POMP
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
POMP (HGNC:20330) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
proteasome maturation protein
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
C13orf12
Alias symbols
HSPC014, UMP1
%HI
11.76(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.02(Read more about gnomAD pLI score)
LOEUF
1.19(Read more about gnomAD LOEUF score)
Cytoband
13q12.3
Genomic Coordinates
GRCh37/hg19: chr13:29233267-29253096 NCBI Ensembl UCSC
GRCh38/hg38: chr13:28659130-28678959 NCBI Ensembl UCSC
MANE Select Transcript
NM_015932.6 ENST00000380842.5 (Read more about MANE Select)
Function
Molecular chaperone essential for the assembly of standard proteasomes and immunoproteasomes. Degraded after completion of proteasome maturation. Mediates the association of 20S preproteasome with the endoplasmic reticulum. {ECO:0000269|PubMed:15944226, ECO:0000269|PubMed:16251969, ECO:0000269|PubMed:17948026}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-36525
ClinGen Curation ID:
CCID:007696
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...
Last Evaluated:
08/27/2015

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome Monarch
HI Evidence Comments:
Variants in POMP have described in individuals with keratosis linearis with ichthyosis congenita and sclerosing keratoderma, an autosomal recessive condition.

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000013.10) (NC_000013.11)