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GeneBe

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:P62888AlphaFoldGenCCjaxSfariGnomADPubmed

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 (9 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.

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 7 7
Total 0 0 9 0 0

Variants in RPL30

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

Position Type Phenotype Significance ClinVar
8-98027434-T-C Inborn genetic diseases Uncertain significance (Jun 28, 2023)link
8-98027505-G-A Inborn genetic diseases Uncertain significance (May 09, 2022)link
8-98027656-T-C Inborn genetic diseases Uncertain significance (May 27, 2022)link
8-98027715-C-A Inborn genetic diseases Uncertain significance (Sep 12, 2023)link
8-98030470-A-G Inborn genetic diseases Uncertain significance (Jun 22, 2023)link
8-98030578-G-A Inborn genetic diseases Uncertain significance (Aug 02, 2022)link
8-98032257-T-G Inborn genetic diseases Uncertain significance (Feb 23, 2023)link
8-98032271-G-C Inborn genetic diseases Uncertain significance (Apr 13, 2022)link
8-98032293-C-T Inborn genetic diseases Uncertain significance (Mar 06, 2023)link
8-98033138-G-A Inborn genetic diseases Uncertain significance (Feb 02, 2022)link
8-98033577-A-T Inborn genetic diseases Uncertain significance (Jun 07, 2023)link
8-98033584-G-A Inborn genetic diseases Uncertain significance (Dec 27, 2022)link
8-98035666-T-C Inborn genetic diseases Uncertain significance (Apr 08, 2022)link
8-98042703-T-G Inborn genetic diseases Uncertain significance (Oct 06, 2022)link
8-98045044-C-T Inborn genetic diseases Uncertain significance (Sep 30, 2021)link

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