Genomic Map
Back To TopAssay Details
Target Gene Details
Entrez Gene ID: | 27344 |
Gene Name: | proprotein convertase subtilisin/kexin type 1 inhibitor |
Gene Aliases: |
BigLEN, PEN, PROSAAS, SAAS, SCG8, SgVIII |
Location: |
Chr.X:48831092-48835638 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 2 - Exon 3 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| PCSK1N | NM_013271.4 | NP_037403.1 | ||
| AF181562.1 | AAF22643.1 | |||
| BC002851.2 | AAH02851.1 | |||
| BX459856.2 | ||||
| HY348068.1 |
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 |
 GPKOW
ERAS
GLOD5
LOC101927635
PORCN
OTUD5
WDR45
EBP
TBC1D25
SLC38A5
PRICKLE3
WAS
PIM2
TFE3
RBM3
CCDC22
PRAF2
TIMM17B
SLC35A2
FTSJ1
MAGIX
KCND1
FOXP3
SYP-AS1
WDR13
GATA1
SYP
PPP1R3F
PLP2
SUV39H1
PCSK1N
CCDC120
PQBP1
HDAC6
GRIPAP1
CACNA1F
|
| esv3576862 | Chr.X:48755018 - 48837713 on Build GRCh38 | Gain |
PCSK1N
ERAS
GLOD5
HDAC6
GATA1
|
| esv32909 | Chr.X:48003374 - 49285646 on Build GRCh38 | Gain+Loss |
ZNF630
SSX6
GPKOW
ERAS
GLOD5
ZNF182
LOC101927635
PORCN
OTUD5
WDR45
ZNF630-AS1
EBP
TBC1D25
SLC38A5
PRICKLE3
WAS
PIM2
TFE3
SPACA5B
RBM3
CCDC22
PRAF2
SSX1
TIMM17B
SLC35A2
FTSJ1
MAGIX
SPACA5
KCND1
FOXP3
SYP-AS1
WDR13
GATA1
SYP
PPP1R3F
PLP2
SSX4
SUV39H1
PCSK1N
SSX5
SSX9
SSX3
CCDC120
SSX4B
PQBP1
HDAC6
GRIPAP1
CACNA1F
|
Back To TopMore Information
Set Membership: |
Intragenic
Non-exonic
DGV Variation
|
Panther Classification:
Gene Ontology Categories:
Back To Top