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RPL34

ribosomal protein L34, the group of L ribosomal proteins

Basic information

Region (hg38): 4:108620568-108630412

Links

ENSG00000109475NCBI:6164OMIM:616862HGNC:10340Uniprot:P49207AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RPL34 gene.

  • Inborn genetic diseases (3 variants)
  • not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RPL34 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
2
clinvar
2
missense
3
clinvar
3
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 3 2 0

Variants in RPL34

This is a list of pathogenic ClinVar variants found in the RPL34 region.

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

Position Type Phenotype Significance ClinVar
4-108621975-A-C not specified Uncertain significance (Apr 08, 2022)2279408
4-108621977-A-C Likely benign (Mar 01, 2022)2655019
4-108621979-A-C not specified Uncertain significance (Jan 10, 2023)2473342
4-108622163-C-T not specified Uncertain significance (Feb 02, 2022)2395557
4-108622515-G-A not specified Uncertain significance (Dec 15, 2023)3156077
4-108625149-C-T Likely benign (Dec 01, 2022)2655020

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RPL34protein_codingprotein_codingENST00000394668 49847
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.7090.288124995031249980.0000120
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.403871.40.5320.00000431743
Missense in Polyphen47.78520.5138121
Synonymous-1.313022.11.350.00000108236
Loss of Function2.3618.370.1205.92e-783

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)0.00002650.0000265
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
0.130

Intolerance Scores

loftool
rvis_EVS
-0.08
rvis_percentile_EVS
47.79

Haploinsufficiency Scores

pHI
0.130
hipred
Y
hipred_score
0.756
ghis
0.634

Essentials

essential_gene_CRISPR
E
essential_gene_CRISPR2
essential_gene_gene_trap
E
gene_indispensability_pred
E
gene_indispensability_score
0.756

Gene Damage Prediction

AllRecessiveDominant
MendelianLowLowLow
Primary ImmunodeficiencyMediumLowMedium
CancerLowLowLow

Mouse Genome Informatics

Gene name
Rpl34
Phenotype

Gene ontology

Biological process
nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;translation;translational initiation;SRP-dependent cotranslational protein targeting to membrane
Cellular component
endoplasmic reticulum;cytosol;cytosolic large ribosomal subunit;extracellular exosome
Molecular function
RNA binding;structural constituent of ribosome;cadherin binding