PREPL
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
PREPL (HGNC:30228) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
prolyl endopeptidase like
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
KIAA0436
%HI
39.97(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.25(Read more about gnomAD LOEUF score)
Cytoband
2p21
Genomic Coordinates
GRCh37/hg19: chr2:44544746-44589001 NCBI Ensembl UCSC
GRCh38/hg38: chr2:44317607-44361862 NCBI Ensembl UCSC
MANE Select Transcript
NM_001171613.2 ENST00000409411.6 (Read more about MANE Select)
Function
Serine peptidase whose precise substrate specificity remains unclear (PubMed:16143824, PubMed:16385448, PubMed:28726805). Does not cleave peptides after a arginine or lysine residue (PubMed:16143824). Regulates trans-Golgi network morphology and sorting by regulating the membrane binding of the AP-1 complex (PubMed:23321636). May play a role in the regulation of synaptic vesicle exocytosis (PubMed:24610330). {ECO:0000269|PubMed:16143824, ECO:0000269|PubMed:16385448, ECO:0000269|PubMed:23321636, ... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-23484
ClinGen Curation ID:
CCID:007711
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Related Links:
Last Evaluated:
03/21/2012

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • myasthenic syndrome, congenital, 22 Monarch
HI Evidence Comments:
Jaeken et al. describe 11 patients from 9 reportedly unrelated families from Belgium and France. 4 different sized deletions were found, each involving only SLC3A1 and PREPL. Patients were either homozgyous or compound heterozygous for these particular deletions. Heterozygous deletions were found in each of the parents, when available. Expression studies in one patient revealed normal expression patterns for PP2Cβ and C2orf34, the other two genes implicated in the earlier report. Phenotype included cystinuria, known to be associated with AR loss of function mutations in SLC3A1, as well as hypotonia, dysmorphic features, etc. The authors hypothesize that these additional features can be attributed to the homozygous deletion involving PREP (16385448). Note that this phenotype has been associated with homozygous deletions. Abnormal phenotype was not reported for available parents (heterozygous deletion carriers).

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000002.11) (NC_000002.12)