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 13 - Intron 13 |
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 | 1 | 36 | AAL55838.1 | |
AK025588.1 | BAB15180.1 | |||
AK025824.1 | BAB15248.1 | |||
AK094539.1 | ||||
AK122903.1 | ||||
AK222903.1 | BAD96623.1 | |||
AK225311.1 | ||||
AK294041.1 | 10 | 1376 | ||
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 | TALDO1 TMEM80 EPS8L2 |
nsv469923 | Chr.11:378188 - 1302334 on Build GRCh38 | Loss | LRRC56 RASSF7 MUC2 MUC5B DEAF1 LOC171391 PNPLA2 SNORA52 SCT MIR6744 TALDO1 MUC6 HRAS PHRF1 DRD4 EPS8L2 PDDC1 PANO1 MIR210HG TSPAN4 MIR210 POLR2L CDHR5 B4GALNT4 CD151 TOLLIP RPLP2 IRF7 PTDSS2 AP2A2 LOC101927503 LOC101059906 PKP3 LMNTD2 TMEM80 CHID1 LOC143666 CEND1 RNH1 SIGIRR SLC25A22 MUC5AC ANO9 CRACR2B PIDD1 |
nsv832043 | Chr.11:631027 - 758602 on Build GRCh38 | Loss | DEAF1 TALDO1 TMEM80 DRD4 EPS8L2 |
esv2759794 | Chr.11:409846 - 1336162 on Build GRCh38 | Loss | LRRC56 RASSF7 MUC2 MUC5B DEAF1 LOC171391 PNPLA2 SNORA52 SCT MIR6744 TALDO1 MUC6 HRAS PHRF1 DRD4 EPS8L2 PDDC1 PANO1 MIR210HG TSPAN4 MIR210 POLR2L CDHR5 CD151 TOLLIP RPLP2 IRF7 PTDSS2 AP2A2 LOC101927503 LOC101059906 LMNTD2 TMEM80 CHID1 TOLLIP-AS1 LOC143666 CEND1 RNH1 SIGIRR SLC25A22 MUC5AC ANO9 CRACR2B PIDD1 |
nsv552869 | Chr.11:702097 - 727446 on Build GRCh38 | Loss | TMEM80 EPS8L2 |
dgv182e199 | Chr.11:349830 - 943372 on Build GRCh38 | Deletion | LRRC56 RASSF7 DEAF1 LOC171391 PNPLA2 SNORA52 SCT TALDO1 HRAS PHRF1 DRD4 EPS8L2 PDDC1 PANO1 MIR210HG TSPAN4 MIR210 POLR2L CDHR5 B4GALNT4 CD151 RPLP2 IRF7 PTDSS2 AP2A2 LOC101059906 PKP3 LMNTD2 TMEM80 CHID1 LOC143666 CEND1 RNH1 SIGIRR SLC25A22 ANO9 CRACR2B PIDD1 |
nsv1159791 | Chr.11:461793 - 909492 on Build GRCh38 | Deletion | LRRC56 RASSF7 DEAF1 LOC171391 PNPLA2 SNORA52 SCT TALDO1 HRAS PHRF1 DRD4 EPS8L2 PDDC1 PANO1 MIR210HG TSPAN4 MIR210 POLR2L CDHR5 CD151 RPLP2 IRF7 PTDSS2 LOC101059906 LMNTD2 TMEM80 CHID1 LOC143666 CEND1 RNH1 SLC25A22 CRACR2B PIDD1 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |