Menu
GeneBe

RPL26

ribosomal protein L26, the group of L ribosomal proteins

Basic information

Region (hg38): 17:8377515-8383213

Links

ENSG00000161970NCBI:6154OMIM:603704HGNC:10327Uniprot:P61254AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • Diamond-Blackfan anemia 11 (Strong), 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 (52 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.

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
1
clinvar
18
clinvar
19
missense
22
clinvar
1
clinvar
23
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
1
1
2
non coding
12
clinvar
8
clinvar
20
Total 0 0 23 31 8

Variants in RPL26

This is a list of pathogenic ClinVar variants found in the RPL26 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
17-8377566-A-C Diamond-Blackfan anemia Uncertain significance (Sep 17, 2022)2088276
17-8377576-C-T Diamond-Blackfan anemia Likely benign (Dec 19, 2022)2766280
17-8377586-G-A Diamond-Blackfan anemia Uncertain significance (Mar 14, 2023)2974888
17-8377594-C-T Diamond-Blackfan anemia Likely benign (Mar 14, 2023)2711429
17-8377614-T-C Diamond-Blackfan anemia Uncertain significance (Apr 15, 2023)2730413
17-8377618-T-A Diamond-Blackfan anemia Likely benign (Feb 17, 2023)1110457
17-8377620-C-T Diamond-Blackfan anemia Uncertain significance (Jun 13, 2022)2162397
17-8377625-C-G Diamond-Blackfan anemia Uncertain significance (Sep 17, 2022)2186789
17-8377625-C-T Diamond-Blackfan anemia • not specified • Diamond-Blackfan anemia 11 Uncertain significance (Sep 27, 2023)945300
17-8377631-T-G Diamond-Blackfan anemia Uncertain significance (Oct 02, 2022)1910622
17-8377633-G-A Diamond-Blackfan anemia Likely benign (Dec 11, 2023)2198020
17-8377641-G-A Diamond-Blackfan anemia Uncertain significance (Feb 18, 2021)1358979
17-8377643-T-C Diamond-Blackfan anemia Uncertain significance (May 08, 2023)1024358
17-8377645-G-C Diamond-Blackfan anemia Likely benign (Jun 14, 2022)2148845
17-8377650-T-A Diamond-Blackfan anemia Uncertain significance (Aug 30, 2022)1945167
17-8377653-T-G Diamond-Blackfan anemia Uncertain significance (Mar 23, 2022)2194855
17-8377660-G-A Diamond-Blackfan anemia 11 • Diamond-Blackfan anemia Likely benign (Aug 06, 2023)704376
17-8377660-GT-G Diamond-Blackfan anemia 11 not provided (-)1339822
17-8377670-A-G Diamond-Blackfan anemia Uncertain significance (Sep 01, 2023)2987313
17-8377675-T-C Diamond-Blackfan anemia • Diamond-Blackfan anemia 11 Benign/Likely benign (Jan 26, 2023)1164657
17-8377689-C-T Diamond-Blackfan anemia Uncertain significance (May 04, 2022)2080746
17-8377707-G-GA Diamond-Blackfan anemia Benign (Oct 11, 2022)2157610
17-8377741-A-C Benign (Oct 21, 2018)1277419
17-8379778-A-G Diamond-Blackfan anemia Likely benign (Aug 19, 2023)2178600
17-8379782-TC-AG Diamond-Blackfan anemia Uncertain significance (Feb 26, 2023)2841018

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