RPS17
ribosomal protein S17, the group of S ribosomal proteins
Basic information
Region (hg38): 15:82536749-82540459
Previous symbols: [ "RPS17L" ]
Links
Phenotypes
GenCC
Source:
- 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:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Diamond-Blackfan anemia 4 | 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; 17647292; 19061985; 20301769; 23718193; 23812780 |
ClinVar
This is a list of variants' phenotypes submitted to
- 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) | ||
| 15-82536888-C-T | Diamond-Blackfan anemia 4 | Likely benign (Aug 04, 2021) | ||
| 15-82538226-C-T | not specified | Benign (May 04, 2022) | ||
| 15-82538321-T-C | Diamond-Blackfan anemia • Diamond-Blackfan anemia 4 | Likely benign (Oct 18, 2021) | ||
| 15-82538938-CCT-C | Diamond-Blackfan anemia 4 | Pathogenic (Dec 01, 2008) | ||
| 15-82538982-A-C | Diamond-Blackfan anemia 4 | Pathogenic (Aug 01, 2013) | ||
| 15-82538982-A-G | not specified • Diamond-Blackfan anemia | Conflicting interpretations of pathogenicity (Feb 16, 2017) | ||
| 15-82538986-C-T | Diamond-Blackfan anemia 4 | Likely pathogenic (Dec 16, 2022) | ||
| 15-82539981-CCTG-C | Uncertain significance (Dec 16, 2020) | |||
| 15-82540010-G-A | Diamond-Blackfan anemia | Likely benign (Oct 19, 2021) | ||
| 15-82540075-AG-A | Diamond-Blackfan anemia | Pathogenic (Dec 22, 2015) | ||
| 15-82540091-G-A | Diamond-Blackfan anemia | Likely benign (Nov 18, 2015) | ||
| 15-82540122-C-A | Uncertain significance (Dec 21, 2022) | |||
| 15-82540294-G-C | Benign (Sep 15, 2019) | |||
| 15-82540427-A-C | Diamond-Blackfan anemia 4 • Diamond-Blackfan anemia | Pathogenic (Oct 14, 2015) | ||
| 15-82540428-T-C | Diamond-Blackfan anemia | Pathogenic (Mar 25, 2015) | ||
| 15-82540460-G-A | not specified | Benign (May 04, 2022) |
GnomAD
Source:
dbNSFP
Source:
- 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