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: | Within Exon 21 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
EPS8L2 | NM_022772.3 | 19 | 2050 | NP_073609.2 |
XM_017018130.1 | 20 | 2267 | XP_016873619.1 | |
XM_017018131.1 | 19 | 2138 | XP_016873620.1 | |
XM_017018132.1 | 20 | 2108 | XP_016873621.1 | |
AF318331.1 | 7 | 1221 | AAL55838.1 | |
AK025588.1 | 19 | 1968 | BAB15180.1 | |
AK025824.1 | 19 | 1968 | BAB15248.1 | |
AK027765.1 | 7 | 862 | BAB55354.1 | |
AK094539.1 | 11 | 1146 | ||
AK122903.1 | 16 | 2246 | ||
AK122984.1 | 4 | 516 | ||
AK222903.1 | 19 | 1963 | BAD96623.1 | |
AK225311.1 | 19 | 1968 | ||
AY074929.1 | 19 | 2075 | AAL76118.1 | |
BC080636.1 | 19 | 2054 | AAH80636.1 | |
BC093878.1 | 18 | 1843 | AAH93878.1 | |
BC101481.1 | 18 | 1843 | AAI01482.1 | |
BC143242.1 | 18 | 1891 |
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 EPS8L2 TALDO1 |
nsv469923 | Chr.11:378188 - 1302334 on Build GRCh38 | Loss | SIGIRR ANO9 RASSF7 RPLP2 PTDSS2 TMEM80 AP2A2 MIR210HG LOC101059906 TALDO1 LRRC56 LOC143666 LMNTD2 PIDD1 SLC25A22 B4GALNT4 EPS8L2 PKP3 MUC5B PDDC1 SCT POLR2L CHID1 LOC101927503 TOLLIP CD151 SNORA52 MUC6 DEAF1 PANO1 LOC171391 DRD4 PNPLA2 TSPAN4 MUC2 MUC5AC CDHR5 RNH1 MIR210 IRF7 MIR6744 PHRF1 CEND1 CRACR2B HRAS |
nsv832043 | Chr.11:631027 - 758602 on Build GRCh38 | Loss | TMEM80 EPS8L2 DEAF1 TALDO1 DRD4 |
esv2759794 | Chr.11:409846 - 1336162 on Build GRCh38 | Loss | SIGIRR ANO9 RASSF7 RPLP2 PTDSS2 TMEM80 AP2A2 MIR210HG LOC101059906 TALDO1 TOLLIP-AS1 LRRC56 LOC143666 LMNTD2 PIDD1 SLC25A22 EPS8L2 MUC5B PDDC1 SCT POLR2L CHID1 LOC101927503 TOLLIP CD151 SNORA52 MUC6 DEAF1 PANO1 LOC171391 DRD4 PNPLA2 TSPAN4 MUC2 MUC5AC CDHR5 RNH1 MIR210 IRF7 MIR6744 PHRF1 CEND1 CRACR2B HRAS |
nsv552869 | Chr.11:702097 - 727446 on Build GRCh38 | Loss | TMEM80 EPS8L2 |
dgv182e199 | Chr.11:349830 - 943372 on Build GRCh38 | Deletion | SIGIRR ANO9 RASSF7 RPLP2 PTDSS2 TMEM80 AP2A2 MIR210HG LOC101059906 TALDO1 LRRC56 LOC143666 LMNTD2 PIDD1 SLC25A22 B4GALNT4 EPS8L2 PKP3 PDDC1 SCT POLR2L CHID1 CD151 SNORA52 DEAF1 PANO1 LOC171391 DRD4 PNPLA2 TSPAN4 CDHR5 RNH1 MIR210 IRF7 PHRF1 CEND1 CRACR2B HRAS |
nsv1159791 | Chr.11:461793 - 909492 on Build GRCh38 | Deletion | RASSF7 RPLP2 PTDSS2 TMEM80 MIR210HG LOC101059906 TALDO1 LRRC56 LOC143666 LMNTD2 PIDD1 SLC25A22 EPS8L2 PDDC1 SCT POLR2L CHID1 CD151 SNORA52 DEAF1 PANO1 LOC171391 DRD4 PNPLA2 TSPAN4 CDHR5 RNH1 MIR210 IRF7 PHRF1 CEND1 CRACR2B HRAS |
esv33757 | Chr.11:723475 - 727720 on Build GRCh38 | Gain | EPS8L2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |