MRPL23
mitochondrial ribosomal protein L23, the group of Large subunit mitochondrial ribosomal proteins|Mitochondrial ribosomal proteins
Basic information
Region (hg38): 11:1947277-1984522
Previous symbols: [ "RPL23L" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (9 variants)
- not provided (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRPL23 gene is commonly pathogenic or not.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 0 | |||||
missense | 9 | 9 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice variant | 1 | 1 | ||||
non coding | 0 | |||||
Total | 0 | 0 | 9 | 0 | 1 |
Variants in MRPL23
This is a list of pathogenic ClinVar variants found in the MRPL23 region.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
11-1950912-C-T | Inborn genetic diseases | Uncertain significance (Mar 31, 2023) | ||
11-1950951-T-G | Inborn genetic diseases | Uncertain significance (Nov 23, 2021) | ||
11-1950990-G-A | Inborn genetic diseases | Uncertain significance (Aug 02, 2022) | ||
11-1952119-G-A | Benign (Apr 12, 2018) | |||
11-1952182-G-A | Inborn genetic diseases | Uncertain significance (Aug 02, 2021) | ||
11-1952192-G-A | Inborn genetic diseases | Uncertain significance (Jul 26, 2021) | ||
11-1952197-C-T | Inborn genetic diseases | Uncertain significance (Oct 27, 2022) | ||
11-1952201-T-A | Inborn genetic diseases | Uncertain significance (Feb 03, 2022) | ||
11-1952827-C-T | Inborn genetic diseases | Uncertain significance (May 26, 2023) | ||
11-1956383-C-T | Inborn genetic diseases | Uncertain significance (Nov 29, 2021) | ||
11-1956386-G-A | Inborn genetic diseases | Uncertain significance (Jun 16, 2023) | ||
11-1956388-C-T | Inborn genetic diseases | Uncertain significance (Oct 05, 2022) | ||
11-1956389-G-A | Inborn genetic diseases | Uncertain significance (Sep 15, 2021) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
MRPL23 | protein_coding | protein_coding | ENST00000397298 | 5 | 37245 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
1.63e-8 | 0.0352 | 125730 | 0 | 16 | 125746 | 0.0000636 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.379 | 117 | 106 | 1.10 | 0.00000743 | 987 |
Missense in Polyphen | 47 | 41.162 | 1.1418 | 377 | ||
Synonymous | -0.531 | 54 | 49.3 | 1.10 | 0.00000402 | 298 |
Loss of Function | -1.21 | 10 | 6.64 | 1.51 | 3.69e-7 | 68 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000152 | 0.000152 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000220 | 0.000217 |
Finnish | 0.0000463 | 0.0000462 |
European (Non-Finnish) | 0.0000533 | 0.0000527 |
Middle Eastern | 0.000220 | 0.000217 |
South Asian | 0.0000653 | 0.0000653 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Pathway
- Ribosome - Homo sapiens (human);Mitochondrial translation initiation;Translation;Metabolism of proteins;Mitochondrial translation elongation;Mitochondrial translation termination;Mitochondrial translation
(Consensus)
Intolerance Scores
- loftool
- 0.771
- rvis_EVS
- 1.11
- rvis_percentile_EVS
- 91.99
Haploinsufficiency Scores
- pHI
- 0.117
- hipred
- N
- hipred_score
- 0.329
- ghis
- 0.397
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.775
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Mrpl23
- Phenotype
Gene ontology
- Biological process
- translation;mitochondrial translation;mitochondrial translational elongation;mitochondrial translational termination
- Cellular component
- fibrillar center;mitochondrion;mitochondrial inner membrane;mitochondrial large ribosomal subunit
- Molecular function
- RNA binding;structural constituent of ribosome;protein binding