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RPS9

ribosomal protein S9, the group of S ribosomal proteins

Basic information

Region (hg38): 19:54200808-54249003

Links

ENSG00000170889NCBI:6203OMIM:603631HGNC:10442Uniprot:P46781AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RPS9 gene.

  • Inborn genetic diseases (2 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.

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
0
missense
2
clinvar
2
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 2 0 0

Variants in RPS9

This is a list of pathogenic ClinVar variants found in the RPS9 region.

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

Position Type Phenotype Significance ClinVar
19-54201535-C-T not specified Uncertain significance (Feb 27, 2024)3156291
19-54206364-G-A RPS9-related condition Benign (Jun 28, 2019)3042820
19-54206381-G-A not specified Uncertain significance (Feb 28, 2024)3156292
19-54207459-A-G not specified Uncertain significance (Aug 28, 2023)2621725
19-54207461-C-T RPS9-related condition Benign (Nov 12, 2019)3056073
19-54207462-G-A not specified Uncertain significance (Dec 16, 2022)2336233
19-54217101-T-C not specified Uncertain significance (Dec 12, 2023)3118803
19-54217143-C-T not specified Uncertain significance (Sep 29, 2023)3118802
19-54217175-C-G not specified Uncertain significance (Apr 20, 2023)2510098
19-54217323-G-C not specified Uncertain significance (Aug 04, 2023)2615878
19-54217324-T-C not specified Uncertain significance (Aug 02, 2021)2354898
19-54218362-T-C not specified Uncertain significance (Dec 05, 2022)2211188
19-54218365-C-G not specified Uncertain significance (Dec 05, 2022)2211187
19-54218372-G-T not specified Uncertain significance (Dec 05, 2022)2211186
19-54218382-G-C not specified Likely benign (Feb 21, 2024)3118801
19-54218663-C-T not specified Likely benign (Apr 13, 2022)2284071
19-54218669-C-G not specified Uncertain significance (Dec 08, 2023)3118800
19-54218815-G-A not specified Uncertain significance (May 26, 2022)2363634
19-54218829-T-G not specified Uncertain significance (Sep 14, 2022)2312061
19-54219161-A-T not specified Uncertain significance (Jun 05, 2023)2519162
19-54219198-C-T not specified Likely benign (Feb 06, 2024)3118799
19-54219209-G-A not specified Uncertain significance (May 25, 2022)2347456
19-54220564-A-T not specified Uncertain significance (Jun 24, 2022)2354300
19-54220578-T-A not specified Uncertain significance (Oct 26, 2022)2351755
19-54220579-T-A not specified Uncertain significance (Oct 26, 2022)2351754

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RPS9protein_codingprotein_codingENST00000302907 448253
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.8800.11900000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense2.73461360.3390.000008741240
Missense in Polyphen1332.0970.40502290
Synonymous0.2455254.30.9580.00000318418
Loss of Function2.4306.900.002.91e-785

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

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

AllRecessiveDominant
MendelianMediumLowLow
Primary ImmunodeficiencyMediumLowMedium
CancerMediumLowMedium

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