RPS27

ribosomal protein S27, the group of S ribosomal proteins

Basic information

Region (hg38): 1:153990761-153992155

Links

ENSG00000177954 ∙ NCBI:6232 ∙ OMIM:603702 ∙ HGNC:10416 ∙ Uniprot:P42677 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• Diamond-Blackfan anemia 17 (Limited), mode of inheritance: AD
• Diamond-Blackfan anemia 17 (Limited), mode of inheritance: Unknown

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Diamond-Blackfan anemia 17	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	Dermatologic; Hematologic; Oncologic	25424902

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RPS27 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RPS27 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			3	3	1	7
missense			7			7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				2	1	3
non coding			5	4	3	12
Total	0	0	15	7	4

Variants in RPS27

This is a list of pathogenic ClinVar variants found in the RPS27 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-153990790-C-G		RPS27-related disorder	Likely benign (Jan 19, 2024)
1-153990817-C-T			Uncertain significance (Apr 29, 2023)
1-153991100-T-C			Uncertain significance (Nov 10, 2022)
1-153991106-C-T			Likely benign (Dec 11, 2023)
1-153991107-C-T		RPS27-related disorder	Benign (Jan 12, 2024)
1-153991137-C-T		not specified	Uncertain significance (Dec 19, 2023)
1-153991142-C-T		not specified	Uncertain significance (Jan 22, 2024)
1-153991147-A-C		RPS27-related disorder	Uncertain significance (Jan 31, 2023)
1-153991171-G-A			Likely benign (Dec 15, 2023)
1-153991174-A-G			Likely benign (Dec 18, 2023)
1-153991177-C-T			Likely benign (Nov 16, 2023)
1-153991193-A-G		RPS27-related disorder	Uncertain significance (Sep 28, 2023)
1-153991194-A-G		not specified	Uncertain significance (Dec 21, 2023)
1-153991196-TC-T		Diamond-Blackfan anemia 17	Pathogenic (Mar 28, 2017)
1-153991198-C-G			Uncertain significance (Sep 01, 2022)
1-153991332-C-T			Benign (May 15, 2021)
1-153991519-A-AAG		Diamond-Blackfan anemia 17	Benign (Nov 07, 2021)
1-153991548-T-C			Uncertain significance (May 24, 2023)
1-153991550-T-C			Uncertain significance (Sep 07, 2022)
1-153991551-C-T			Likely benign (Jan 15, 2024)
1-153991585-G-C			Uncertain significance (Apr 17, 2023)
1-153991591-T-C			Benign (Dec 21, 2022)
1-153991595-C-T			Uncertain significance (Sep 15, 2023)
1-153991636-C-T			Uncertain significance (May 23, 2023)
1-153991664-A-G			Uncertain significance (Jul 12, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RPS27	protein_coding	protein_coding	ENST00000368567	4	1392

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.757	0.235	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.929	26	43.2	0.602	0.00000199	544
Missense in Polyphen		2	4.3663	0.45806		70
Synonymous	-2.03	25	15.0	1.67	7.61e-7	146
Loss of Function	2.00	0	4.68	0.00	1.96e-7	63

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

• Function: FUNCTION: Component of the small ribosomal subunit (PubMed:8706699). Required for proper rRNA processing and maturation of 18S rRNAs (PubMed:25424902). {ECO:0000269|PubMed:25424902, ECO:0000305|PubMed:8706699}.
• Pathway: Ribosome - Homo sapiens (human);Cytoplasmic Ribosomal Proteins;Signal Transduction;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;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;Amplification of signal from the kinetochores;Mitotic Spindle Checkpoint;Cell Cycle Checkpoints;Metabolism;RHO GTPases Activate Formins;Nonsense-Mediated Decay (NMD);Selenoamino acid metabolism;RHO GTPase Effectors;Signaling by Rho GTPases;EGFR1;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);Mitotic Prometaphase;Direct p53 effectors;Separation of Sister Chromatids;Mitotic Anaphase;Mitotic Metaphase and Anaphase;Ribosomal scanning and start codon recognition;M Phase;L13a-mediated translational silencing of Ceruloplasmin expression;Cell Cycle;Peptide chain elongation;Eukaryotic Translation Elongation;Resolution of Sister Chromatid Cohesion;GTP hydrolysis and joining of the 60S ribosomal subunit;Cell Cycle, Mitotic;Cap-dependent Translation Initiation (Consensus)

Recessive Scores

• pRec: 0.206

Intolerance Scores

• rvis_EVS: 0.06
• rvis_percentile_EVS: 58

Haploinsufficiency Scores

• pHI: 0.227
• hipred: Y
• hipred_score: 0.828
• ghis: 0.640

Essentials

• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.890

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Low	Low	Low
Primary Immunodeficiency	Low	Low	Low
Cancer	Low	Low	Low

Mouse Genome Informatics

• Gene name: Rps27

Zebrafish Information Network

• Gene name: rps27.1
• Affected structure: nucleate erythrocyte
• Phenotype tag: abnormal
• Phenotype quality: decreased amount

Gene ontology

• Biological process: ribosomal small subunit assembly;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;rRNA processing;translation;translational initiation;SRP-dependent cotranslational protein targeting to membrane;cell population proliferation
• Cellular component: nucleus;nucleoplasm;cytosol;ribosome;postsynaptic density;cytosolic small ribosomal subunit;presynapse;glutamatergic synapse;GABA-ergic synapse
• Molecular function: DNA binding;RNA binding;structural constituent of ribosome;protein binding;zinc ion binding