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GeneBe

RPLP0

ribosomal protein lateral stalk subunit P0, the group of L ribosomal proteins

Basic information

Region (hg38): 12:120196698-120201235

Links

ENSG00000089157NCBI:6175OMIM:180510HGNC:10371Uniprot:P05388AlphaFoldGenCCjaxSfariGnomADPubmed

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RPLP0 gene.

  • 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)link
12-120197350-G-A Inborn genetic diseases Uncertain significance (Apr 07, 2023)link
12-120197386-T-C Inborn genetic diseases Uncertain significance (Jun 22, 2023)link
12-120197455-C-T Inborn genetic diseases Uncertain significance (Feb 28, 2023)link
12-120198564-C-T Inborn genetic diseases Uncertain significance (Jul 15, 2021)link
12-120198592-C-G Inborn genetic diseases Uncertain significance (Nov 07, 2022)link
12-120198609-T-C Inborn genetic diseases Uncertain significance (Oct 27, 2021)link
12-120198714-C-G Inborn genetic diseases Uncertain significance (Apr 05, 2023)link
12-120199133-C-T Inborn genetic diseases Uncertain significance (Oct 26, 2022)link
12-120199160-C-T Benign (Mar 29, 2018)link
12-120199370-T-C Inborn genetic diseases Uncertain significance (Dec 19, 2022)link
12-120200749-T-C Inborn genetic diseases Uncertain significance (Jun 21, 2023)link

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RPLP0protein_codingprotein_codingENST00000551150 74550
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.7680.232125745031257480.0000119
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.621251880.6660.00001022068
Missense in Polyphen1125.3460.43399351
Synonymous-0.7908172.51.120.00000403659
Loss of Function2.91213.60.1477.65e-7149

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00006150.0000615
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.00001800.00000879
Middle Eastern0.000.00
South Asian0.00003270.0000327
Other0.000.00

dbNSFP

Source: dbNSFP

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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