P3H1 |
- 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)