RPS26
Basic information
Region (hg38): 12:56041350-56044697
Links
Phenotypes
GenCC
Source:
- Diamond-Blackfan anemia 10 (Definitive), mode of inheritance: AD
- Diamond-Blackfan anemia 10 (Strong), mode of inheritance: AD
- Diamond-Blackfan anemia (Supportive), mode of inheritance: AD
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Diamond-Blackfan anemia 10 | AD | Hematologic; Oncologic | Specific treatment of anemia (eg, steroids, regular transfusions) can be effective; surveillance for and early treatment of malignancy may be beneficial; Individuals with DBA may manifest a variety of congenital malformations, and awareness may allow prompt detection and management | Craniofacial;Hematologic; Musculoskeletal; Oncologic | 16317735; 20116044; 20301769; 24942156 |
ClinVar
This is a list of variants' phenotypes submitted to
- Diamond-Blackfan anemia 10 (9 variants)
- Diamond-Blackfan anemia (6 variants)
- not provided (3 variants)
- Diamond-Blackfan anemia 15 with mandibulofacial dysostosis (2 variants)
- Bone marrow hypocellularity (1 variants)
- See cases (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the RPS26 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 22 | 25 | ||||
missense | 20 | 21 | ||||
nonsense | 4 | |||||
start loss | 4 | |||||
frameshift | 6 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 7 | |||||
splice region | 2 | 9 | 8 | 19 | ||
non coding | 28 | 11 | 43 | |||
Total | 12 | 10 | 26 | 50 | 12 |
Variants in RPS26
This is a list of pathogenic ClinVar variants found in the RPS26 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
12-56041628-G-A | Benign (Jun 29, 2018) | |||
12-56041958-T-G | Diamond-Blackfan anemia 10 | Benign (Jan 13, 2018) | ||
12-56042018-G-T | Diamond-Blackfan anemia 10 | Uncertain significance (Jan 13, 2018) | ||
12-56042037-T-G | Diamond-Blackfan anemia 10 | Uncertain significance (Jan 13, 2018) | ||
12-56042066-C-T | Uncertain significance (Sep 16, 2018) | |||
12-56042087-C-T | Diamond-Blackfan anemia 10 | Uncertain significance (Jan 12, 2018) | ||
12-56042132-G-A | Diamond-Blackfan anemia 10 • not specified | Benign/Likely benign (Jan 13, 2018) | ||
12-56042134-C-T | Diamond-Blackfan anemia 10 | Likely benign (Jan 12, 2018) | ||
12-56042136-C-G | Diamond-Blackfan anemia 10 • not specified | Benign (Jan 13, 2018) | ||
12-56042136-C-T | Diamond-Blackfan anemia 10 | Likely benign (Jan 13, 2018) | ||
12-56042140-C-T | Diamond-Blackfan anemia 10 | Likely benign (Jan 12, 2018) | ||
12-56042142-C-T | Diamond-Blackfan anemia 10 | Benign (Jan 12, 2018) | ||
12-56042145-C-G | Diamond-Blackfan anemia 10 • not specified | Benign (Dec 18, 2023) | ||
12-56042158-G-A | RPS26-related disorder | Likely benign (Oct 04, 2023) | ||
12-56042158-G-T | Diamond-Blackfan anemia 10 | Likely benign (Jan 13, 2018) | ||
12-56042164-A-G | Diamond-Blackfan anemia 10 • not specified • RPS26-related disorder | Benign/Likely benign (Jun 01, 2024) | ||
12-56042166-G-C | not specified | Uncertain significance (Dec 08, 2020) | ||
12-56042167-A-C | Bone marrow hypocellularity • See cases | Pathogenic (Dec 21, 2022) | ||
12-56042167-A-G | Diamond-Blackfan anemia 10 • Diamond-Blackfan anemia | Pathogenic (Jun 16, 2023) | ||
12-56042167-A-T | Diamond-Blackfan anemia 10 | Pathogenic (Nov 01, 2020) | ||
12-56042168-T-A | Diamond-Blackfan anemia 10 | Likely pathogenic (Apr 25, 2023) | ||
12-56042168-T-C | Diamond-Blackfan anemia | Pathogenic (Dec 01, 2015) | ||
12-56042168-T-G | Diamond-Blackfan anemia 10 | Pathogenic (Oct 05, 2019) | ||
12-56042170-G-A | Diamond-Blackfan anemia 10 | Pathogenic (Feb 12, 2010) | ||
12-56042170-G-T | Diamond-Blackfan anemia • Diamond-Blackfan anemia 10 | Pathogenic/Likely pathogenic (May 02, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
RPS26 | protein_coding | protein_coding | ENST00000356464 | 4 | 2480 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.848 | 0.149 | 0 | 0 | 0 | 0 | 0.00 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.93 | 25 | 70.7 | 0.354 | 0.00000409 | 739 |
Missense in Polyphen | 1 | 10.374 | 0.096392 | 163 | ||
Synonymous | -1.89 | 34 | 22.6 | 1.51 | 0.00000106 | 234 |
Loss of Function | 2.31 | 0 | 6.20 | 0.00 | 3.37e-7 | 67 |
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:
- Disease
- DISEASE: Diamond-Blackfan anemia 10 (DBA10) [MIM:613309]: 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:20116044, ECO:0000269|PubMed:24942156}. 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;Formation of the ternary complex, and subsequently, the 43S complex;Translation initiation complex formation;Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S;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);Ribosomal scanning and start codon recognition;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
- -0.08
- rvis_percentile_EVS
- 47.79
Haploinsufficiency Scores
- pHI
- 0.125
- hipred
- Y
- hipred_score
- 0.756
- ghis
- 0.539
Essentials
- essential_gene_CRISPR
- essential_gene_CRISPR2
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.970
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Low | Low | Low |
Primary Immunodeficiency | Low | Low | Low |
Cancer | Low | Low | Low |
Mouse Genome Informatics
- Gene name
- Rps26
- 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;negative regulation of RNA splicing
- Cellular component
- nucleoplasm;cytosol;small ribosomal subunit;membrane;cytosolic small ribosomal subunit;polysomal ribosome;extracellular exosome;cytoplasmic side of rough endoplasmic reticulum membrane
- Molecular function
- RNA binding;mRNA binding;structural constituent of ribosome;protein binding;cadherin binding