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 | SLC38A5 GRIPAP1 FOXP3 PQBP1 OTUD5 TFE3 TBC1D25 RBM3 GLOD5 TIMM17B PCSK1N SLC35A2 PPP1R3F CCDC22 EBP LOC101927635 WDR45 HDAC6 PRAF2 ERAS MAGIX SYP GATA1 GPKOW WAS PLP2 SUV39H1 PORCN FTSJ1 CACNA1F WDR13 SYP-AS1 CCDC120 PIM2 PRICKLE3 KCND1 |
esv32909 | Chr.X:48003374 - 49285646 on Build GRCh38 | Gain+Loss | SLC38A5 SSX3 GRIPAP1 FOXP3 PQBP1 ZNF630 OTUD5 TFE3 TBC1D25 RBM3 GLOD5 TIMM17B PCSK1N SLC35A2 PPP1R3F CCDC22 SPACA5 EBP LOC101927635 SSX6 WDR45 HDAC6 SSX1 PRAF2 ERAS SSX4B MAGIX SYP GATA1 GPKOW WAS SSX4 SSX9 PLP2 SUV39H1 PORCN FTSJ1 ZNF182 SPACA5B SSX5 CACNA1F WDR13 ZNF630-AS1 SYP-AS1 CCDC120 PIM2 PRICKLE3 KCND1 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |