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
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- 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) | ||
| 8-98027505-G-A | Inborn genetic diseases | Uncertain significance (May 09, 2022) | ||
| 8-98027656-T-C | Inborn genetic diseases | Uncertain significance (May 27, 2022) | ||
| 8-98027715-C-A | Inborn genetic diseases | Uncertain significance (Sep 12, 2023) | ||
| 8-98030470-A-G | Inborn genetic diseases | Uncertain significance (Jun 22, 2023) | ||
| 8-98030578-G-A | Inborn genetic diseases | Uncertain significance (Aug 02, 2022) | ||
| 8-98032257-T-G | Inborn genetic diseases | Uncertain significance (Feb 23, 2023) | ||
| 8-98032271-G-C | Inborn genetic diseases | Uncertain significance (Apr 13, 2022) | ||
| 8-98032293-C-T | Inborn genetic diseases | Uncertain significance (Mar 06, 2023) | ||
| 8-98033138-G-A | Inborn genetic diseases | Uncertain significance (Feb 02, 2022) | ||
| 8-98033577-A-T | Inborn genetic diseases | Uncertain significance (Jun 07, 2023) | ||
| 8-98033584-G-A | Inborn genetic diseases | Uncertain significance (Dec 27, 2022) | ||
| 8-98035666-T-C | Inborn genetic diseases | Uncertain significance (Apr 08, 2022) | ||
| 8-98042703-T-G | Inborn genetic diseases | Uncertain significance (Oct 06, 2022) | ||
| 8-98045044-C-T | Inborn genetic diseases | Uncertain significance (Sep 30, 2021) |
GnomAD
Source:
| 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:
- 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