RPL18A
ribosomal protein L18a, the group of L ribosomal proteins|Small nucleolar RNA protein coding host genes
Basic information
Region (hg38): 19:17859909-17864153
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (2 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the RPL18A 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 | 0 | |||||
Total | 0 | 0 | 2 | 0 | 0 |
Variants in RPL18A
This is a list of pathogenic ClinVar variants found in the RPL18A region.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
19-17859966-T-G | Inborn genetic diseases | Uncertain significance (Aug 17, 2022) | ||
19-17861306-A-G | Inborn genetic diseases | Uncertain significance (Mar 31, 2023) | ||
19-17861366-G-A | Inborn genetic diseases | Uncertain significance (Feb 27, 2023) | ||
19-17862987-C-T | Inborn genetic diseases | Uncertain significance (Aug 02, 2021) | ||
19-17863001-C-T | Inborn genetic diseases | Uncertain significance (May 08, 2023) | ||
19-17863002-G-A | Inborn genetic diseases | Uncertain significance (Jul 19, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
RPL18A | protein_coding | protein_coding | ENST00000222247 | 5 | 4278 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.982 | 0.0177 | 123432 | 0 | 1 | 123433 | 0.00000405 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.35 | 86 | 129 | 0.666 | 0.00000967 | 1132 |
Missense in Polyphen | 6 | 21.198 | 0.28304 | 272 | ||
Synonymous | -1.02 | 56 | 47.1 | 1.19 | 0.00000307 | 351 |
Loss of Function | 3.25 | 0 | 12.3 | 0.00 | 9.50e-7 | 108 |
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 | 0.0000484 | 0.0000484 |
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);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;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
- 0.129
Intolerance Scores
- loftool
- rvis_EVS
- -0.32
- rvis_percentile_EVS
- 31.46
Haploinsufficiency Scores
- pHI
- 0.645
- hipred
- Y
- hipred_score
- 0.783
- ghis
- 0.601
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- S
- 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
- Rpl18a
- 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;response to antineoplastic agent
- Cellular component
- cytosol;postsynaptic density;membrane;cytosolic large ribosomal subunit;polysomal ribosome
- Molecular function
- RNA binding;structural constituent of ribosome;protein binding