PRSS1 |
- 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)