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GeneBe

RPL27

ribosomal protein L27, the group of L ribosomal proteins

Basic information

Region (hg38): 17:42998272-43002959

Links

ENSG00000131469NCBI:6155OMIM:607526HGNC:10328Uniprot:P61353AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • Diamond-Blackfan anemia 16 (Limited), mode of inheritance: AD
  • Diamond-Blackfan anemia 16 (Limited), mode of inheritance: Unknown

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Diamond-Blackfan anemia 16ADCardiovascular; Hematologic; OncologicSpecific treatment of anemia (eg, steroids, regular transfusions) can be effective; Surveillance for and early treatment of malignancy may allow early detection and management; Individuals with DBA may manifest a variety of congenital malformations (eg, cardiac anomalies), and awareness may allow prompt detection and managementCardiovascular; Hematologic; Oncologic25424902

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RPL27 gene.

  • not provided (26 variants)
  • not specified (3 variants)
  • RPL27-related condition (3 variants)
  • Diamond-Blackfan anemia 16 (2 variants)
  • Inborn genetic diseases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RPL27 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
1
clinvar
7
clinvar
8
missense
11
clinvar
11
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
?
0
non coding
?
1
clinvar
1
clinvar
10
clinvar
12
Total 0 0 13 8 10

Variants in RPL27

This is a list of pathogenic ClinVar variants found in the RPL27 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
17-42998447-TG-T Benign (Jun 19, 2021)1270607
17-42998454-G-C Benign (Oct 15, 2020)1240832
17-42998504-C-T Benign (Jun 19, 2021)1182827
17-42998748-G-A Diamond-Blackfan anemia 16 Pathogenic (Mar 28, 2017)417776
17-42998756-C-T RPL27-related condition Uncertain significance (Sep 14, 2023)2631045
17-42998783-G-A not specified Likely benign (Oct 08, 2021)1338117
17-42998787-G-C Uncertain significance (Jun 18, 2022)2008104
17-42998811-C-G Inborn genetic diseases Uncertain significance (May 11, 2022)2406638
17-42998817-G-T RPL27-related condition Uncertain significance (Jun 13, 2023)2632200
17-42998825-C-T Likely benign (May 17, 2023)744056
17-42998899-G-A Likely benign (Apr 01, 2023)2570988
17-42998932-G-A Benign (May 14, 2021)1251530
17-42998966-T-C Benign (May 14, 2021)1292753
17-42999726-G-A Benign (May 14, 2021)1263870
17-42999941-T-C Likely benign (Jan 25, 2024)727027
17-42999946-G-T Uncertain significance (May 10, 2022)2086973
17-42999993-C-T Uncertain significance (May 04, 2022)2131996
17-42999996-TAC-CAG not specified Uncertain significance (Nov 02, 2022)1804699
17-43000018-C-T Uncertain significance (Oct 16, 2023)2769130
17-43000031-G-A Benign/Likely benign (Apr 01, 2023)715462
17-43000037-C-T Likely benign (Oct 05, 2022)1972174
17-43000075-A-G Uncertain significance (Sep 09, 2022)1976131
17-43002447-C-G Benign (May 25, 2021)1292743
17-43002473-G-C Benign (May 25, 2021)1221528
17-43002583-C-T Benign (May 14, 2021)1290197

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RPL27protein_codingprotein_codingENST00000589913 44687
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.8500.147125740011257410.00000398
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.145483.30.6480.00000488884
Missense in Polyphen69.77010.61412158
Synonymous-1.704028.51.400.00000137264
Loss of Function2.3106.240.003.45e-782

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.00003270.0000327
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Component of the large ribosomal subunit (PubMed:12962325, PubMed:23636399, PubMed:25957688, PubMed:25901680). Required for proper rRNA processing and maturation of 28S and 5.8S rRNAs (PubMed:25424902). {ECO:0000269|PubMed:23636399, ECO:0000269|PubMed:25424902, ECO:0000269|PubMed:25901680, ECO:0000269|PubMed:25957688, ECO:0000305|PubMed:12962325}.;
Disease
DISEASE: Diamond-Blackfan anemia 16 (DBA16) [MIM:617408]: A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. {ECO:0000269|PubMed:25424902}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
Pathway
Ribosome - Homo sapiens (human);Cytoplasmic Ribosomal Proteins;SRP-dependent cotranslational protein targeting to membrane;Eukaryotic Translation Initiation;Eukaryotic Translation Termination;Translation;Selenocysteine synthesis;Metabolism of proteins;Metabolism of amino acids and derivatives;Metabolism of RNA;Formation of a pool of free 40S subunits;Metabolism;Nonsense-Mediated Decay (NMD);Selenoamino acid metabolism;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Peptide chain elongation;Eukaryotic Translation Elongation;GTP hydrolysis and joining of the 60S ribosomal subunit;Cap-dependent Translation Initiation (Consensus)

Recessive Scores

pRec
0.163

Intolerance Scores

loftool
rvis_EVS
-0.21
rvis_percentile_EVS
38.28

Haploinsufficiency Scores

pHI
0.857
hipred
Y
hipred_score
0.723
ghis
0.638

Essentials

essential_gene_CRISPR
E
essential_gene_CRISPR2
S
essential_gene_gene_trap
E
gene_indispensability_pred
E
gene_indispensability_score
0.914

Mouse Genome Informatics

Gene name
Rpl27
Phenotype

Zebrafish Information Network

Gene name
rpl27
Affected structure
nucleate erythrocyte
Phenotype tag
abnormal
Phenotype quality
decreased amount

Gene ontology

Biological process
nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;rRNA processing;translation;translational initiation;SRP-dependent cotranslational protein targeting to membrane
Cellular component
nucleus;cytosol;ribosome;focal adhesion;membrane;cytosolic large ribosomal subunit;extracellular exosome;cytoplasmic side of rough endoplasmic reticulum membrane;ribonucleoprotein complex
Molecular function
RNA binding;structural constituent of ribosome;protein binding