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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

ENSG00000166441NCBI:6157OMIM:603637HGNC:10329Uniprot:P46776AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

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
clinvar
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 Inborn genetic diseases Uncertain significance (Jun 24, 2022)2296730
11-8684861-G-T Inborn genetic diseases Uncertain significance (Jun 18, 2021)2233827
11-8695456-C-T Benign (Feb 28, 2019)1236934
11-8696458-T-G Inborn genetic diseases Uncertain significance (Jun 02, 2023)2555634
11-8696538-G-A Inborn genetic diseases Uncertain significance (May 23, 2023)2528615
11-8699279-G-A Likely benign (Jun 20, 2018)754395
11-8702644-A-G Likely benign (Mar 01, 2023)2641582
11-8702647-C-T Inborn genetic diseases Uncertain significance (May 17, 2023)2561218
11-8702689-C-G Inborn genetic diseases Uncertain significance (May 24, 2023)2551459
11-8707189-C-T Benign (Dec 31, 2019)769795
11-8707806-G-A Inborn genetic diseases Uncertain significance (Apr 17, 2023)2518745
11-8707850-C-T Inborn genetic diseases Uncertain significance (May 24, 2023)2551458
11-8708304-T-G Benign (May 01, 2022)2641583
11-8711224-C-T Inborn genetic diseases Uncertain significance (Mar 24, 2023)2513982
11-8711231-G-C Inborn genetic diseases Uncertain significance (Aug 15, 2023)2619065
11-8712552-T-C Inborn genetic diseases Uncertain significance (Mar 20, 2023)2543424
11-8712713-G-A Benign (Mar 02, 2018)708399
11-8714630-A-G Inborn genetic diseases Uncertain significance (Feb 09, 2023)2482535

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RPL27Aprotein_codingprotein_codingENST00000314138 532349
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.9110.088700000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.9296286.30.7190.00000470968
Missense in Polyphen010.4020144
Synonymous-0.6033631.71.140.00000167284
Loss of Function2.5807.780.004.13e-793

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;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

loftool
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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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