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 16 - Exon 17 |
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 | ||||
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 |
---|---|---|---|
nsv8755 | Chr.11:722390 - 724601 on Build GRCh38 | Gain | EPS8L2 |
nsv522733 | Chr.11:702250 - 752059 on Build GRCh38 | Loss | TMEM80 EPS8L2 TALDO1 |
nsv469923 | Chr.11:378188 - 1302334 on Build GRCh38 | Loss | CRACR2B LOC101927503 LOC101059906 LRRC56 SIGIRR MUC2 DRD4 ANO9 PKP3 CHID1 MIR210 B4GALNT4 LOC171391 SLC25A22 CEND1 TMEM80 LOC143666 MUC5AC CD151 PDDC1 AP2A2 TSPAN4 SCT LMNTD2 CDHR5 MUC6 DEAF1 RPLP2 MUC5B TOLLIP POLR2L EPS8L2 PNPLA2 PIDD1 TALDO1 SNORA52 PTDSS2 PHRF1 RASSF7 MIR210HG HRAS PANO1 MIR6744 RNH1 IRF7 |
nsv832043 | Chr.11:631027 - 758602 on Build GRCh38 | Loss | TMEM80 DEAF1 DRD4 EPS8L2 TALDO1 |
esv2759794 | Chr.11:409846 - 1336162 on Build GRCh38 | Loss | CRACR2B LOC101927503 LOC101059906 LRRC56 SIGIRR MUC2 DRD4 ANO9 CHID1 MIR210 LOC171391 SLC25A22 CEND1 TMEM80 LOC143666 MUC5AC CD151 PDDC1 AP2A2 TSPAN4 SCT LMNTD2 CDHR5 MUC6 DEAF1 RPLP2 MUC5B TOLLIP POLR2L TOLLIP-AS1 EPS8L2 PNPLA2 PIDD1 TALDO1 SNORA52 PTDSS2 PHRF1 RASSF7 MIR210HG HRAS PANO1 MIR6744 RNH1 IRF7 |
nsv552869 | Chr.11:702097 - 727446 on Build GRCh38 | Loss | TMEM80 EPS8L2 |
dgv182e199 | Chr.11:349830 - 943372 on Build GRCh38 | Deletion | CRACR2B LOC101059906 LRRC56 SIGIRR DRD4 ANO9 PKP3 CHID1 MIR210 B4GALNT4 LOC171391 SLC25A22 CEND1 TMEM80 LOC143666 CD151 PDDC1 AP2A2 TSPAN4 SCT LMNTD2 CDHR5 DEAF1 RPLP2 POLR2L EPS8L2 PNPLA2 PIDD1 TALDO1 SNORA52 PTDSS2 PHRF1 RASSF7 MIR210HG HRAS PANO1 RNH1 IRF7 |
nsv1159791 | Chr.11:461793 - 909492 on Build GRCh38 | Deletion | CRACR2B LOC101059906 LRRC56 DRD4 CHID1 MIR210 LOC171391 SLC25A22 CEND1 TMEM80 LOC143666 CD151 PDDC1 TSPAN4 SCT LMNTD2 CDHR5 DEAF1 RPLP2 POLR2L EPS8L2 PNPLA2 PIDD1 TALDO1 SNORA52 PTDSS2 PHRF1 RASSF7 MIR210HG HRAS PANO1 RNH1 IRF7 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |