RPL18

ribosomal protein L18, the group of L ribosomal proteins

Basic information

Region (hg38): 19:48615327-48619184

Links

ENSG00000063177 ∙ NCBI:6141 ∙ OMIM:604179 ∙ HGNC:10310 ∙ Uniprot:Q07020 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• Diamond-Blackfan anemia 18 (Moderate), mode of inheritance: AD
• Diamond-Blackfan anemia (Supportive), mode of inheritance: AD
• Diamond-Blackfan anemia 18 (Limited), mode of inheritance: AD
• Diamond-Blackfan anemia 18 (Limited), mode of inheritance: Unknown

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Diamond-Blackfan anemia 18	AD	Hematologic; Oncologic	Specific treatment of anemia (eg, steroids, regular transfusions) can be effective; Surveillance for and early treatment of malignancy may be beneficial	Hematologic; Oncologic	28280134

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RPL18 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RPL18 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	13	2	16
missense			26	1		27
nonsense			2			2
start loss						0
frameshift					1	1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region			2	5	1	8
non coding				17	14	31
Total	0	0	29	31	17

Variants in RPL18

This is a list of pathogenic ClinVar variants found in the RPL18 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-48615375-G-A			Likely benign (Jan 02, 2024)
19-48615389-G-A			Uncertain significance (Jun 23, 2023)
19-48615398-G-A		not specified	Uncertain significance (Jan 31, 2024)
19-48615400-C-T			Uncertain significance (Apr 09, 2022)
19-48615413-G-A			Uncertain significance (Jun 04, 2023)
19-48615417-G-A			Likely benign (Sep 30, 2022)
19-48615423-C-T			Likely benign (Sep 12, 2022)
19-48615425-G-A			Uncertain significance (Aug 11, 2023)
19-48615440-C-T			Uncertain significance (Jun 16, 2023)
19-48615446-G-A			Uncertain significance (Dec 09, 2022)
19-48615450-G-A			Uncertain significance (Jan 06, 2024)
19-48615455-G-A			Likely benign (Feb 27, 2023)
19-48615459-G-C			Likely benign (May 16, 2022)
19-48615460-G-C			Likely benign (Dec 04, 2023)
19-48615461-AG-A			Benign (Dec 01, 2023)
19-48615463-G-A			Benign (Jan 05, 2024)
19-48615466-G-T			Likely benign (Jan 31, 2022)
19-48615864-G-A			Likely benign (Nov 15, 2023)
19-48615888-G-A			Likely benign (Oct 04, 2022)
19-48615890-G-A			Uncertain significance (Jul 31, 2023)
19-48615892-G-A		not specified	Uncertain significance (Jan 19, 2024)
19-48615896-T-C			Uncertain significance (Apr 03, 2023)
19-48615911-C-T		not specified	Uncertain significance (Jun 16, 2023)
19-48615919-C-T			Uncertain significance (Nov 13, 2023)
19-48615920-G-A		not specified	Uncertain significance (May 31, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RPL18	protein_coding	protein_coding	ENST00000549920	7	4209

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.966	0.0335	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.85	76	137	0.555	0.0000102	1196
Missense in Polyphen		5	20.487	0.24405		280
Synonymous	-1.72	63	47.8	1.32	0.00000273	404
Loss of Function	3.01	0	10.5	0.00	6.19e-7	117

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

• Function: FUNCTION: Component of the large ribosomal subunit. {ECO:0000269|PubMed:23636399, ECO:0000269|PubMed:25901680, ECO:0000269|PubMed:25957688, ECO:0000305|PubMed:12962325}.
• Pathway: Ribosome - Homo sapiens (human);Cytoplasmic Ribosomal Proteins;SRP-dependent cotranslational protein targeting to membrane;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);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: 0.203

Intolerance Scores

• rvis_EVS: -0.25
• rvis_percentile_EVS: 35.42

Haploinsufficiency Scores

• pHI: 0.869
• hipred: Y
• hipred_score: 0.840
• ghis: 0.668

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.973

Mouse Genome Informatics

• Gene name: Rpl18

Gene ontology

• Biological process: nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;cytoplasmic translation;translation;translational initiation;SRP-dependent cotranslational protein targeting to membrane
• Cellular component: nucleus;nucleolus;endoplasmic reticulum;rough endoplasmic reticulum;cytosol;focal adhesion;membrane;cytosolic large ribosomal subunit;polysomal ribosome
• Molecular function: RNA binding;structural constituent of ribosome