RPLP0

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

Basic information

Region (hg38): 12:120196698-120201235

Links

ENSG00000089157 ∙ NCBI:6175 ∙ OMIM:180510 ∙ HGNC:10371 ∙ Uniprot:P05388 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

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 (11 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.

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					1	1
missense			11			11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	0	1

Variants in RPLP0

This is a list of pathogenic ClinVar variants found in the RPLP0 region.

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

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: gnomAD

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: 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

• 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

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