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RPL30

ribosomal protein L30, the group of Small nucleolar RNA protein coding host genes|L ribosomal proteins

Basic information

Region (hg38): 8:98024850-98046469

Links

ENSG00000156482NCBI:6156OMIM:180467HGNC:10333Uniprot:P62888AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RPL30 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 RPL30 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
0
missense
2
clinvar
2
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 2 0 0

Variants in RPL30

This is a list of pathogenic ClinVar variants found in the RPL30 region.

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

Position Type Phenotype Significance ClinVar
8-98027434-T-C not specified Uncertain significance (Jun 28, 2023)2594649
8-98027505-G-A not specified Uncertain significance (May 09, 2022)2288169
8-98027547-G-A not specified Uncertain significance (Dec 26, 2023)3123969
8-98027656-T-C not specified Uncertain significance (May 27, 2022)2292554
8-98027715-C-A not specified Uncertain significance (Sep 12, 2023)2622849
8-98027764-T-C not specified Uncertain significance (Nov 20, 2023)3123970
8-98030470-A-G not specified Uncertain significance (Jun 22, 2023)2605549
8-98030578-G-A not specified Uncertain significance (Aug 02, 2022)2395399
8-98032257-T-G not specified Uncertain significance (Feb 23, 2023)2488408
8-98032271-G-C not specified Uncertain significance (Apr 13, 2022)2283952
8-98032293-C-T not specified Uncertain significance (Mar 06, 2023)2494503
8-98033112-T-C Likely benign (Apr 01, 2022)2658704
8-98033137-C-T not specified Uncertain significance (Mar 07, 2024)3123972
8-98033138-G-A not specified Uncertain significance (Feb 02, 2022)2406472
8-98033577-A-T not specified Uncertain significance (Jun 07, 2023)2558374
8-98033584-G-A not specified Uncertain significance (Dec 27, 2022)2339634
8-98035666-T-C not specified Uncertain significance (Apr 08, 2022)2212032
8-98042703-T-G not specified Uncertain significance (Oct 06, 2022)2317717
8-98045044-C-T not specified Uncertain significance (Sep 30, 2021)2252834

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RPL30protein_codingprotein_codingENST00000521291 421619
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.8470.15100000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.991760.70.2800.00000269751
Missense in Polyphen14.63740.2156475
Synonymous-0.05712423.61.010.00000113209
Loss of Function2.3006.160.002.58e-781

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Pathway
Ribosome - Homo sapiens (human);Selenium Metabolism and Selenoproteins;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;TNFalpha;Peptide chain elongation;Eukaryotic Translation Elongation;GTP hydrolysis and joining of the 60S ribosomal subunit;Cap-dependent Translation Initiation (Consensus)

Recessive Scores

pRec
0.280

Intolerance Scores

loftool
rvis_EVS
0.04
rvis_percentile_EVS
56.25

Haploinsufficiency Scores

pHI
0.815
hipred
Y
hipred_score
0.656
ghis
0.656

Essentials

essential_gene_CRISPR
E
essential_gene_CRISPR2
essential_gene_gene_trap
H
gene_indispensability_pred
E
gene_indispensability_score
0.588

Mouse Genome Informatics

Gene name
Rpl30
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;killing of cells of other organism;defense response to Gram-negative bacterium;antimicrobial humoral immune response mediated by antimicrobial peptide
Cellular component
nucleus;cytosol;focal adhesion;postsynaptic density;membrane;cytosolic large ribosomal subunit;polysomal ribosome;extracellular exosome
Molecular function
RNA binding;structural constituent of ribosome;protein binding