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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:P47914AlphaFoldGenCCjaxSfariGnomADPubmed

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 (2 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.

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 RPL29

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

Position Type Phenotype Significance ClinVar
3-51993904-G-A Inborn genetic diseases Uncertain significance (Jun 18, 2021)link
3-51993909-C-T Inborn genetic diseases Uncertain significance (Apr 18, 2023)link
3-51993982-G-A Inborn genetic diseases Uncertain significance (Mar 24, 2023)link
3-51994040-C-G Inborn genetic diseases Uncertain significance (Dec 28, 2022)link

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