RPL29
ribosomal protein L29, the group of L ribosomal proteins
Basic information
Region (hg38): 3:51993521-51995895
Previous symbols: [ "RPL29P10" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- 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) | ||
3-51993909-C-T | Inborn genetic diseases | Uncertain significance (Apr 18, 2023) | ||
3-51993982-G-A | Inborn genetic diseases | Uncertain significance (Mar 24, 2023) | ||
3-51994040-C-G | Inborn genetic diseases | Uncertain significance (Dec 28, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
RPL29 | protein_coding | protein_coding | ENST00000466397 | 3 | 2343 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.195 | 0.763 | 125701 | 0 | 3 | 125704 | 0.0000119 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.360 | 91 | 101 | 0.899 | 0.00000625 | 1024 |
Missense in Polyphen | 8 | 7.8743 | 1.016 | 129 | ||
Synonymous | 0.0251 | 34 | 34.2 | 0.995 | 0.00000179 | 317 |
Loss of Function | 1.69 | 2 | 6.73 | 0.297 | 4.89e-7 | 65 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000660 | 0.0000615 |
Ashkenazi Jewish | 0.000102 | 0.0000992 |
East Asian | 0.0000553 | 0.0000544 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.00 | 0.00 |
Middle Eastern | 0.0000553 | 0.0000544 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- 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
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
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