RPS27L

ribosomal protein S27 like, the group of S ribosomal proteins

Basic information

Region (hg38): 15:63125872-63158021

Links

ENSG00000185088 ∙ NCBI:51065 ∙ OMIM:612055 ∙ HGNC:18476 ∙ Uniprot:Q71UM5 ∙ 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 RPS27L gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RPS27L 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			1			1
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	1	0	0

Variants in RPS27L

This is a list of pathogenic ClinVar variants found in the RPS27L region.

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

Position	Type	Phenotype	Significance	ClinVar
15-63126874-A-T		not specified	Uncertain significance (Nov 22, 2022)
15-63126905-G-C		not specified	Uncertain significance (Jan 10, 2022)
15-63126954-C-T		not specified	Uncertain significance (Oct 16, 2023)
15-63126963-T-G		not specified	Uncertain significance (Nov 01, 2021)
15-63127003-A-C		not specified	Uncertain significance (Feb 15, 2023)
15-63127033-A-T		not specified	Uncertain significance (Jul 09, 2024)
15-63127346-C-A			Benign (Apr 04, 2018)
15-63127419-A-G		not specified	Uncertain significance (Mar 28, 2023)
15-63127543-A-C		not specified	Uncertain significance (Mar 11, 2024)
15-63127547-G-C		not specified	Likely benign (Apr 08, 2024)
15-63127564-G-A		not specified	Uncertain significance (Jul 14, 2021)
15-63127641-A-G		not specified	Uncertain significance (Dec 06, 2023)
15-63127641-A-T		not specified	Uncertain significance (Mar 11, 2022)
15-63127658-A-T		not specified	Uncertain significance (May 04, 2022)
15-63127684-A-G		not specified	Uncertain significance (Apr 24, 2024)
15-63129544-G-A		not specified	Uncertain significance (Nov 14, 2023)
15-63129587-A-T		not specified	Uncertain significance (Jan 31, 2024)
15-63141306-G-A		not specified	Uncertain significance (Dec 14, 2023)
15-63141399-C-T		not specified	Uncertain significance (Jul 20, 2021)
15-63141420-T-C		not specified	Uncertain significance (Feb 21, 2024)
15-63141504-C-T		not specified	Uncertain significance (May 30, 2023)
15-63141525-A-G		not specified	Uncertain significance (Jun 25, 2024)
15-63141576-C-T		not specified	Uncertain significance (Sep 14, 2022)
15-63141588-G-A		not specified	Uncertain significance (Mar 12, 2024)
15-63141599-C-T		not specified	Uncertain significance (Dec 13, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RPS27L	protein_coding	protein_coding	ENST00000330964	4	32150

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.100	0.783	124788	0	6	124794	0.0000240

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.791	27	41.3	0.654	0.00000193	534
Missense in Polyphen		3	8.0304	0.37358		109
Synonymous	0.978	9	13.6	0.662	6.37e-7	144
Loss of Function	1.21	2	4.87	0.411	2.03e-7	70

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000590	0.0000590
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000185	0.0000177
Middle Eastern	0.00	0.00
South Asian	0.0000692	0.0000654
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Pathway: Ribosome - Homo sapiens (human);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;EGFR1;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);Direct p53 effectors;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: 0.0862

Intolerance Scores

• rvis_EVS: 0.1
• rvis_percentile_EVS: 60.96

Haploinsufficiency Scores

• pHI: 0.352
• hipred: Y
• hipred_score: 0.769
• ghis: 0.569

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 2.22e-16

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Rps27l
• Phenotype: growth/size/body region phenotype; endocrine/exocrine gland phenotype; cellular phenotype; hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); neoplasm; liver/biliary system phenotype; immune system phenotype

Gene ontology

• Biological process: ribosomal small subunit assembly;translation;activation of cysteine-type endopeptidase activity involved in apoptotic process;DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator;mitotic G1 DNA damage checkpoint;intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;positive regulation of translation
• Cellular component: nucleus;cytosolic small ribosomal subunit
• Molecular function: RNA binding;structural constituent of ribosome;protein binding;translation activator activity;cysteine-type endopeptidase activator activity involved in apoptotic process;metal ion binding