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GeneBe

RPS9

ribosomal protein S9, the group of S ribosomal proteins

Basic information

Region (hg38): 19:54200808-54249003

Links

ENSG00000170889NCBI:6203OMIM:603631HGNC:10442Uniprot:P46781AlphaFoldGenCCjaxSfariGnomADPubmed

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 (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)link
19-54207462-G-A Inborn genetic diseases Uncertain significance (Dec 16, 2022)link
19-54217175-C-G Inborn genetic diseases Uncertain significance (Apr 20, 2023)link
19-54217323-G-C Inborn genetic diseases Uncertain significance (Aug 04, 2023)link
19-54217324-T-C Inborn genetic diseases Uncertain significance (Aug 02, 2021)link
19-54218362-T-C Inborn genetic diseases Uncertain significance (Dec 05, 2022)link
19-54218365-C-G Inborn genetic diseases Uncertain significance (Dec 05, 2022)link
19-54218372-G-T Inborn genetic diseases Uncertain significance (Dec 05, 2022)link
19-54218663-C-T Inborn genetic diseases Likely benign (Apr 13, 2022)link
19-54218815-G-A Inborn genetic diseases Uncertain significance (May 26, 2022)link
19-54218829-T-G Inborn genetic diseases Uncertain significance (Sep 14, 2022)link
19-54219161-A-T Inborn genetic diseases Uncertain significance (Jun 05, 2023)link
19-54219209-G-A Inborn genetic diseases Uncertain significance (May 25, 2022)link
19-54220564-A-T Inborn genetic diseases Uncertain significance (Jun 24, 2022)link
19-54220578-T-A Inborn genetic diseases Uncertain significance (Oct 26, 2022)link
19-54220579-T-A Inborn genetic diseases Uncertain significance (Oct 26, 2022)link
19-54220579-T-C Inborn genetic diseases Uncertain significance (Jan 26, 2022)link
19-54220581-G-A Inborn genetic diseases Uncertain significance (Oct 26, 2022)link
19-54220583-G-T Inborn genetic diseases Uncertain significance (Oct 26, 2022)link
19-54220584-C-T Inborn genetic diseases Uncertain significance (Jan 26, 2022)link
19-54220605-T-A Inborn genetic diseases Uncertain significance (Jun 30, 2023)link
19-54220690-G-A Likely benign (Apr 01, 2022)link
19-54220691-T-C Likely benign (Apr 01, 2022)link
19-54220726-A-C Inborn genetic diseases Uncertain significance (Jul 09, 2021)link
19-54220744-G-G Inborn genetic diseases Uncertain significance (Jan 26, 2023)link

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