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 22 - Exon 23 |
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 | LOC101927503 B4GALNT4 POLR2L HRAS SLC25A22 CRACR2B CDHR5 LRRC56 SCT MUC5B MUC5AC TALDO1 IRF7 LOC101059906 EPS8L2 CEND1 RNH1 ANO9 TSPAN4 MIR210 LMNTD2 PKP3 PANO1 PIDD1 PNPLA2 PTDSS2 CHID1 AP2A2 MIR6744 LOC171391 PDDC1 MIR210HG CD151 SIGIRR MUC6 RPLP2 TOLLIP DEAF1 LOC143666 TMEM80 MUC2 RASSF7 DRD4 SNORA52 PHRF1 |
nsv832043 | Chr.11:631027 - 758602 on Build GRCh38 | Loss | TMEM80 DRD4 DEAF1 TALDO1 EPS8L2 |
esv2759794 | Chr.11:409846 - 1336162 on Build GRCh38 | Loss | LOC101927503 TOLLIP-AS1 POLR2L HRAS SLC25A22 CRACR2B CDHR5 LRRC56 SCT MUC5B MUC5AC TALDO1 IRF7 LOC101059906 EPS8L2 CEND1 RNH1 ANO9 TSPAN4 MIR210 LMNTD2 PANO1 PIDD1 PNPLA2 PTDSS2 CHID1 AP2A2 MIR6744 LOC171391 PDDC1 MIR210HG CD151 SIGIRR MUC6 RPLP2 TOLLIP DEAF1 LOC143666 TMEM80 MUC2 RASSF7 DRD4 SNORA52 PHRF1 |
nsv552869 | Chr.11:702097 - 727446 on Build GRCh38 | Loss | TMEM80 EPS8L2 |
dgv182e199 | Chr.11:349830 - 943372 on Build GRCh38 | Deletion | B4GALNT4 POLR2L HRAS SLC25A22 CRACR2B CDHR5 LRRC56 SCT TALDO1 IRF7 LOC101059906 EPS8L2 CEND1 RNH1 ANO9 TSPAN4 MIR210 LMNTD2 PKP3 PANO1 PIDD1 PNPLA2 PTDSS2 CHID1 AP2A2 LOC171391 PDDC1 MIR210HG CD151 SIGIRR RPLP2 DEAF1 LOC143666 TMEM80 RASSF7 DRD4 SNORA52 PHRF1 |
nsv1159791 | Chr.11:461793 - 909492 on Build GRCh38 | Deletion | POLR2L HRAS SLC25A22 CRACR2B CDHR5 LRRC56 SCT TALDO1 IRF7 LOC101059906 EPS8L2 CEND1 RNH1 TSPAN4 MIR210 LMNTD2 PANO1 PIDD1 PNPLA2 PTDSS2 CHID1 LOC171391 PDDC1 MIR210HG CD151 RPLP2 DEAF1 LOC143666 TMEM80 RASSF7 DRD4 SNORA52 PHRF1 |
esv33757 | Chr.11:723475 - 727720 on Build GRCh38 | Gain | EPS8L2 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |