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 3 |
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 | ELANE R3HDM4 MIR4745 KISS1R HCN2 MIR3187 PLPPR3 POLRMT MISP CFD AZU1 RNU6-9 PALM PRSS57 LOC101928450 FSTL3 PRTN3 ARID3A RNF126 FGF22 PTBP1 MED16 |
nsv428360 | Chr.19:232069 - 702131 on Build GRCh38 | Gain | BSG HCN2 MIER2 POLRMT LOC101929060 PRSS57 THEG TPGS1 CDC34 FSTL3 ODF3L2 SHC2 GZMM PLPP2 RNF126 FGF22 MADCAM1 C2CD4C |
nsv577978 | Chr.19:294526 - 782854 on Build GRCh38 | Gain | BSG HCN2 MIER2 POLRMT MISP LOC101929060 PALM PRSS57 LOC101928450 THEG TPGS1 CDC34 FSTL3 ODF3L2 SHC2 GZMM RNF126 FGF22 MADCAM1 C2CD4C |
nsv960769 | Chr.19:690863 - 696895 on Build GRCh38 | Duplication | PRSS57 |
nsv953938 | Chr.19:355801 - 1104501 on Build GRCh38 | Deletion | ELANE TMEM259 BSG HCN2 PLPPR3 CNN2 POLRMT WDR18 AZU1 PALM LOC101928450 THEG TPGS1 CDC34 FSTL3 SHC2 ARID3A FGF22 MADCAM1 LOC105372235 C2CD4C ARHGAP45 R3HDM4 ABCA7 MIR4745 KISS1R MIR3187 MISP CFD RNU6-9 PRSS57 POLR2E PRTN3 ODF3L2 GPX4 RNU6-2 GZMM GRIN3B RNF126 PTBP1 MED16 |
esv2667208 | Chr.19:691511 - 692138 on Build GRCh38 | Deletion | PRSS57 |
nsv470101 | Chr.19:401714 - 1008505 on Build GRCh38 | Loss | ELANE BSG HCN2 PLPPR3 POLRMT WDR18 AZU1 PALM LOC101928450 TPGS1 CDC34 FSTL3 SHC2 ARID3A FGF22 MADCAM1 LOC105372235 C2CD4C R3HDM4 MIR4745 KISS1R MIR3187 MISP CFD RNU6-9 PRSS57 PRTN3 ODF3L2 GZMM GRIN3B RNF126 PTBP1 MED16 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |