | 18 | 3249 | ||
AK122984.1 | 6 | 1519 |
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 | TALDO1 EPS8L2 TMEM80 |
nsv469923 | Chr.11:378188 - 1302334 on Build GRCh38 | Loss | SNORA52 DEAF1 SLC25A22 SCT AP2A2 PNPLA2 PANO1 PHRF1 PDDC1 ANO9 MUC5AC HRAS TALDO1 RPLP2 CDHR5 DRD4 SIGIRR LOC171391 MUC6 B4GALNT4 CEND1 POLR2L MUC5B CD151 LOC143666 LMNTD2 LOC101927503 PTDSS2 EPS8L2 CRACR2B PIDD1 IRF7 LOC101059906 TSPAN4 MUC2 TOLLIP MIR210HG MIR210 RASSF7 PKP3 CHID1 TMEM80 RNH1 MIR6744 LRRC56 |
nsv832043 | Chr.11:631027 - 758602 on Build GRCh38 | Loss | TALDO1 DEAF1 DRD4 EPS8L2 TMEM80 |
esv2759794 | Chr.11:409846 - 1336162 on Build GRCh38 | Loss | SNORA52 DEAF1 SLC25A22 SCT AP2A2 PNPLA2 PANO1 PHRF1 PDDC1 ANO9 MUC5AC HRAS TOLLIP-AS1 TALDO1 RPLP2 CDHR5 DRD4 SIGIRR LOC171391 MUC6 CEND1 POLR2L MUC5B CD151 LOC143666 LMNTD2 LOC101927503 PTDSS2 EPS8L2 CRACR2B PIDD1 IRF7 LOC101059906 TSPAN4 MUC2 TOLLIP MIR210HG MIR210 RASSF7 CHID1 TMEM80 RNH1 MIR6744 LRRC56 |
dgv182e199 | Chr.11:349830 - 943372 on Build GRCh38 | Deletion | SNORA52 DEAF1 SLC25A22 SCT AP2A2 PNPLA2 PANO1 PHRF1 PDDC1 ANO9 HRAS TALDO1 RPLP2 CDHR5 DRD4 SIGIRR LOC171391 B4GALNT4 CEND1 POLR2L CD151 LOC143666 LMNTD2 PTDSS2 EPS8L2 CRACR2B PIDD1 IRF7 LOC101059906 TSPAN4 MIR210HG MIR210 RASSF7 PKP3 CHID1 TMEM80 RNH1 LRRC56 |
nsv1159791 | Chr.11:461793 - 909492 on Build GRCh38 | Deletion | SNORA52 DEAF1 SLC25A22 SCT PNPLA2 PANO1 PHRF1 PDDC1 HRAS TALDO1 RPLP2 CDHR5 DRD4 LOC171391 CEND1 POLR2L CD151 LOC143666 LMNTD2 PTDSS2 EPS8L2 CRACR2B PIDD1 IRF7 LOC101059906 TSPAN4 MIR210HG MIR210 RASSF7 CHID1 TMEM80 RNH1 LRRC56 |
esv33757 | Chr.11:723475 - 727720 on Build GRCh38 | Gain | EPS8L2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |