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GeneBe

RPL12

ribosomal protein L12, the group of L ribosomal proteins|Small nucleolar RNA protein coding host genes

Basic information

Region (hg38): 9:127447673-127451406

Links

ENSG00000197958NCBI:6136OMIM:180475HGNC:10302Uniprot:P30050AlphaFoldGenCCjaxSfariGnomADPubmed

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RPL12 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 RPL12 gene is commonly pathogenic or not.

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 variant 0
non coding 0
Total 0 0 2 0 0

Variants in RPL12

This is a list of pathogenic ClinVar variants found in the RPL12 region.

Position Type Phenotype Significance ClinVar
9-127447884-C-T Inborn genetic diseases Uncertain significance (Dec 14, 2022)link
9-127447933-G-A Inborn genetic diseases Uncertain significance (Nov 18, 2022)link
9-127447973-G-C Inborn genetic diseases Uncertain significance (Aug 08, 2023)link
9-127448381-A-G Inborn genetic diseases Uncertain significance (Mar 17, 2023)link
9-127451284-C-G Inborn genetic diseases Uncertain significance (Apr 07, 2023)link

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RPL12protein_codingprotein_codingENST00000361436 73732
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.05310.9291257310151257460.0000596
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.255689.30.6270.000004461063
Missense in Polyphen510.7590.46471165
Synonymous-1.064032.31.240.00000154321
Loss of Function2.06411.50.3477.41e-7117

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00009040.0000904
Ashkenazi Jewish0.000.00
East Asian0.00005470.0000544
Finnish0.00009490.0000924
European (Non-Finnish)0.00006210.0000615
Middle Eastern0.00005470.0000544
South Asian0.00009800.0000980
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Binds directly to 26S ribosomal RNA. {ECO:0000250}.;
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)

Intolerance Scores

loftool
rvis_EVS
0.1
rvis_percentile_EVS
61.28

Haploinsufficiency Scores

pHI
hipred
Y
hipred_score
0.641
ghis
0.507

Essentials

essential_gene_CRISPR
E
essential_gene_CRISPR2
E
essential_gene_gene_trap
E
gene_indispensability_pred
E
gene_indispensability_score
0.996

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Rpl12
Phenotype

Zebrafish Information Network

Gene name
rpl12
Affected structure
anatomical system
Phenotype tag
abnormal
Phenotype quality
quality

Gene ontology

Biological process
ribosomal large subunit assembly;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;translation;translational initiation;SRP-dependent cotranslational protein targeting to membrane
Cellular component
nucleolus;cytosol;focal adhesion;postsynaptic density;large ribosomal subunit;membrane;cytosolic large ribosomal subunit;extracellular exosome
Molecular function
RNA binding;structural constituent of ribosome;protein binding;rRNA binding;large ribosomal subunit rRNA binding