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 Intron 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 | XP_016873620.1 | |||
XM_017018132.1 | 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 | 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 | TALDO1 TMEM80 EPS8L2 |
nsv469923 | Chr.11:378188 - 1302334 on Build GRCh38 | Loss | MUC2 AP2A2 B4GALNT4 IRF7 SCT PHRF1 DEAF1 MUC6 LMNTD2 MIR6744 PTDSS2 CRACR2B EPS8L2 PIDD1 CEND1 RPLP2 TOLLIP LOC101927503 SNORA52 MIR210 LRRC56 SLC25A22 POLR2L LOC171391 MUC5AC CD151 RNH1 TSPAN4 LOC143666 CHID1 TMEM80 HRAS PDDC1 ANO9 CDHR5 PANO1 LOC101059906 RASSF7 MUC5B MIR210HG PKP3 DRD4 SIGIRR TALDO1 PNPLA2 |
nsv832043 | Chr.11:631027 - 758602 on Build GRCh38 | Loss | DRD4 TALDO1 DEAF1 TMEM80 EPS8L2 |
esv2759794 | Chr.11:409846 - 1336162 on Build GRCh38 | Loss | MUC2 AP2A2 IRF7 SCT PHRF1 DEAF1 MUC6 LMNTD2 MIR6744 PTDSS2 CRACR2B EPS8L2 PIDD1 CEND1 RPLP2 TOLLIP LOC101927503 SNORA52 MIR210 LRRC56 SLC25A22 POLR2L LOC171391 MUC5AC CD151 RNH1 TSPAN4 LOC143666 CHID1 TMEM80 HRAS PDDC1 ANO9 CDHR5 TOLLIP-AS1 PANO1 LOC101059906 RASSF7 MUC5B MIR210HG DRD4 SIGIRR TALDO1 PNPLA2 |
nsv552869 | Chr.11:702097 - 727446 on Build GRCh38 | Loss | TMEM80 EPS8L2 |
dgv182e199 | Chr.11:349830 - 943372 on Build GRCh38 | Deletion | AP2A2 B4GALNT4 IRF7 SCT PHRF1 DEAF1 LMNTD2 PTDSS2 CRACR2B EPS8L2 PIDD1 CEND1 RPLP2 SNORA52 MIR210 LRRC56 SLC25A22 POLR2L LOC171391 CD151 RNH1 TSPAN4 LOC143666 CHID1 TMEM80 HRAS PDDC1 ANO9 CDHR5 PANO1 LOC101059906 RASSF7 MIR210HG PKP3 DRD4 SIGIRR TALDO1 PNPLA2 |
nsv1159791 | Chr.11:461793 - 909492 on Build GRCh38 | Deletion | IRF7 SCT PHRF1 DEAF1 LMNTD2 PTDSS2 CRACR2B EPS8L2 PIDD1 CEND1 RPLP2 SNORA52 MIR210 LRRC56 SLC25A22 POLR2L LOC171391 CD151 RNH1 TSPAN4 LOC143666 CHID1 TMEM80 HRAS PDDC1 CDHR5 PANO1 LOC101059906 RASSF7 MIR210HG DRD4 TALDO1 PNPLA2 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |