• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
P3H1 (HGNC:19316) HGNC Entrez Ensembl OMIM Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
prolyl 3-hydroxylase 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
LEPRE1
Alias symbols
GROS1, LEPRECAN, MGC117314
%HI
48.37(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.23(Read more about gnomAD LOEUF score)
Cytoband
1p34.2
Genomic Coordinates
GRCh37/hg19: chr1:43212045-43232699 NCBI Ensembl UCSC
GRCh38/hg38: chr1:42746374-42767028 NCBI Ensembl UCSC
MANE Select Transcript
NM_022356.4 ENST00000296388.10 (Read more about MANE Select)
Function
Basement membrane-associated chondroitin sulfate proteoglycan (CSPG). Has prolyl 3-hydroxylase activity catalyzing the post- translational formation of 3-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens, especially types IV and V. May be involved in the secretory pathway of cells. Has growth suppressive activity in fibroblasts. {ECO:0000269|PubMed:10951563}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-36637
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
03/12/2015

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • osteogenesis imperfecta type 8 Monarch
HI Evidence Comments:
Variants in LEPRE1 have been identified in individuals with osteogenesis imperfecta type VIII, an autosomal recessive condition.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000001.10) (NC_000001.11)