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 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
EPS8L2 | NM_022772.3 | 5 | 451 | NP_073609.2 |
XM_017018130.1 | 6 | 668 | XP_016873619.1 | |
XM_017018131.1 | 5 | 539 | XP_016873620.1 | |
XM_017018132.1 | 6 | 509 | XP_016873621.1 | |
AK025588.1 | 5 | 369 | BAB15180.1 | |
AK025824.1 | 5 | 369 | BAB15248.1 | |
AK122903.1 | 2 | 647 | ||
AK222903.1 | 5 | 364 | BAD96623.1 | |
AK225311.1 | 5 | 369 | ||
AK294041.1 | 5 | 368 | ||
AY074929.1 | 5 | 476 | AAL76118.1 | |
BC080636.1 | 5 | 455 | AAH80636.1 | |
BC093878.1 | 4 | 244 | AAH93878.1 | |
BC101481.1 | 4 | 244 | AAI01482.1 | |
BC143242.1 | 4 | 244 |
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 TALDO1 TMEM80 |
nsv469923 | Chr.11:378188 - 1302334 on Build GRCh38 | Loss | SCT PANO1 CDHR5 TALDO1 SIGIRR PHRF1 MIR6744 HRAS PIDD1 MUC5AC LMNTD2 LRRC56 CRACR2B LOC101927503 B4GALNT4 TOLLIP IRF7 PNPLA2 AP2A2 LOC101059906 CHID1 LOC143666 LOC171391 CEND1 POLR2L MUC5B DEAF1 ANO9 EPS8L2 MUC6 DRD4 PTDSS2 RNH1 RASSF7 TMEM80 SNORA52 PKP3 MIR210 MIR210HG PDDC1 RPLP2 MUC2 TSPAN4 CD151 SLC25A22 |
nsv832043 | Chr.11:631027 - 758602 on Build GRCh38 | Loss | EPS8L2 DRD4 TALDO1 TMEM80 DEAF1 |
esv2759794 | Chr.11:409846 - 1336162 on Build GRCh38 | Loss | SCT PANO1 CDHR5 TALDO1 SIGIRR PHRF1 MIR6744 HRAS PIDD1 MUC5AC LMNTD2 LRRC56 CRACR2B LOC101927503 TOLLIP IRF7 PNPLA2 AP2A2 LOC101059906 CHID1 TOLLIP-AS1 LOC143666 LOC171391 CEND1 POLR2L MUC5B DEAF1 ANO9 EPS8L2 MUC6 DRD4 PTDSS2 RNH1 RASSF7 TMEM80 SNORA52 MIR210 MIR210HG PDDC1 RPLP2 MUC2 TSPAN4 CD151 SLC25A22 |
nsv552869 | Chr.11:702097 - 727446 on Build GRCh38 | Loss | EPS8L2 TMEM80 |
dgv182e199 | Chr.11:349830 - 943372 on Build GRCh38 | Deletion | SCT PANO1 CDHR5 TALDO1 SIGIRR PHRF1 HRAS PIDD1 LMNTD2 LRRC56 CRACR2B B4GALNT4 IRF7 PNPLA2 AP2A2 LOC101059906 CHID1 LOC143666 LOC171391 CEND1 POLR2L DEAF1 ANO9 EPS8L2 DRD4 PTDSS2 RNH1 RASSF7 TMEM80 SNORA52 PKP3 MIR210 MIR210HG PDDC1 RPLP2 TSPAN4 CD151 SLC25A22 |
nsv1159791 | Chr.11:461793 - 909492 on Build GRCh38 | Deletion | SCT PANO1 CDHR5 TALDO1 PHRF1 HRAS PIDD1 LMNTD2 LRRC56 CRACR2B IRF7 PNPLA2 LOC101059906 CHID1 LOC143666 LOC171391 CEND1 POLR2L DEAF1 EPS8L2 DRD4 PTDSS2 RNH1 RASSF7 TMEM80 SNORA52 MIR210 MIR210HG PDDC1 RPLP2 TSPAN4 CD151 SLC25A22 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |