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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
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)