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GeneBe

RPL18A

ribosomal protein L18a, the group of L ribosomal proteins|Small nucleolar RNA protein coding host genes

Basic information

Region (hg38): 19:17859909-17864153

Links

ENSG00000105640NCBI:6142OMIM:604178HGNC:10311Uniprot:Q02543AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RPL18A gene.

  • Inborn genetic diseases (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RPL18A 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
0
missense
6
clinvar
6
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 6 0 0

Variants in RPL18A

This is a list of pathogenic ClinVar variants found in the RPL18A region.

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

Position Type Phenotype Significance ClinVar
19-17859966-T-G Inborn genetic diseases Uncertain significance (Aug 17, 2022)2308416
19-17861306-A-G Inborn genetic diseases Uncertain significance (Mar 31, 2023)2531917
19-17861366-G-A Inborn genetic diseases Uncertain significance (Feb 27, 2023)2489830
19-17862987-C-T Inborn genetic diseases Uncertain significance (Aug 02, 2021)2396136
19-17863001-C-T Inborn genetic diseases Uncertain significance (May 08, 2023)2515728
19-17863002-G-A Inborn genetic diseases Uncertain significance (Jul 19, 2023)2602143

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RPL18Aprotein_codingprotein_codingENST00000222247 54278
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.9820.0177123432011234330.00000405
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.35861290.6660.000009671132
Missense in Polyphen621.1980.28304272
Synonymous-1.025647.11.190.00000307351
Loss of Function3.25012.30.009.50e-7108

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.00004840.0000484
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

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
0.129

Intolerance Scores

loftool
rvis_EVS
-0.32
rvis_percentile_EVS
31.46

Haploinsufficiency Scores

pHI
0.645
hipred
Y
hipred_score
0.783
ghis
0.601

Essentials

essential_gene_CRISPR
E
essential_gene_CRISPR2
S
essential_gene_gene_trap
E
gene_indispensability_pred
E
gene_indispensability_score
0.933

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Rpl18a
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;response to antineoplastic agent
Cellular component
cytosol;postsynaptic density;membrane;cytosolic large ribosomal subunit;polysomal ribosome
Molecular function
RNA binding;structural constituent of ribosome;protein binding