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GeneBe

RPS27

ribosomal protein S27, the group of S ribosomal proteins

Basic information

Region (hg38): 1:153990761-153992155

Links

ENSG00000177954NCBI:6232OMIM:603702HGNC:10416Uniprot:P42677AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

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

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Diamond-Blackfan anemia 17ADHematologic; 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 managementDermatologic; Hematologic; Oncologic25424902

ClinVar

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

  • not provided (13 variants)
  • RPS27-related condition (2 variants)
  • not specified (1 variants)
  • Diamond-Blackfan anemia 17 (1 variants)

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
2
clinvar
1
clinvar
1
clinvar
4
missense
4
clinvar
4
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
2
2
non coding
3
clinvar
3
clinvar
6
Total 0 0 9 1 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 condition Likely benign (Jan 19, 2024)3058828
1-153990817-C-T Uncertain significance (Apr 29, 2023)1973866
1-153991100-T-C Uncertain significance (Nov 10, 2022)2870884
1-153991106-C-T Likely benign (Dec 11, 2023)2179120
1-153991107-C-T RPS27-related condition Benign (Jan 12, 2024)727666
1-153991137-C-T Uncertain significance (Dec 19, 2023)2057360
1-153991147-A-C RPS27-related condition Uncertain significance (Jan 31, 2023)2634491
1-153991171-G-A Likely benign (Dec 15, 2023)2896812
1-153991174-A-G Likely benign (Dec 18, 2023)745884
1-153991177-C-T Likely benign (Nov 16, 2023)2776912
1-153991193-A-G RPS27-related condition Uncertain significance (Sep 28, 2023)2635631
1-153991196-TC-T Diamond-Blackfan anemia 17 Pathogenic (Mar 28, 2017)417765
1-153991198-C-G Uncertain significance (Sep 01, 2022)2118242
1-153991332-C-T Benign (May 15, 2021)1286485
1-153991519-A-AAG Diamond-Blackfan anemia 17 Benign (Nov 07, 2021)1327974
1-153991548-T-C Uncertain significance (May 24, 2023)2797065
1-153991550-T-C Uncertain significance (Sep 07, 2022)1974756
1-153991551-C-T Likely benign (Jan 15, 2024)2876089
1-153991585-G-C Uncertain significance (Apr 17, 2023)2173030
1-153991591-T-C Benign (Dec 21, 2022)739311
1-153991595-C-T Uncertain significance (Sep 15, 2023)2756626
1-153991636-C-T Uncertain significance (May 23, 2023)2875088
1-153991664-A-G Uncertain significance (Jul 12, 2023)2867415
1-153991689-C-T Likely benign (Oct 19, 2023)2806776
1-153991920-C-CAA Benign (Jun 04, 2021)1237561

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RPS27protein_codingprotein_codingENST00000368567 41392
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.7570.23500000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.9292643.20.6020.00000199544
Missense in Polyphen24.36630.4580670
Synonymous-2.032515.01.677.61e-7146
Loss of Function2.0004.680.001.96e-763

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

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

loftool
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_CRISPR
essential_gene_CRISPR2
E
essential_gene_gene_trap
E
gene_indispensability_pred
E
gene_indispensability_score
0.890

Gene Damage Prediction

AllRecessiveDominant
MendelianLowLowLow
Primary ImmunodeficiencyLowLowLow
CancerLowLowLow

Mouse Genome Informatics

Gene name
Rps27
Phenotype

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