RPS15

ribosomal protein S15, the group of S ribosomal proteins

Basic information

Region (hg38): 19:1438358-1440495

Links

ENSG00000115268 ∙ NCBI:6209 ∙ OMIM:180535 ∙ HGNC:10388 ∙ Uniprot:P62841 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RPS15 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RPS15 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				1	2	3
missense			4		1	5
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	4	1	3

Variants in RPS15

This is a list of pathogenic ClinVar variants found in the RPS15 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-1438866-C-T		not specified	Benign (May 04, 2021)
19-1440051-A-C		not specified	Uncertain significance (Jul 30, 2024)
19-1440069-G-C		not specified • RPS15-related disorder	Benign (May 04, 2021)
19-1440080-C-G		not specified	Uncertain significance (Jan 16, 2024)
19-1440087-A-C		not specified	Uncertain significance (Jan 18, 2023)
19-1440091-C-T		RPS15-related disorder	Likely benign (Sep 27, 2023)
19-1440172-G-A		RPS15-related disorder	Likely benign (Sep 27, 2023)
19-1440208-G-A		not specified	Uncertain significance (Nov 09, 2024)
19-1440375-C-T			Benign (Jul 04, 2018)
19-1440384-C-T			Likely benign (Jul 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RPS15	protein_coding	protein_coding	ENST00000586686	4	2226

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.833	0.164	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.78	46	94.8	0.485	0.00000707	916
Missense in Polyphen		3	10.411	0.28814		149
Synonymous	-3.10	66	40.8	1.62	0.00000289	283
Loss of Function	2.25	0	5.89	0.00	2.54e-7	74

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: dbNSFP

• 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: 0.185

Intolerance Scores

• rvis_EVS: 0.01
• rvis_percentile_EVS: 54.63

Haploinsufficiency Scores

• pHI: 0.161
• hipred: N
• hipred_score: 0.483
• ghis: 0.623

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.824

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Low	Low	Low
Primary Immunodeficiency	Low	Low	Low
Cancer	Low	Low	Low

Mouse Genome Informatics

• Gene name: Rps15

Zebrafish Information Network

• Gene name: rps15
• Affected structure: post-vent region
• Phenotype tag: abnormal
• Phenotype quality: morphology

Gene ontology

• Biological process: ribosomal small subunit assembly;ribosomal small subunit export from nucleus;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;osteoblast differentiation;rRNA processing;translation;translational initiation;SRP-dependent cotranslational protein targeting to membrane;ribosomal small subunit biogenesis
• Cellular component: nucleus;nucleoplasm;cytosol;focal adhesion;membrane;cytosolic small ribosomal subunit
• Molecular function: DNA binding;RNA binding;structural constituent of ribosome;protein binding