RPL26
ribosomal protein L26, the group of L ribosomal proteins
Basic information
Region (hg38): 17:8377515-8383213
Links
Phenotypes
GenCC
Source:
- Diamond-Blackfan anemia 11 (Limited), mode of inheritance: AD
- Diamond-Blackfan anemia 11 (Strong), mode of inheritance: AD
- Diamond-Blackfan anemia 11 (Limited), mode of inheritance: AD
- Diamond-Blackfan anemia (Supportive), mode of inheritance: AD
- Diamond-Blackfan anemia 11 (Limited), mode of inheritance: AD
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Diamond-Blackfan anemia 11 | AD | Cardiovascular; Hematologic; Oncologic | Individuals may manifest with severe, transfusion dependent anemia, as well as profound neutropenia, and medical treatment (eg, with corticosteroids) has been reported as beneficial; Surveillance for and early treatment of malignancy may allow early detection and management; Awareness of the hearing loss may allow early interventions related to speech and language development; Individuals with DBA may manifest a variety of congenital malformations (eg, cardiac anomalies), and awareness may allow prompt detection and management | Audiologic/Otolaryngologic; Cardiovascular; Craniofacial; Hematologic; Musculoskeletal; Oncologic; Renal | 16317735; 17186470; 18535205; 19061985; 20116044; 20301769; 22431104 |
ClinVar
This is a list of variants' phenotypes submitted to
- Diamond-Blackfan anemia (45 variants)
- not provided (11 variants)
- Diamond-Blackfan anemia 11 (8 variants)
- not specified (3 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the RPL26 gene is commonly pathogenic or not.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 9 | 10 | |||
| missense | 19 | 5 | 24 | |||
| nonsense | 2 | 2 | 4 | |||
| start loss | 0 | |||||
| frameshift | 1 | 1 | ||||
| inframe indel | 1 | 1 | ||||
| splice variant | 2 | 2 | ||||
| non coding | 9 | 7 | 16 | |||
| Total | 1 | 0 | 22 | 27 | 8 |
Variants in RPL26
This is a list of pathogenic ClinVar variants found in the RPL26 region.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 17-8377566-A-C | Diamond-Blackfan anemia | Uncertain significance (Sep 17, 2022) | ||
| 17-8377618-T-A | Diamond-Blackfan anemia | Likely benign (Jul 18, 2022) | ||
| 17-8377620-C-T | Diamond-Blackfan anemia | Uncertain significance (Jun 13, 2022) | ||
| 17-8377625-C-G | Diamond-Blackfan anemia | Uncertain significance (Sep 17, 2022) | ||
| 17-8377625-C-T | Diamond-Blackfan anemia • not specified • Diamond-Blackfan anemia 11 | Uncertain significance (Apr 29, 2022) | ||
| 17-8377631-T-G | Diamond-Blackfan anemia | Uncertain significance (Oct 02, 2022) | ||
| 17-8377633-G-A | Diamond-Blackfan anemia | Likely benign (Apr 30, 2022) | ||
| 17-8377641-G-A | Diamond-Blackfan anemia | Uncertain significance (Aug 31, 2021) | ||
| 17-8377643-T-C | Diamond-Blackfan anemia | Uncertain significance (Aug 31, 2021) | ||
| 17-8377645-G-C | Diamond-Blackfan anemia | Likely benign (Jun 14, 2022) | ||
| 17-8377650-T-A | Diamond-Blackfan anemia | Uncertain significance (Aug 30, 2022) | ||
| 17-8377653-T-G | Diamond-Blackfan anemia | Uncertain significance (Mar 23, 2022) | ||
| 17-8377660-G-A | Diamond-Blackfan anemia 11 • Diamond-Blackfan anemia | Likely benign (Sep 29, 2022) | ||
| 17-8377660-GT-G | Diamond-Blackfan anemia 11 | not provided (-) | ||
| 17-8377675-T-C | Diamond-Blackfan anemia • Diamond-Blackfan anemia 11 | Benign/Likely benign (Oct 26, 2022) | ||
| 17-8377689-C-T | Diamond-Blackfan anemia | Uncertain significance (May 04, 2022) | ||
| 17-8377707-G-GA | Diamond-Blackfan anemia | Benign (Oct 11, 2022) | ||
| 17-8377741-A-C | Benign (Oct 21, 2018) | |||
| 17-8379778-A-G | Diamond-Blackfan anemia | Likely benign (Sep 07, 2022) | ||
| 17-8379783-C-A | Diamond-Blackfan anemia | Likely benign (Sep 24, 2022) | ||
| 17-8379805-G-A | Diamond-Blackfan anemia | Likely benign (Sep 03, 2022) | ||
| 17-8379817-G-A | Diamond-Blackfan anemia | Likely benign (Jun 09, 2023) | ||
| 17-8379819-G-A | Diamond-Blackfan anemia | Uncertain significance (May 21, 2022) | ||
| 17-8379829-G-T | Diamond-Blackfan anemia | Likely benign (Oct 04, 2022) | ||
| 17-8379846-G-A | Diamond-Blackfan anemia | Uncertain significance (Oct 21, 2022) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| RPL26 | protein_coding | protein_coding | ENST00000584164 | 3 | 5694 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.916 | 0.0832 | 124643 | 0 | 1 | 124644 | 0.00000401 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.64 | 46 | 89.7 | 0.513 | 0.00000547 | 951 |
| Missense in Polyphen | 7 | 15.953 | 0.43879 | 182 | ||
| Synonymous | -0.213 | 31 | 29.5 | 1.05 | 0.00000156 | 272 |
| Loss of Function | 2.62 | 0 | 7.97 | 0.00 | 6.04e-7 | 71 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000620 | 0.0000620 |
| 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:
- Function
- FUNCTION: Component of the large ribosomal subunit. {ECO:0000305|PubMed:26100019}.;
- Disease
- DISEASE: Diamond-Blackfan anemia 11 (DBA11) [MIM:614900]: A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. {ECO:0000269|PubMed:22431104}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
- 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
- 0.187
Intolerance Scores
- loftool
- rvis_EVS
- -0.01
- rvis_percentile_EVS
- 52.85
Haploinsufficiency Scores
- pHI
- hipred
- Y
- hipred_score
- 0.784
- ghis
- 0.657
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.890
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Rpl26
- Phenotype
Gene ontology
- Biological process
- nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;cytoplasmic translation;rRNA processing;translation;translational initiation;SRP-dependent cotranslational protein targeting to membrane;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;cellular response to UV;ribosomal large subunit biogenesis;positive regulation of translation;cellular response to gamma radiation;positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator;positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;regulation of translation involved in cellular response to UV
- Cellular component
- nucleoplasm;nucleolus;cytoplasm;cytosol;membrane;cytosolic large ribosomal subunit;cytosolic ribosome;extracellular exosome;ribonucleoprotein complex
- Molecular function
- RNA binding;structural constituent of ribosome;protein binding;mRNA 5'-UTR binding