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