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 | EPS8L2 TMEM80 TALDO1 |
nsv469923 | Chr.11:378188 - 1302334 on Build GRCh38 | Loss | LMNTD2 PANO1 LOC143666 SIGIRR DEAF1 PDDC1 TOLLIP TSPAN4 DRD4 SCT SNORA52 PTDSS2 LOC101927503 PNPLA2 PKP3 MUC2 MIR6744 HRAS RNH1 TMEM80 PIDD1 CDHR5 MIR210 CEND1 B4GALNT4 ANO9 MUC5B TALDO1 POLR2L CRACR2B MUC6 SLC25A22 RASSF7 RPLP2 IRF7 EPS8L2 AP2A2 LOC101059906 PHRF1 CD151 LOC171391 LRRC56 CHID1 MUC5AC MIR210HG |
nsv832043 | Chr.11:631027 - 758602 on Build GRCh38 | Loss | EPS8L2 TMEM80 DEAF1 DRD4 TALDO1 |
esv2759794 | Chr.11:409846 - 1336162 on Build GRCh38 | Loss | LMNTD2 PANO1 LOC143666 SIGIRR DEAF1 PDDC1 TOLLIP TSPAN4 DRD4 SCT SNORA52 PTDSS2 LOC101927503 PNPLA2 MUC2 MIR6744 HRAS RNH1 TMEM80 TOLLIP-AS1 PIDD1 CDHR5 MIR210 CEND1 ANO9 MUC5B TALDO1 POLR2L CRACR2B MUC6 SLC25A22 RASSF7 RPLP2 IRF7 EPS8L2 AP2A2 LOC101059906 PHRF1 CD151 LOC171391 LRRC56 CHID1 MUC5AC MIR210HG |
nsv552869 | Chr.11:702097 - 727446 on Build GRCh38 | Loss | EPS8L2 TMEM80 |
dgv182e199 | Chr.11:349830 - 943372 on Build GRCh38 | Deletion | LMNTD2 PANO1 LOC143666 SIGIRR DEAF1 PDDC1 TSPAN4 DRD4 SCT SNORA52 PTDSS2 PNPLA2 PKP3 HRAS RNH1 TMEM80 PIDD1 CDHR5 MIR210 CEND1 B4GALNT4 ANO9 TALDO1 POLR2L CRACR2B SLC25A22 RASSF7 RPLP2 IRF7 EPS8L2 AP2A2 LOC101059906 PHRF1 CD151 LOC171391 LRRC56 CHID1 MIR210HG |
nsv1159791 | Chr.11:461793 - 909492 on Build GRCh38 | Deletion | LMNTD2 PANO1 LOC143666 DEAF1 PDDC1 TSPAN4 DRD4 SCT SNORA52 PTDSS2 PNPLA2 HRAS RNH1 TMEM80 PIDD1 CDHR5 MIR210 CEND1 TALDO1 POLR2L CRACR2B SLC25A22 RASSF7 RPLP2 IRF7 EPS8L2 LOC101059906 PHRF1 CD151 LOC171391 LRRC56 CHID1 MIR210HG |
esv33757 | Chr.11:723475 - 727720 on Build GRCh38 | Gain | EPS8L2 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |