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

ENSG00000156482 ∙ NCBI:6156 ∙ OMIM:180467 ∙ HGNC:10333 ∙ Uniprot:P62888 ∙ 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 RPL30 gene.

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			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)
8-98027505-G-A		not specified	Uncertain significance (May 09, 2022)
8-98027547-G-A		not specified	Uncertain significance (Dec 26, 2023)
8-98027656-T-C		not specified	Uncertain significance (May 27, 2022)
8-98027715-C-A		not specified	Uncertain significance (Sep 12, 2023)
8-98027764-T-C		not specified	Uncertain significance (Nov 20, 2023)
8-98030470-A-G		not specified	Uncertain significance (Jun 22, 2023)
8-98030578-G-A		not specified	Uncertain significance (Aug 02, 2022)
8-98032257-T-G		not specified	Uncertain significance (Feb 23, 2023)
8-98032271-G-C		not specified	Uncertain significance (Apr 13, 2022)
8-98032293-C-T		not specified	Uncertain significance (Mar 06, 2023)
8-98033112-T-C			Likely benign (Apr 01, 2022)
8-98033137-C-T		not specified	Uncertain significance (Mar 07, 2024)
8-98033138-G-A		not specified	Uncertain significance (Feb 02, 2022)
8-98033577-A-T		not specified	Uncertain significance (Jun 07, 2023)
8-98033584-G-A		not specified	Uncertain significance (Dec 27, 2022)
8-98035666-T-C		not specified	Uncertain significance (Apr 08, 2022)
8-98042703-T-G		not specified	Uncertain significance (Oct 06, 2022)
8-98045044-C-T		not specified	Uncertain significance (Sep 30, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RPL30	protein_coding	protein_coding	ENST00000521291	4	21619

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.847	0.151	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.99	17	60.7	0.280	0.00000269	751
Missense in Polyphen		1	4.6374	0.21564		75
Synonymous	-0.0571	24	23.6	1.01	0.00000113	209
Loss of Function	2.30	0	6.16	0.00	2.58e-7	81

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

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

• 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_gene_trap: H
• gene_indispensability_pred: E
• gene_indispensability_score: 0.588

Mouse Genome Informatics

• Gene name: Rpl30

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