• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
PEX14 (HGNC:8856) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
peroxisomal biogenesis factor 14
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
No aliases found
%HI
19.48(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.23(Read more about gnomAD pLI score)
LOEUF
0.52(Read more about gnomAD LOEUF score)
Cytoband
1p36.22
Genomic Coordinates
GRCh37/hg19: chr1:10535007-10690815 NCBI Ensembl UCSC
GRCh38/hg38: chr1:10474950-10630758 NCBI Ensembl UCSC
MANE Select Transcript
NM_004565.3 ENST00000356607.9 (Read more about MANE Select)
Function
Component of the PEX13-PEX14 docking complex, a translocon channel that specifically mediates the import of peroxisomal cargo proteins bound to PEX5 receptor (PubMed:9653144, PubMed:24235149, PubMed:28765278). The PEX13-PEX14 docking complex forms a large import pore which can be opened to a diameter of about 9 nm (By similarity). Mechanistically, PEX5 receptor along with cargo proteins associates with the PEX14 subunit of the PEX13-PEX14 docking complex in the cytosol, leading to the insertion ... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-26620
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • peroxisome biogenesis disorder 13A (Zellweger) Monarch

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)