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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:Q02543AlphaFoldGenCCjaxSfariGnomADPubmed

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 (2 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.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous 0
missense 2 2
nonsense 0
start loss 0
frameshift 0
inframe indel 0
splice variant 0
non coding 0
Total 0 0 2 0 0

Variants in RPL18A

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

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

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