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RPL29

ribosomal protein L29, the group of L ribosomal proteins

Basic information

Region (hg38): 3:51993521-51995895

Previous symbols: [ "RPL29P10" ]

Links

ENSG00000162244NCBI:6159OMIM:601832HGNC:10331Uniprot:P47914AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RPL29 gene.

  • Inborn genetic diseases (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RPL29 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
4
clinvar
4
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 4 0 0

Variants in RPL29

This is a list of pathogenic ClinVar variants found in the RPL29 region.

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

Position Type Phenotype Significance ClinVar
3-51993904-G-A not specified Uncertain significance (Jun 18, 2021)2233667
3-51993909-C-T not specified Uncertain significance (Apr 18, 2023)2508685
3-51993982-G-A not specified Uncertain significance (Mar 24, 2023)2529209
3-51994040-C-G not specified Uncertain significance (Dec 28, 2022)2374436
3-51994081-T-C not specified Uncertain significance (Dec 18, 2023)3156063

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RPL29protein_codingprotein_codingENST00000466397 32343
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.1950.763125701031257040.0000119
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.360911010.8990.000006251024
Missense in Polyphen87.87431.016129
Synonymous0.02513434.20.9950.00000179317
Loss of Function1.6926.730.2974.89e-765

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00006600.0000615
Ashkenazi Jewish0.0001020.0000992
East Asian0.00005530.0000544
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.00005530.0000544
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Component of the large ribosomal subunit. {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
0.242

Intolerance Scores

loftool
rvis_EVS
-0.1
rvis_percentile_EVS
46.2

Haploinsufficiency Scores

pHI
0.961
hipred
Y
hipred_score
0.627
ghis
0.629

Essentials

essential_gene_CRISPR
E
essential_gene_CRISPR2
E
essential_gene_gene_trap
E
gene_indispensability_pred
E
gene_indispensability_score
0.965

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Rpl29
Phenotype
skeleton phenotype; embryo phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive system phenotype; cellular phenotype; growth/size/body region 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;embryo implantation
Cellular component
cytosol;membrane;cytosolic large ribosomal subunit
Molecular function
RNA binding;structural constituent of ribosome;heparin binding;cadherin binding