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GeneBe

RPS17

ribosomal protein S17, the group of S ribosomal proteins

Basic information

Region (hg38): 15:82536749-82540459

Previous symbols: [ "RPS17L" ]

Links

ENSG00000182774NCBI:6218OMIM:180472HGNC:10397Uniprot:P08708AlphaFoldGenCCjaxSfariGnomADPubmed

Phenotypes

GenCC

Source: genCC

  • Diamond-Blackfan anemia 4 (Strong), mode of inheritance: AD
  • Diamond-Blackfan anemia (Supportive), mode of inheritance: AD
  • Diamond-Blackfan anemia 4 (Strong), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Diamond-Blackfan anemia 4ADHematologic; 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 managementCraniofacial; Hematologic; Musculoskeletal; Oncologic16317735; 17647292; 19061985; 20301769; 23718193; 23812780

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RPS17 gene.

  • Diamond-Blackfan anemia (8 variants)
  • Diamond-Blackfan anemia 4 (6 variants)
  • not provided (5 variants)
  • not specified (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RPS17 gene is commonly pathogenic or not.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous 5 5
missense 1 1
nonsense 3 3
start loss 0
frameshift 1 1 2
inframe indel 1 1
splice variant 1 1 2
non coding 1 1
Total 5 1 1 6 2

Variants in RPS17

This is a list of pathogenic ClinVar variants found in the RPS17 region.

Position Type Phenotype Significance ClinVar
15-82536819-C-T Diamond-Blackfan anemia Likely benign (Oct 09, 2018)link
15-82536888-C-T Diamond-Blackfan anemia 4 Likely benign (Aug 04, 2021)link
15-82538226-C-T not specified Benign (May 04, 2022)link
15-82538321-T-C Diamond-Blackfan anemia • Diamond-Blackfan anemia 4 Likely benign (Oct 18, 2021)link
15-82538938-CCT-C Diamond-Blackfan anemia 4 Pathogenic (Dec 01, 2008)link
15-82538982-A-C Diamond-Blackfan anemia 4 Pathogenic (Aug 01, 2013)link
15-82538982-A-G not specified • Diamond-Blackfan anemia Conflicting interpretations of pathogenicity (Feb 16, 2017)link
15-82538986-C-T Diamond-Blackfan anemia 4 Likely pathogenic (Dec 16, 2022)link
15-82539981-CCTG-C Uncertain significance (Dec 16, 2020)link
15-82540010-G-A Diamond-Blackfan anemia Likely benign (Oct 19, 2021)link
15-82540075-AG-A Diamond-Blackfan anemia Pathogenic (Dec 22, 2015)link
15-82540091-G-A Diamond-Blackfan anemia Likely benign (Nov 18, 2015)link
15-82540122-C-A Uncertain significance (Dec 21, 2022)link
15-82540294-G-C Benign (Sep 15, 2019)link
15-82540427-A-C Diamond-Blackfan anemia 4 • Diamond-Blackfan anemia Pathogenic (Oct 14, 2015)link
15-82540428-T-C Diamond-Blackfan anemia Pathogenic (Mar 25, 2015)link
15-82540460-G-A not specified Benign (May 04, 2022)link

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Disease
DISEASE: Diamond-Blackfan anemia 4 (DBA4) [MIM:612527]: 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 developing leukemia. 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:17647292, ECO:0000269|PubMed:19061985}. 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)

Recessive Scores

pRec
0.216

Haploinsufficiency Scores

pHI
0.853
hipred
hipred_score
ghis
0.409

Essentials

essential_gene_CRISPR
E
essential_gene_CRISPR2
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.801

Mouse Genome Informatics

Gene name
Rps17
Phenotype

Gene ontology

Biological process
nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;rRNA processing;translation;translational initiation;SRP-dependent cotranslational protein targeting to membrane;erythrocyte homeostasis;ribosomal small subunit biogenesis
Cellular component
nucleoplasm;cytosol;ribosome;focal adhesion;membrane;cytosolic small ribosomal subunit
Molecular function
RNA binding;structural constituent of ribosome