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RPS26

ribosomal protein S26, the group of S ribosomal proteins

Basic information

Region (hg38): 12:56041350-56044697

Links

ENSG00000197728NCBI:6231OMIM:603701HGNC:10414Uniprot:P62854AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • 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: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Diamond-Blackfan anemia 10ADHematologic; OncologicSpecific 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 managementCraniofacial;Hematologic; Musculoskeletal; Oncologic16317735; 20116044; 20301769; 24942156

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RPS26 gene.

  • Diamond-Blackfan anemia 10 (93 variants)
  • not provided (19 variants)
  • Diamond-Blackfan anemia (15 variants)
  • not specified (10 variants)
  • Diamond-Blackfan anemia 15 with mandibulofacial dysostosis (2 variants)
  • RPS26-related condition (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
2
clinvar
17
clinvar
1
clinvar
20
missense
1
clinvar
17
clinvar
18
nonsense
4
clinvar
4
start loss
3
clinvar
1
clinvar
4
frameshift
3
clinvar
2
clinvar
5
inframe indel
0
splice donor/acceptor (+/-2bp)
1
clinvar
6
clinvar
7
splice region
2
8
7
17
non coding
4
clinvar
23
clinvar
11
clinvar
38
Total 11 10 23 40 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)1259753
12-56041958-T-G Diamond-Blackfan anemia 10 Benign (Jan 13, 2018)309850
12-56042018-G-T Diamond-Blackfan anemia 10 Uncertain significance (Jan 13, 2018)309851
12-56042037-T-G Diamond-Blackfan anemia 10 Uncertain significance (Jan 13, 2018)881904
12-56042066-C-T Uncertain significance (Sep 16, 2018)633659
12-56042087-C-T Diamond-Blackfan anemia 10 Uncertain significance (Jan 12, 2018)309852
12-56042132-G-A Diamond-Blackfan anemia 10 • not specified Benign/Likely benign (Jan 13, 2018)309853
12-56042134-C-T Diamond-Blackfan anemia 10 Likely benign (Jan 12, 2018)309854
12-56042136-C-G Diamond-Blackfan anemia 10 • not specified Benign (Jan 13, 2018)309855
12-56042136-C-T Diamond-Blackfan anemia 10 Likely benign (Jan 13, 2018)883077
12-56042140-C-T Diamond-Blackfan anemia 10 Likely benign (Jan 12, 2018)309856
12-56042142-C-T Diamond-Blackfan anemia 10 Benign (Jan 12, 2018)883078
12-56042145-C-G Diamond-Blackfan anemia 10 • not specified Benign (Dec 18, 2023)309857
12-56042158-G-A RPS26-related condition Likely benign (Oct 04, 2023)3032213
12-56042158-G-T Diamond-Blackfan anemia 10 Likely benign (Jan 13, 2018)883849
12-56042164-A-G Diamond-Blackfan anemia 10 • not specified • RPS26-related condition Benign/Likely benign (Mar 01, 2023)309858
12-56042166-G-C not specified Uncertain significance (Dec 08, 2020)1337787
12-56042167-A-C Bone marrow hypocellularity • See cases Pathogenic (Dec 21, 2022)598993
12-56042167-A-G Diamond-Blackfan anemia 10 • Diamond-Blackfan anemia Pathogenic (Jun 16, 2023)6122
12-56042167-A-T Diamond-Blackfan anemia 10 Pathogenic (Nov 01, 2020)6123
12-56042168-T-A Diamond-Blackfan anemia 10 Likely pathogenic (Apr 25, 2023)2690689
12-56042168-T-C Diamond-Blackfan anemia Pathogenic (Dec 01, 2015)1798678
12-56042168-T-G Diamond-Blackfan anemia 10 Pathogenic (Oct 05, 2019)933891
12-56042170-G-A Diamond-Blackfan anemia 10 Pathogenic (Feb 12, 2010)6126
12-56042170-G-T Diamond-Blackfan anemia • Diamond-Blackfan anemia 10 Pathogenic/Likely pathogenic (May 02, 2023)1798687

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RPS26protein_codingprotein_codingENST00000356464 42480
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.8480.14900000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.932570.70.3540.00000409739
Missense in Polyphen110.3740.096392163
Synonymous-1.893422.61.510.00000106234
Loss of Function2.3106.200.003.37e-767

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

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

AllRecessiveDominant
MendelianLowLowLow
Primary ImmunodeficiencyLowLowLow
CancerLowLowLow

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