RPS26

ribosomal protein S26, the group of S ribosomal proteins

Basic information

Region (hg38): 12:56041350-56044697

Links

ENSG00000197728 ∙ NCBI:6231 ∙ OMIM:603701 ∙ HGNC:10414 ∙ Uniprot:P62854 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

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

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 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	17	1	20
missense		1	17			18
nonsense	4					4
start loss	3	1				4
frameshift	3	2				5
inframe indel						0
splice donor/acceptor (+/-2bp)	1	6				7
splice region	2		8	7		17
non coding			4	23	11	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)
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 (Mar 01, 2023)
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: gnomAD

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: 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

• 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_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

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