• 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
PRSS1 (HGNC:9475) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
serine protease 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
TRY1
Alias symbols
No aliases found
%HI
78.46(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.86(Read more about gnomAD LOEUF score)
Cytoband
7q34
Genomic Coordinates
GRCh37/hg19: chr7:142457323-142460923 NCBI Ensembl UCSC
GRCh38/hg38: chr7:142749472-142753072 NCBI Ensembl UCSC
MANE Select Transcript
NM_002769.5 ENST00000311737.12 (Read more about MANE Select)
Function
Has activity against the synthetic substrates Boc-Phe-Ser- Arg-Mec, Boc-Leu-Thr-Arg-Mec, Boc-Gln-Ala-Arg-Mec and Boc-Val-Pro-Arg- Mec. The single-chain form is more active than the two-chain form against all of these substrates. {ECO:0000269|PubMed:7945238}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-33157
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
10/29/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
As gain-of-function intragenic mutations in PRSS1 and a common 605 kb gain involving PRSS1 and PRSS2 are known to cause chronic pancreatitis, it is likely that focal gains in PRSS1 copy number (exclusive of PRSS2 and other genes) will result in a similar phenotype, however such mutations have not yet been reported in patient populations. Note: Mutations associated with hereditary pancreatitis exhibit ~80% penetrance. Here are some reports related to the common gain: PMID17072318: 2006 report of a triplication of a ~605 kb segment containing the PRSS1 and PRSS2 genes in five families with hereditary pancreatitis (HP). PMID18063422: 2008 report of triplication and duplication of the ~605 kb trypsinogen locus in 10 and 4 idiopathic chronic pancreatitis (ICP) patients, respectively. Five naturally occurring trypsinogen locus copy number variants were determined to be artifacts in this study. PMID19584086: 2009 characterization of the ~605 kb trypsinogen locus in 29 triplication carriers (one new family) with HP and 9 duplication carriers (five new patients) with ICP. Array-CGH reveals the presence of an additional ~137 kb segment, containing three known genes and one hypothetical gene, which may also contribute to the phenotypes of these individuals.

Genomic View

Select assembly: (NC_000007.13) (NC_000007.14)