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 Intron 21 - Exon 22 |
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 | EPS8L2 TALDO1 TMEM80 |
nsv469923 | Chr.11:378188 - 1302334 on Build GRCh38 | Loss | CEND1 LOC101059906 SIGIRR PDDC1 SCT CRACR2B DRD4 TMEM80 DEAF1 HRAS MIR6744 POLR2L CDHR5 PANO1 CHID1 MIR210HG LOC143666 RASSF7 LRRC56 RNH1 PKP3 MUC5B PTDSS2 ANO9 PHRF1 PNPLA2 IRF7 LOC171391 MUC5AC B4GALNT4 LMNTD2 MUC6 MUC2 CD151 PIDD1 AP2A2 MIR210 SLC25A22 EPS8L2 TALDO1 TOLLIP TSPAN4 LOC101927503 RPLP2 SNORA52 |
nsv832043 | Chr.11:631027 - 758602 on Build GRCh38 | Loss | EPS8L2 TALDO1 DRD4 TMEM80 DEAF1 |
esv2759794 | Chr.11:409846 - 1336162 on Build GRCh38 | Loss | CEND1 LOC101059906 SIGIRR PDDC1 SCT CRACR2B DRD4 TMEM80 DEAF1 HRAS MIR6744 POLR2L CDHR5 PANO1 CHID1 MIR210HG LOC143666 RASSF7 LRRC56 RNH1 MUC5B PTDSS2 ANO9 PHRF1 PNPLA2 TOLLIP-AS1 IRF7 LOC171391 MUC5AC LMNTD2 MUC6 MUC2 CD151 PIDD1 AP2A2 MIR210 SLC25A22 EPS8L2 TALDO1 TOLLIP TSPAN4 LOC101927503 RPLP2 SNORA52 |
nsv552869 | Chr.11:702097 - 727446 on Build GRCh38 | Loss | EPS8L2 TMEM80 |
dgv182e199 | Chr.11:349830 - 943372 on Build GRCh38 | Deletion | CEND1 LOC101059906 SIGIRR PDDC1 SCT CRACR2B DRD4 TMEM80 DEAF1 HRAS POLR2L CDHR5 PANO1 CHID1 MIR210HG LOC143666 RASSF7 LRRC56 RNH1 PKP3 PTDSS2 ANO9 PHRF1 PNPLA2 IRF7 LOC171391 B4GALNT4 LMNTD2 CD151 PIDD1 AP2A2 MIR210 SLC25A22 EPS8L2 TALDO1 TSPAN4 RPLP2 SNORA52 |
nsv1159791 | Chr.11:461793 - 909492 on Build GRCh38 | Deletion | CEND1 LOC101059906 PDDC1 SCT CRACR2B DRD4 TMEM80 DEAF1 HRAS POLR2L CDHR5 PANO1 CHID1 MIR210HG LOC143666 RASSF7 LRRC56 RNH1 PTDSS2 PHRF1 PNPLA2 IRF7 LOC171391 LMNTD2 CD151 PIDD1 MIR210 SLC25A22 EPS8L2 TALDO1 TSPAN4 RPLP2 SNORA52 |
esv33757 | Chr.11:723475 - 727720 on Build GRCh38 | Gain | EPS8L2 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |