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 Exon 10 - Intron 10 |
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 | |||
AK094539.1 | ||||
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 | DEAF1 POLR2L LMNTD2 TALDO1 RNH1 SIGIRR LOC171391 CRACR2B MUC6 ANO9 MUC2 MIR210 MIR6744 CEND1 PANO1 SNORA52 AP2A2 MUC5B EPS8L2 TOLLIP PKP3 DRD4 LOC101927503 PDDC1 B4GALNT4 PIDD1 TMEM80 SCT IRF7 PNPLA2 LRRC56 PHRF1 CHID1 TSPAN4 RPLP2 PTDSS2 LOC101059906 MIR210HG LOC143666 HRAS RASSF7 SLC25A22 CDHR5 MUC5AC CD151 |
nsv832043 | Chr.11:631027 - 758602 on Build GRCh38 | Loss | DEAF1 DRD4 TMEM80 TALDO1 EPS8L2 |
esv2759794 | Chr.11:409846 - 1336162 on Build GRCh38 | Loss | DEAF1 POLR2L LMNTD2 TALDO1 RNH1 SIGIRR LOC171391 TOLLIP-AS1 CRACR2B MUC6 ANO9 MUC2 MIR210 MIR6744 CEND1 PANO1 SNORA52 AP2A2 MUC5B EPS8L2 TOLLIP DRD4 LOC101927503 PDDC1 PIDD1 TMEM80 SCT IRF7 PNPLA2 LRRC56 PHRF1 CHID1 TSPAN4 RPLP2 PTDSS2 LOC101059906 MIR210HG LOC143666 HRAS RASSF7 SLC25A22 CDHR5 MUC5AC CD151 |
nsv552869 | Chr.11:702097 - 727446 on Build GRCh38 | Loss | TMEM80 EPS8L2 |
dgv182e199 | Chr.11:349830 - 943372 on Build GRCh38 | Deletion | DEAF1 POLR2L LMNTD2 TALDO1 RNH1 SIGIRR LOC171391 CRACR2B ANO9 MIR210 CEND1 PANO1 SNORA52 AP2A2 EPS8L2 PKP3 DRD4 PDDC1 B4GALNT4 PIDD1 TMEM80 SCT IRF7 PNPLA2 LRRC56 PHRF1 CHID1 TSPAN4 RPLP2 PTDSS2 LOC101059906 MIR210HG LOC143666 HRAS RASSF7 SLC25A22 CDHR5 CD151 |
nsv1159791 | Chr.11:461793 - 909492 on Build GRCh38 | Deletion | DEAF1 POLR2L LMNTD2 TALDO1 RNH1 LOC171391 CRACR2B MIR210 CEND1 PANO1 SNORA52 EPS8L2 DRD4 PDDC1 PIDD1 TMEM80 SCT IRF7 PNPLA2 LRRC56 PHRF1 CHID1 TSPAN4 RPLP2 PTDSS2 LOC101059906 MIR210HG LOC143666 HRAS RASSF7 SLC25A22 CDHR5 CD151 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |