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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
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)