RPLP0
ribosomal protein lateral stalk subunit P0, the group of L ribosomal proteins
Basic information
Region (hg38): 12:120196698-120201235
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (6 variants)
- not provided (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the RPLP0 gene is commonly pathogenic or not.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 1 | ||||
| missense | 6 | 6 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice variant | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 6 | 0 | 1 |
Variants in RPLP0
This is a list of pathogenic ClinVar variants found in the RPLP0 region.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 12-120196807-G-A | Inborn genetic diseases | Uncertain significance (Mar 29, 2022) | ||
| 12-120197350-G-A | Inborn genetic diseases | Uncertain significance (Apr 07, 2023) | ||
| 12-120197386-T-C | Inborn genetic diseases | Uncertain significance (Jun 22, 2023) | ||
| 12-120197455-C-T | Inborn genetic diseases | Uncertain significance (Feb 28, 2023) | ||
| 12-120198564-C-T | Inborn genetic diseases | Uncertain significance (Jul 15, 2021) | ||
| 12-120198592-C-G | Inborn genetic diseases | Uncertain significance (Nov 07, 2022) | ||
| 12-120198609-T-C | Inborn genetic diseases | Uncertain significance (Oct 27, 2021) | ||
| 12-120198714-C-G | Inborn genetic diseases | Uncertain significance (Apr 05, 2023) | ||
| 12-120199133-C-T | Inborn genetic diseases | Uncertain significance (Oct 26, 2022) | ||
| 12-120199160-C-T | Benign (Mar 29, 2018) | |||
| 12-120199370-T-C | Inborn genetic diseases | Uncertain significance (Dec 19, 2022) | ||
| 12-120200749-T-C | Inborn genetic diseases | Uncertain significance (Jun 21, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| RPLP0 | protein_coding | protein_coding | ENST00000551150 | 7 | 4550 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.768 | 0.232 | 125745 | 0 | 3 | 125748 | 0.0000119 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.62 | 125 | 188 | 0.666 | 0.0000102 | 2068 |
| Missense in Polyphen | 11 | 25.346 | 0.43399 | 351 | ||
| Synonymous | -0.790 | 81 | 72.5 | 1.12 | 0.00000403 | 659 |
| Loss of Function | 2.91 | 2 | 13.6 | 0.147 | 7.65e-7 | 149 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000615 | 0.0000615 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000180 | 0.00000879 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000327 | 0.0000327 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Ribosomal protein P0 is the functional equivalent of E.coli protein L10.;
- Pathway
- Ribosome - Homo sapiens (human);Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation;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;EGFR1;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
- 0.281
Intolerance Scores
- loftool
- rvis_EVS
- -0.03
- rvis_percentile_EVS
- 51.4
Haploinsufficiency Scores
- pHI
- 0.997
- hipred
- Y
- hipred_score
- 0.756
- ghis
- 0.581
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.933
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Rplp0
- Phenotype
Zebrafish Information Network
- Gene name
- rplp0
- Affected structure
- post-vent region
- Phenotype tag
- abnormal
- Phenotype quality
- bent
Gene ontology
- Biological process
- ribosomal large subunit assembly;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;cytoplasmic translation;translation;translational initiation;SRP-dependent cotranslational protein targeting to membrane;interleukin-12-mediated signaling pathway
- Cellular component
- nucleus;cytoplasm;endoplasmic reticulum;cytosol;focal adhesion;postsynaptic density;membrane;cytosolic large ribosomal subunit;cytoplasmic ribonucleoprotein granule;extracellular exosome;postsynapse;ribonucleoprotein complex
- Molecular function
- RNA binding;structural constituent of ribosome;protein binding;large ribosomal subunit rRNA binding