Assay Details
Target Gene Details
Entrez Gene ID: | 400668 |
Gene Name: | protease, serine 57 |
Gene Aliases: |
NSP4, PRSSL1, UNQ782 |
Location: |
Chr.19:685521-695461 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 2 - Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PRSS57 | NM_001308209.1 | NP_001295138.1 | ||
NM_214710.4 | NP_999875.1 | |||
AY358594.1 | AAQ88957.1 | |||
BC137161.1 | ||||
BC144505.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
dgv134n111 | Chr.19:607984 - 967584 on Build GRCh38 | Deletion | FGF22 PLPPR3 RNU6-9 PTBP1 PRSS57 RNF126 MISP ELANE KISS1R LOC101928450 MED16 POLRMT HCN2 AZU1 CFD MIR4745 PALM ARID3A R3HDM4 FSTL3 PRTN3 MIR3187 |
nsv428360 | Chr.19:232069 - 702131 on Build GRCh38 | Gain | FGF22 BSG LOC101929060 GZMM PRSS57 RNF126 THEG POLRMT ODF3L2 HCN2 PLPP2 CDC34 SHC2 TPGS1 MIER2 FSTL3 C2CD4C MADCAM1 |
nsv577978 | Chr.19:294526 - 782854 on Build GRCh38 | Gain | FGF22 BSG LOC101929060 GZMM PRSS57 RNF126 MISP LOC101928450 THEG POLRMT ODF3L2 HCN2 CDC34 SHC2 PALM TPGS1 MIER2 FSTL3 C2CD4C MADCAM1 |
nsv960769 | Chr.19:690863 - 696895 on Build GRCh38 | Duplication | PRSS57 |
nsv953938 | Chr.19:355801 - 1104501 on Build GRCh38 | Deletion | LOC105372235 ARHGAP45 RNU6-2 WDR18 PTBP1 BSG GZMM PRSS57 TMEM259 MISP MED16 THEG HCN2 MIR4745 SHC2 ARID3A FSTL3 MIR3187 MADCAM1 FGF22 PLPPR3 GPX4 RNU6-9 POLR2E GRIN3B RNF126 ELANE KISS1R LOC101928450 POLRMT CNN2 ODF3L2 AZU1 CFD CDC34 PALM TPGS1 ABCA7 R3HDM4 PRTN3 C2CD4C |
nsv470101 | Chr.19:401714 - 1008505 on Build GRCh38 | Loss | LOC105372235 WDR18 PTBP1 BSG GZMM PRSS57 MISP MED16 HCN2 MIR4745 SHC2 ARID3A FSTL3 MIR3187 MADCAM1 FGF22 PLPPR3 RNU6-9 GRIN3B RNF126 ELANE KISS1R LOC101928450 POLRMT ODF3L2 AZU1 CFD CDC34 PALM TPGS1 R3HDM4 PRTN3 C2CD4C |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |