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GeneBe

RPL26

ribosomal protein L26, the group of L ribosomal proteins

Basic information

Region (hg38): 17:8377515-8383213

Links

ENSG00000161970NCBI:6154OMIM:603704HGNC:10327Uniprot:P61254AlphaFoldGenCCjaxSfariGnomADPubmed

Phenotypes

GenCC

Source: genCC

  • 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: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Diamond-Blackfan anemia 11ADCardiovascular; Hematologic; OncologicIndividuals 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 managementAudiologic/Otolaryngologic; Cardiovascular; Craniofacial; Hematologic; Musculoskeletal; Oncologic; Renal16317735; 17186470; 18535205; 19061985; 20116044; 20301769; 22431104

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RPL26 gene.

  • 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)link
17-8377618-T-A Diamond-Blackfan anemia Likely benign (Jul 18, 2022)link
17-8377620-C-T Diamond-Blackfan anemia Uncertain significance (Jun 13, 2022)link
17-8377625-C-G Diamond-Blackfan anemia Uncertain significance (Sep 17, 2022)link
17-8377625-C-T Diamond-Blackfan anemia • not specified • Diamond-Blackfan anemia 11 Uncertain significance (Apr 29, 2022)link
17-8377631-T-G Diamond-Blackfan anemia Uncertain significance (Oct 02, 2022)link
17-8377633-G-A Diamond-Blackfan anemia Likely benign (Apr 30, 2022)link
17-8377641-G-A Diamond-Blackfan anemia Uncertain significance (Aug 31, 2021)link
17-8377643-T-C Diamond-Blackfan anemia Uncertain significance (Aug 31, 2021)link
17-8377645-G-C Diamond-Blackfan anemia Likely benign (Jun 14, 2022)link
17-8377650-T-A Diamond-Blackfan anemia Uncertain significance (Aug 30, 2022)link
17-8377653-T-G Diamond-Blackfan anemia Uncertain significance (Mar 23, 2022)link
17-8377660-G-A Diamond-Blackfan anemia 11 • Diamond-Blackfan anemia Likely benign (Sep 29, 2022)link
17-8377660-GT-G Diamond-Blackfan anemia 11 not provided (-)link
17-8377675-T-C Diamond-Blackfan anemia • Diamond-Blackfan anemia 11 Benign/Likely benign (Oct 26, 2022)link
17-8377689-C-T Diamond-Blackfan anemia Uncertain significance (May 04, 2022)link
17-8377707-G-GA Diamond-Blackfan anemia Benign (Oct 11, 2022)link
17-8377741-A-C Benign (Oct 21, 2018)link
17-8379778-A-G Diamond-Blackfan anemia Likely benign (Sep 07, 2022)link
17-8379783-C-A Diamond-Blackfan anemia Likely benign (Sep 24, 2022)link
17-8379805-G-A Diamond-Blackfan anemia Likely benign (Sep 03, 2022)link
17-8379817-G-A Diamond-Blackfan anemia Likely benign (Jun 09, 2023)link
17-8379819-G-A Diamond-Blackfan anemia Uncertain significance (May 21, 2022)link
17-8379829-G-T Diamond-Blackfan anemia Likely benign (Oct 04, 2022)link
17-8379846-G-A Diamond-Blackfan anemia Uncertain significance (Oct 21, 2022)link

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RPL26protein_codingprotein_codingENST00000584164 35694
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.9160.0832124643011246440.00000401
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.644689.70.5130.00000547951
Missense in Polyphen715.9530.43879182
Synonymous-0.2133129.51.050.00000156272
Loss of Function2.6207.970.006.04e-771

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00006200.0000620
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

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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