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 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
EPS8L2 | NM_022772.3 | NP_073609.2 | ||
XM_017018130.1 | XP_016873619.1 | |||
XM_017018131.1 | 1 | 193 | XP_016873620.1 | |
XM_017018132.1 | 2 | 151 | XP_016873621.1 | |
AK025588.1 | BAB15180.1 | |||
AK025824.1 | BAB15248.1 | |||
AK222903.1 | BAD96623.1 | |||
AK225311.1 | ||||
AK294041.1 | ||||
AY074929.1 | AAL76118.1 | |||
BC080636.1 | 1 | 109 | AAH80636.1 |
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 | MIR210 PNPLA2 PANO1 LRRC56 LOC101927503 AP2A2 B4GALNT4 RPLP2 DRD4 MIR6744 CEND1 TMEM80 LOC101059906 CD151 MUC5B HRAS DEAF1 RNH1 IRF7 LOC171391 SIGIRR PIDD1 RASSF7 EPS8L2 LMNTD2 PHRF1 SCT MUC5AC CHID1 MUC2 TALDO1 MUC6 SNORA52 PKP3 SLC25A22 PDDC1 MIR210HG TOLLIP CRACR2B POLR2L PTDSS2 CDHR5 TSPAN4 LOC143666 ANO9 |
nsv832043 | Chr.11:631027 - 758602 on Build GRCh38 | Loss | EPS8L2 DEAF1 TALDO1 DRD4 TMEM80 |
esv2759794 | Chr.11:409846 - 1336162 on Build GRCh38 | Loss | MIR210 PNPLA2 PANO1 LRRC56 LOC101927503 AP2A2 RPLP2 DRD4 MIR6744 CEND1 TMEM80 LOC101059906 CD151 MUC5B HRAS DEAF1 RNH1 IRF7 LOC171391 SIGIRR PIDD1 RASSF7 EPS8L2 LMNTD2 PHRF1 SCT MUC5AC CHID1 TOLLIP-AS1 MUC2 TALDO1 MUC6 SNORA52 SLC25A22 PDDC1 MIR210HG TOLLIP CRACR2B POLR2L PTDSS2 CDHR5 TSPAN4 LOC143666 ANO9 |
nsv552869 | Chr.11:702097 - 727446 on Build GRCh38 | Loss | EPS8L2 TMEM80 |
dgv182e199 | Chr.11:349830 - 943372 on Build GRCh38 | Deletion | MIR210 PNPLA2 PANO1 LRRC56 AP2A2 B4GALNT4 RPLP2 DRD4 CEND1 TMEM80 LOC101059906 CD151 HRAS DEAF1 RNH1 IRF7 LOC171391 SIGIRR PIDD1 RASSF7 EPS8L2 LMNTD2 PHRF1 SCT CHID1 TALDO1 SNORA52 PKP3 SLC25A22 PDDC1 MIR210HG CRACR2B POLR2L PTDSS2 CDHR5 TSPAN4 LOC143666 ANO9 |
nsv1159791 | Chr.11:461793 - 909492 on Build GRCh38 | Deletion | MIR210 PNPLA2 PANO1 LRRC56 RPLP2 DRD4 CEND1 TMEM80 LOC101059906 CD151 HRAS DEAF1 RNH1 IRF7 LOC171391 PIDD1 RASSF7 EPS8L2 LMNTD2 PHRF1 SCT CHID1 TALDO1 SNORA52 SLC25A22 PDDC1 MIR210HG CRACR2B POLR2L PTDSS2 CDHR5 TSPAN4 LOC143666 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |