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: | Overlaps Exon 18 - Intron 18 |
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 | |||
AF318331.1 | AAL55838.1 | |||
AK025588.1 | BAB15180.1 | |||
AK025824.1 | BAB15248.1 | |||
AK027765.1 | BAB55354.1 | |||
AK094539.1 | ||||
AK122903.1 | ||||
AK122984.1 | ||||
AK222903.1 | BAD96623.1 | |||
AK225311.1 | ||||
AY074929.1 | AAL76118.1 | |||
BC080636.1 | AAH80636.1 | |||
BC093878.1 | AAH93878.1 | |||
BC101481.1 | AAI01482.1 | |||
BC143242.1 |
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 | TMEM80 TALDO1 EPS8L2 |
nsv469923 | Chr.11:378188 - 1302334 on Build GRCh38 | Loss | PKP3 SNORA52 RNH1 HRAS MUC5AC PTDSS2 MIR210 MUC2 LOC101927503 DEAF1 RPLP2 IRF7 PANO1 CRACR2B SIGIRR TALDO1 MIR210HG PDDC1 CDHR5 MUC6 AP2A2 CEND1 PHRF1 SLC25A22 PIDD1 CHID1 TOLLIP POLR2L CD151 MUC5B LMNTD2 B4GALNT4 RASSF7 ANO9 MIR6744 LOC143666 LRRC56 LOC171391 TMEM80 DRD4 SCT PNPLA2 TSPAN4 LOC101059906 EPS8L2 |
nsv832043 | Chr.11:631027 - 758602 on Build GRCh38 | Loss | TMEM80 DEAF1 DRD4 TALDO1 EPS8L2 |
esv2759794 | Chr.11:409846 - 1336162 on Build GRCh38 | Loss | SNORA52 RNH1 HRAS MUC5AC PTDSS2 MIR210 MUC2 LOC101927503 DEAF1 RPLP2 IRF7 PANO1 CRACR2B SIGIRR TALDO1 MIR210HG PDDC1 CDHR5 MUC6 AP2A2 CEND1 PHRF1 SLC25A22 PIDD1 CHID1 TOLLIP POLR2L CD151 MUC5B LMNTD2 RASSF7 ANO9 MIR6744 LOC143666 LRRC56 LOC171391 TMEM80 DRD4 TOLLIP-AS1 SCT PNPLA2 TSPAN4 LOC101059906 EPS8L2 |
nsv552869 | Chr.11:702097 - 727446 on Build GRCh38 | Loss | TMEM80 EPS8L2 |
dgv182e199 | Chr.11:349830 - 943372 on Build GRCh38 | Deletion | PKP3 SNORA52 RNH1 HRAS PTDSS2 MIR210 DEAF1 RPLP2 IRF7 PANO1 CRACR2B SIGIRR TALDO1 MIR210HG PDDC1 CDHR5 AP2A2 CEND1 PHRF1 SLC25A22 PIDD1 CHID1 POLR2L CD151 LMNTD2 B4GALNT4 RASSF7 ANO9 LOC143666 LRRC56 LOC171391 TMEM80 DRD4 SCT PNPLA2 TSPAN4 LOC101059906 EPS8L2 |
nsv1159791 | Chr.11:461793 - 909492 on Build GRCh38 | Deletion | SNORA52 RNH1 HRAS PTDSS2 MIR210 DEAF1 RPLP2 IRF7 PANO1 CRACR2B TALDO1 MIR210HG PDDC1 CDHR5 CEND1 PHRF1 SLC25A22 PIDD1 CHID1 POLR2L CD151 LMNTD2 RASSF7 LOC143666 LRRC56 LOC171391 TMEM80 DRD4 SCT PNPLA2 TSPAN4 LOC101059906 EPS8L2 |
esv33757 | Chr.11:723475 - 727720 on Build GRCh38 | Gain | EPS8L2 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |