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RPL18

ribosomal protein L18, the group of L ribosomal proteins

Basic information

Region (hg38): 19:48615327-48619184

Links

ENSG00000063177NCBI:6141OMIM:604179HGNC:10310Uniprot:Q07020AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • Diamond-Blackfan anemia 18 (Moderate), mode of inheritance: AD
  • Diamond-Blackfan anemia (Supportive), mode of inheritance: AD
  • Diamond-Blackfan anemia 18 (Limited), mode of inheritance: AD
  • Diamond-Blackfan anemia 18 (Limited), mode of inheritance: Unknown

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Diamond-Blackfan anemia 18ADHematologic; OncologicSpecific treatment of anemia (eg, steroids, regular transfusions) can be effective; Surveillance for and early treatment of malignancy may be beneficialHematologic; Oncologic28280134

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RPL18 gene.

  • not provided (48 variants)
  • Inborn genetic diseases (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RPL18 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
10
clinvar
1
clinvar
12
missense
16
clinvar
1
clinvar
17
nonsense
1
clinvar
1
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
3
2
5
non coding
7
clinvar
13
clinvar
20
Total 0 0 18 18 14

Variants in RPL18

This is a list of pathogenic ClinVar variants found in the RPL18 region.

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

Position Type Phenotype Significance ClinVar
19-48615375-G-A Likely benign (Jan 02, 2024)2881433
19-48615389-G-A Uncertain significance (Jun 23, 2023)2876415
19-48615400-C-T Uncertain significance (Apr 09, 2022)2416443
19-48615413-G-A Uncertain significance (Jun 04, 2023)2763024
19-48615417-G-A Likely benign (Sep 30, 2022)2058557
19-48615423-C-T Likely benign (Sep 12, 2022)2030120
19-48615425-G-A Uncertain significance (Aug 11, 2023)2875572
19-48615440-C-T Uncertain significance (Jun 16, 2023)2869545
19-48615446-G-A Uncertain significance (Dec 09, 2022)2812366
19-48615450-G-A Uncertain significance (Jan 06, 2024)2781170
19-48615455-G-A Likely benign (Feb 27, 2023)2841361
19-48615459-G-C Likely benign (May 16, 2022)1995313
19-48615460-G-C Likely benign (Dec 04, 2023)2868779
19-48615461-AG-A Benign (Dec 01, 2023)1972306
19-48615463-G-A Benign (Jan 05, 2024)1971450
19-48615466-G-T Likely benign (Jan 31, 2022)2086402
19-48615864-G-A Likely benign (Nov 15, 2023)2781687
19-48615888-G-A Likely benign (Oct 04, 2022)2182064
19-48615890-G-A Uncertain significance (Jul 31, 2023)2748833
19-48615892-G-A Uncertain significance (Jul 07, 2023)2776002
19-48615896-T-C Uncertain significance (Apr 03, 2023)2802058
19-48615911-C-T Inborn genetic diseases Uncertain significance (Jun 16, 2023)2600658
19-48615919-C-T Uncertain significance (Nov 13, 2023)2413928
19-48615920-G-A Inborn genetic diseases Uncertain significance (May 31, 2022)2293393
19-48615931-C-T Uncertain significance (Apr 29, 2023)2895168

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RPL18protein_codingprotein_codingENST00000549920 74209
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.9660.033500000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.85761370.5550.00001021196
Missense in Polyphen520.4870.24405280
Synonymous-1.726347.81.320.00000273404
Loss of Function3.01010.50.006.19e-7117

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 Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Component of the large ribosomal subunit. {ECO:0000269|PubMed:23636399, ECO:0000269|PubMed:25901680, ECO:0000269|PubMed:25957688, ECO:0000305|PubMed:12962325}.;
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
0.203

Intolerance Scores

loftool
rvis_EVS
-0.25
rvis_percentile_EVS
35.42

Haploinsufficiency Scores

pHI
0.869
hipred
Y
hipred_score
0.840
ghis
0.668

Essentials

essential_gene_CRISPR
E
essential_gene_CRISPR2
E
essential_gene_gene_trap
E
gene_indispensability_pred
E
gene_indispensability_score
0.973

Mouse Genome Informatics

Gene name
Rpl18
Phenotype

Gene ontology

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