RPL15
  • 1
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
RPL15 (HGNC:10306) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
ribosomal protein L15
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
RPL10, RPLY10, RPYL10, EC45, L15, eL15
%HI
21.68(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.13(Read more about gnomAD LOEUF score)
Cytoband
3p24.2
Genomic Coordinates
GRCh37/hg19: chr3:23958036-23966122 NCBI Ensembl UCSC
GRCh38/hg38: chr3:23916545-23924631 NCBI Ensembl UCSC
MANE Select Transcript
NM_002948.5 ENST00000307839.10 (Read more about MANE Select)
Function
Component of the large ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. {ECO:0000269|PubMed:23636399, ECO:0000269|PubMed:32669547}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-22846
ClinGen Curation ID:
CCID:007783
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Little Evidence for Haploinsufficiency (1)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
07/16/2014

Haploinsufficiency (HI) Score Details

HI Score:
1
HI Evidence Strength:
Little Evidence for Haploinsufficiency (Disclaimer)
HI Evidence:
  • PUBMED: 23812780
    Landowski et al. 2013 studied 87 unrelated patients with a clinical diagnosis of Diamond Blackfan Anemia (DBA) (thought to be a disorder of ribosome biogenesis and/or function); all patients had previously had negative sequencing studies of all currently known ribosomal protein (RP) genes. The authors screened the patients using an array with enriched coverage over known RP genes and 117 additional genes "shown to be involved in human ribosomal biogenesis or homologous to yeast pre-ribosomal factors." They identified 6 deletions in RP genes amongst 6 patients, including a 2.4 kb deletion including exon 4 of RPL15. Parents of this individual were not available for testing. The authors showed defects in pre-ribosomal RNA process in cells derived from the patient [that were similar to processing defects found in HeLa cells after RPL15 knockdown].

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000003.11) (NC_000003.12)