RPS9
ribosomal protein S9, the group of S ribosomal proteins
Basic information
Region (hg38): 19:54200808-54249003
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (35 variants)
- not specified (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the RPS9 gene is commonly pathogenic or not.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 1 | 1 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice variant | 0 | |||||
| non coding | 32 | 2 | 1 | 35 | ||
| Total | 0 | 0 | 33 | 2 | 1 |
Variants in RPS9
This is a list of pathogenic ClinVar variants found in the RPS9 region.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 19-54207459-A-G | Inborn genetic diseases | Uncertain significance (Aug 28, 2023) | ||
| 19-54207462-G-A | Inborn genetic diseases | Uncertain significance (Dec 16, 2022) | ||
| 19-54217175-C-G | Inborn genetic diseases | Uncertain significance (Apr 20, 2023) | ||
| 19-54217323-G-C | Inborn genetic diseases | Uncertain significance (Aug 04, 2023) | ||
| 19-54217324-T-C | Inborn genetic diseases | Uncertain significance (Aug 02, 2021) | ||
| 19-54218362-T-C | Inborn genetic diseases | Uncertain significance (Dec 05, 2022) | ||
| 19-54218365-C-G | Inborn genetic diseases | Uncertain significance (Dec 05, 2022) | ||
| 19-54218372-G-T | Inborn genetic diseases | Uncertain significance (Dec 05, 2022) | ||
| 19-54218663-C-T | Inborn genetic diseases | Likely benign (Apr 13, 2022) | ||
| 19-54218815-G-A | Inborn genetic diseases | Uncertain significance (May 26, 2022) | ||
| 19-54218829-T-G | Inborn genetic diseases | Uncertain significance (Sep 14, 2022) | ||
| 19-54219161-A-T | Inborn genetic diseases | Uncertain significance (Jun 05, 2023) | ||
| 19-54219209-G-A | Inborn genetic diseases | Uncertain significance (May 25, 2022) | ||
| 19-54220564-A-T | Inborn genetic diseases | Uncertain significance (Jun 24, 2022) | ||
| 19-54220578-T-A | Inborn genetic diseases | Uncertain significance (Oct 26, 2022) | ||
| 19-54220579-T-A | Inborn genetic diseases | Uncertain significance (Oct 26, 2022) | ||
| 19-54220579-T-C | Inborn genetic diseases | Uncertain significance (Jan 26, 2022) | ||
| 19-54220581-G-A | Inborn genetic diseases | Uncertain significance (Oct 26, 2022) | ||
| 19-54220583-G-T | Inborn genetic diseases | Uncertain significance (Oct 26, 2022) | ||
| 19-54220584-C-T | Inborn genetic diseases | Uncertain significance (Jan 26, 2022) | ||
| 19-54220605-T-A | Inborn genetic diseases | Uncertain significance (Jun 30, 2023) | ||
| 19-54220690-G-A | Likely benign (Apr 01, 2022) | |||
| 19-54220691-T-C | Likely benign (Apr 01, 2022) | |||
| 19-54220726-A-C | Inborn genetic diseases | Uncertain significance (Jul 09, 2021) | ||
| 19-54220744-G-G | Inborn genetic diseases | Uncertain significance (Jan 26, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| RPS9 | protein_coding | protein_coding | ENST00000302907 | 4 | 48253 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.880 | 0.119 | 0 | 0 | 0 | 0 | 0.00 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.73 | 46 | 136 | 0.339 | 0.00000874 | 1240 |
| Missense in Polyphen | 13 | 32.097 | 0.40502 | 290 | ||
| Synonymous | 0.245 | 52 | 54.3 | 0.958 | 0.00000318 | 418 |
| Loss of Function | 2.43 | 0 | 6.90 | 0.00 | 2.91e-7 | 85 |
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:
- Pathway
- Ribosome - Homo sapiens (human);Cytoplasmic Ribosomal Proteins;rRNA processing;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;rRNA modification in the nucleus and cytosol;rRNA processing in the nucleus and cytosol;Cap-dependent Translation Initiation
(Consensus)
Recessive Scores
- pRec
- 0.240
Intolerance Scores
- loftool
- rvis_EVS
- -0.12
- rvis_percentile_EVS
- 44.54
Haploinsufficiency Scores
- pHI
- 0.939
- hipred
- Y
- hipred_score
- 0.807
- ghis
- 0.501
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.984
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Low | Low |
| Primary Immunodeficiency | Medium | Low | Medium |
| Cancer | Medium | Low | Medium |
Mouse Genome Informatics
- Gene name
- Rps9
- 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;positive regulation of cell population proliferation;positive regulation of translational fidelity
- Cellular component
- nucleus;nucleoplasm;nucleolus;cytoplasm;cytosol;ribosome;focal adhesion;membrane;cytosolic small ribosomal subunit;synapse;extracellular exosome;ribonucleoprotein complex
- Molecular function
- RNA binding;structural constituent of ribosome;protein binding;rRNA binding;translation regulator activity;5.8S rRNA binding