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 5 - Intron 6 |
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 | |||
AK122903.1 | ||||
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 | PTDSS2 HRAS TMEM80 PIDD1 MIR210 LRRC56 MIR210HG TALDO1 SNORA52 AP2A2 TOLLIP MUC5AC LOC101927503 IRF7 ANO9 RNH1 SCT LOC101059906 POLR2L CD151 CHID1 SLC25A22 RPLP2 PDDC1 LOC171391 EPS8L2 PHRF1 DRD4 MIR6744 MUC5B LMNTD2 B4GALNT4 TSPAN4 PANO1 LOC143666 MUC6 PKP3 CDHR5 PNPLA2 RASSF7 CRACR2B CEND1 DEAF1 MUC2 SIGIRR |
nsv832043 | Chr.11:631027 - 758602 on Build GRCh38 | Loss | TMEM80 TALDO1 EPS8L2 DEAF1 DRD4 |
esv2759794 | Chr.11:409846 - 1336162 on Build GRCh38 | Loss | PTDSS2 HRAS TMEM80 PIDD1 MIR210 LRRC56 MIR210HG TALDO1 SNORA52 AP2A2 TOLLIP MUC5AC LOC101927503 IRF7 ANO9 RNH1 SCT LOC101059906 POLR2L CD151 CHID1 SLC25A22 RPLP2 PDDC1 LOC171391 EPS8L2 PHRF1 DRD4 MIR6744 MUC5B LMNTD2 TSPAN4 PANO1 LOC143666 MUC6 CDHR5 TOLLIP-AS1 PNPLA2 RASSF7 CRACR2B CEND1 DEAF1 MUC2 SIGIRR |
nsv552869 | Chr.11:702097 - 727446 on Build GRCh38 | Loss | TMEM80 EPS8L2 |
dgv182e199 | Chr.11:349830 - 943372 on Build GRCh38 | Deletion | PTDSS2 HRAS TMEM80 PIDD1 MIR210 LRRC56 MIR210HG TALDO1 SNORA52 AP2A2 IRF7 ANO9 RNH1 SCT LOC101059906 POLR2L CD151 CHID1 SLC25A22 RPLP2 PDDC1 LOC171391 EPS8L2 PHRF1 DRD4 LMNTD2 B4GALNT4 TSPAN4 PANO1 LOC143666 PKP3 CDHR5 PNPLA2 RASSF7 CRACR2B CEND1 DEAF1 SIGIRR |
nsv1159791 | Chr.11:461793 - 909492 on Build GRCh38 | Deletion | PTDSS2 HRAS TMEM80 PIDD1 MIR210 LRRC56 MIR210HG TALDO1 SNORA52 IRF7 RNH1 SCT LOC101059906 POLR2L CD151 CHID1 SLC25A22 RPLP2 PDDC1 LOC171391 EPS8L2 PHRF1 DRD4 LMNTD2 TSPAN4 PANO1 LOC143666 CDHR5 PNPLA2 RASSF7 CRACR2B CEND1 DEAF1 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |