Assay Details
Target Gene Details
Entrez Gene ID: | 10682 |
Gene Name: | emopamil binding protein (sterol isomerase) |
Gene Aliases: |
CDPX2, CHO2, CPX, CPXD, MEND |
Location: |
Chr.X:48521776-48528716 on Build GRCh38 |
Assay Gene Location: | Within Intron 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
EBP | NM_006579.2 | NP_006570.1 | ||
BC001549.1 | AAH01549.1 | |||
BC001572.1 | AAH01572.1 | |||
BC046501.1 | AAH46501.1 | |||
CA488777.1 | ||||
CR456815.1 | CAG33096.1 | |||
CR542094.1 | CAG46891.1 | |||
KJ921656.1 | ||||
Z37986.1 | CAA86068.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv528292 | Chr.X:48433286 - 49274368 on Build GRCh38 | Gain | MAGIX GPKOW FTSJ1 PRAF2 PRICKLE3 ERAS CACNA1F OTUD5 WAS GLOD5 PCSK1N PQBP1 FOXP3 PIM2 HDAC6 SLC38A5 WDR45 GRIPAP1 CCDC120 WDR13 EBP SLC35A2 PORCN TFE3 RBM3 KCND1 PPP1R3F GATA1 TIMM17B SYP SUV39H1 SYP-AS1 CCDC22 TBC1D25 LOC101927635 PLP2 |
esv32909 | Chr.X:48003374 - 49285646 on Build GRCh38 | Gain+Loss | SPACA5B MAGIX GPKOW FTSJ1 PRAF2 PRICKLE3 ERAS CACNA1F SSX6 SPACA5 OTUD5 WAS SSX4B GLOD5 PCSK1N PQBP1 FOXP3 ZNF630 PIM2 HDAC6 SLC38A5 WDR45 GRIPAP1 ZNF630-AS1 CCDC120 WDR13 EBP SLC35A2 PORCN TFE3 RBM3 SSX1 KCND1 PPP1R3F SSX3 SSX4 GATA1 TIMM17B SYP SSX9 SUV39H1 SYP-AS1 CCDC22 TBC1D25 LOC101927635 PLP2 SSX5 ZNF182 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |