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 3 - Exon 4 |
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 | |||
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 | SNORA52 LOC171391 LMNTD2 TSPAN4 LOC101927503 MIR210HG SIGIRR CDHR5 PIDD1 MUC6 AP2A2 CHID1 TMEM80 EPS8L2 CD151 B4GALNT4 PKP3 DRD4 LRRC56 HRAS PTDSS2 SCT RNH1 MUC5B PNPLA2 DEAF1 MIR210 RASSF7 RPLP2 MUC2 LOC101059906 SLC25A22 MIR6744 IRF7 PHRF1 CRACR2B CEND1 POLR2L TALDO1 MUC5AC PDDC1 LOC143666 PANO1 ANO9 TOLLIP |
nsv832043 | Chr.11:631027 - 758602 on Build GRCh38 | Loss | TMEM80 DEAF1 TALDO1 EPS8L2 DRD4 |
esv2759794 | Chr.11:409846 - 1336162 on Build GRCh38 | Loss | SNORA52 LOC171391 LMNTD2 TSPAN4 LOC101927503 MIR210HG SIGIRR CDHR5 PIDD1 MUC6 AP2A2 CHID1 TMEM80 EPS8L2 CD151 DRD4 LRRC56 HRAS PTDSS2 SCT RNH1 MUC5B PNPLA2 DEAF1 MIR210 RASSF7 RPLP2 MUC2 LOC101059906 SLC25A22 MIR6744 IRF7 PHRF1 TOLLIP-AS1 CRACR2B CEND1 POLR2L TALDO1 MUC5AC PDDC1 LOC143666 PANO1 ANO9 TOLLIP |
nsv552869 | Chr.11:702097 - 727446 on Build GRCh38 | Loss | TMEM80 EPS8L2 |
dgv182e199 | Chr.11:349830 - 943372 on Build GRCh38 | Deletion | SNORA52 LOC171391 LMNTD2 TSPAN4 MIR210HG SIGIRR CDHR5 PIDD1 AP2A2 CHID1 TMEM80 EPS8L2 CD151 B4GALNT4 PKP3 DRD4 LRRC56 HRAS PTDSS2 SCT RNH1 PNPLA2 DEAF1 MIR210 RASSF7 RPLP2 LOC101059906 SLC25A22 IRF7 PHRF1 CRACR2B CEND1 POLR2L TALDO1 PDDC1 LOC143666 PANO1 ANO9 |
nsv1159791 | Chr.11:461793 - 909492 on Build GRCh38 | Deletion | SNORA52 LOC171391 LMNTD2 TSPAN4 MIR210HG CDHR5 PIDD1 CHID1 TMEM80 EPS8L2 CD151 DRD4 LRRC56 HRAS PTDSS2 SCT RNH1 PNPLA2 DEAF1 MIR210 RASSF7 RPLP2 LOC101059906 SLC25A22 IRF7 PHRF1 CRACR2B CEND1 POLR2L TALDO1 PDDC1 LOC143666 PANO1 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |