RPL12
ribosomal protein L12, the group of L ribosomal proteins|Small nucleolar RNA protein coding host genes
Basic information
Region (hg38): 9:127447673-127451406
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 RPL12 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 RPL12
This is a list of pathogenic ClinVar variants found in the RPL12 region.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
9-127447884-C-T | Inborn genetic diseases | Uncertain significance (Dec 14, 2022) | ||
9-127447933-G-A | Inborn genetic diseases | Uncertain significance (Nov 18, 2022) | ||
9-127447973-G-C | Inborn genetic diseases | Uncertain significance (Aug 08, 2023) | ||
9-127448381-A-G | Inborn genetic diseases | Uncertain significance (Mar 17, 2023) | ||
9-127451284-C-G | Inborn genetic diseases | Uncertain significance (Apr 07, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
RPL12 | protein_coding | protein_coding | ENST00000361436 | 7 | 3732 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.0531 | 0.929 | 125731 | 0 | 15 | 125746 | 0.0000596 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.25 | 56 | 89.3 | 0.627 | 0.00000446 | 1063 |
Missense in Polyphen | 5 | 10.759 | 0.46471 | 165 | ||
Synonymous | -1.06 | 40 | 32.3 | 1.24 | 0.00000154 | 321 |
Loss of Function | 2.06 | 4 | 11.5 | 0.347 | 7.41e-7 | 117 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000904 | 0.0000904 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.0000547 | 0.0000544 |
Finnish | 0.0000949 | 0.0000924 |
European (Non-Finnish) | 0.0000621 | 0.0000615 |
Middle Eastern | 0.0000547 | 0.0000544 |
South Asian | 0.0000980 | 0.0000980 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Binds directly to 26S ribosomal RNA. {ECO:0000250}.;
- 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)
Intolerance Scores
- loftool
- rvis_EVS
- 0.1
- rvis_percentile_EVS
- 61.28
Haploinsufficiency Scores
- pHI
- hipred
- Y
- hipred_score
- 0.641
- ghis
- 0.507
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.996
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Rpl12
- Phenotype
Zebrafish Information Network
- Gene name
- rpl12
- Affected structure
- anatomical system
- Phenotype tag
- abnormal
- Phenotype quality
- quality
Gene ontology
- Biological process
- ribosomal large subunit assembly;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;translation;translational initiation;SRP-dependent cotranslational protein targeting to membrane
- Cellular component
- nucleolus;cytosol;focal adhesion;postsynaptic density;large ribosomal subunit;membrane;cytosolic large ribosomal subunit;extracellular exosome
- Molecular function
- RNA binding;structural constituent of ribosome;protein binding;rRNA binding;large ribosomal subunit rRNA binding