RPL27A

ribosomal protein L27a, the group of L ribosomal proteins|Small nucleolar RNA protein coding host genes

Basic information

Region (hg38): 11:8682787-8714759

Links

ENSG00000166441 ∙ NCBI:6157 ∙ OMIM:603637 ∙ HGNC:10329 ∙ Uniprot:P46776 ∙ 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 RPL27A 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 RPL27A 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			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 RPL27A

This is a list of pathogenic ClinVar variants found in the RPL27A region.

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

Position	Type	Phenotype	Significance	ClinVar
11-8684834-G-A		not specified	Uncertain significance (Jun 24, 2022)
11-8684852-A-G		not specified	Uncertain significance (Jan 02, 2024)
11-8684861-G-T		not specified	Uncertain significance (Jun 18, 2021)
11-8695456-C-T			Benign (Feb 28, 2019)
11-8696435-C-T		not specified	Uncertain significance (Dec 18, 2023)
11-8696458-T-G		not specified	Uncertain significance (Jun 02, 2023)
11-8696538-G-A		not specified	Uncertain significance (May 23, 2023)
11-8696549-C-T		not specified	Uncertain significance (Sep 09, 2021)
11-8696643-C-T		not specified	Uncertain significance (Feb 22, 2024)
11-8697528-C-T		not specified	Uncertain significance (Sep 15, 2021)
11-8697564-C-T		not specified	Uncertain significance (Oct 12, 2021)
11-8697620-G-A		not specified	Uncertain significance (Nov 20, 2023)
11-8699217-T-G		not specified	Uncertain significance (Nov 09, 2021)
11-8699279-G-A			Likely benign (Jun 20, 2018)
11-8699369-G-C		not specified	Uncertain significance (Dec 20, 2023)
11-8702644-A-G			Likely benign (Mar 01, 2023)
11-8702645-C-T		not specified	Uncertain significance (Dec 14, 2021)
11-8702647-C-T		not specified	Uncertain significance (May 17, 2023)
11-8702689-C-G		not specified	Uncertain significance (May 24, 2023)
11-8707189-C-T			Benign (Dec 31, 2019)
11-8707207-G-A		not specified	Uncertain significance (Feb 13, 2024)
11-8707806-G-A		not specified	Uncertain significance (Apr 17, 2023)
11-8707838-G-A		not specified	Uncertain significance (Jun 29, 2022)
11-8707850-C-T		not specified	Uncertain significance (May 24, 2023)
11-8708304-T-G			Benign (May 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RPL27A	protein_coding	protein_coding	ENST00000314138	5	32349

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.911	0.0887	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.929	62	86.3	0.719	0.00000470	968
Missense in Polyphen		0	10.402	0		144
Synonymous	-0.603	36	31.7	1.14	0.00000167	284
Loss of Function	2.58	0	7.78	0.00	4.13e-7	93

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;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: 0.169

Intolerance Scores

• rvis_EVS: 0.08
• rvis_percentile_EVS: 59.43

Haploinsufficiency Scores

• pHI: 0.967
• hipred: Y
• hipred_score: 0.802
• ghis: 0.641

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.870

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rpl27a
• Phenotype: immune system phenotype; hearing/vestibular/ear phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); limbs/digits/tail 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); normal phenotype; pigmentation phenotype; neoplasm; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); homeostasis/metabolism phenotype; cellular phenotype; craniofacial phenotype; growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); endocrine/exocrine gland phenotype

Gene ontology

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