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GeneBe

RPL19

ribosomal protein L19, the group of L ribosomal proteins

Basic information

Region (hg38): 17:39200282-39204840

Links

ENSG00000108298NCBI:6143OMIM:180466HGNC:10312Uniprot:P84098AlphaFoldGenCCjaxSfariGnomADPubmed

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RPL19 gene.

  • not provided (69 variants)
  • Diamond-Blackfan anemia (11 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RPL19 gene is commonly pathogenic or not.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous 21 1 22
missense 19 1 2 22
nonsense 2 2
start loss 0
frameshift 1 1
inframe indel 1 1
splice variant 4 7 11
non coding 12 2 14
Total 0 0 25 43 5

Variants in RPL19

This is a list of pathogenic ClinVar variants found in the RPL19 region.

Position Type Phenotype Significance ClinVar
17-39200346-T-G Uncertain significance (Aug 24, 2021)link
17-39200347-G-C Uncertain significance (Jun 20, 2022)link
17-39200355-G-A Uncertain significance (Apr 01, 2022)link
17-39200356-G-A Likely benign (Jul 18, 2022)link
17-39200357-C-T Uncertain significance (Mar 26, 2022)link
17-39200361-C-G Likely benign (Aug 21, 2022)link
17-39200365-TCTC-T Likely benign (Aug 31, 2022)link
17-39200366-C-G Likely benign (Jun 14, 2022)link
17-39200366-C-T Likely benign (Jun 20, 2022)link
17-39200367-T-A Likely benign (Jul 15, 2022)link
17-39200368-C-T Likely benign (Nov 02, 2022)link
17-39200369-C-G Likely benign (Aug 31, 2022)link
17-39201190-AATC-A Likely benign (Oct 21, 2022)link
17-39201196-G-C Likely benign (Sep 25, 2021)link
17-39201205-G-GT Likely benign (Oct 05, 2022)link
17-39201234-G-A Likely benign (Aug 30, 2022)link
17-39201238-G-T Uncertain significance (Oct 04, 2022)link
17-39201240-C-T Likely benign (Sep 23, 2022)link
17-39201242-C-G Uncertain significance (Oct 21, 2022)link
17-39201245-G-T Uncertain significance (Sep 01, 2021)link
17-39201246-T-C Likely benign (Oct 20, 2022)link
17-39201253-C-T Uncertain significance (Mar 13, 2022)link
17-39201253-CG-AT Uncertain significance (Sep 01, 2021)link
17-39201268-A-G Uncertain significance (Aug 03, 2022)link
17-39201297-T-C Likely benign (Jul 13, 2021)link

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RPL19protein_codingprotein_codingENST00000225430 64445
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.9820.018000000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense2.39581370.4250.000009671279
Missense in Polyphen716.0750.43545256
Synonymous-0.6074742.01.120.00000211364
Loss of Function3.24012.20.008.40e-7125

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
0.221

Intolerance Scores

loftool
rvis_EVS
0.01
rvis_percentile_EVS
54.63

Haploinsufficiency Scores

pHI
0.254
hipred
Y
hipred_score
0.783
ghis
0.645

Essentials

essential_gene_CRISPR
E
essential_gene_CRISPR2
E
essential_gene_gene_trap
E
gene_indispensability_pred
E
gene_indispensability_score
0.824

Gene Damage Prediction

AllRecessiveDominant
MendelianLowLowLow
Primary ImmunodeficiencyLowLowLow
CancerLowLowLow

Mouse Genome Informatics

Gene name
Rpl19
Phenotype

Zebrafish Information Network

Gene name
rpl19
Affected structure
trunk
Phenotype tag
abnormal
Phenotype quality
atrophied

Gene ontology

Biological process
nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;cytoplasmic translation;translation;translational initiation;SRP-dependent cotranslational protein targeting to membrane;liver regeneration
Cellular component
cytosol;focal adhesion;membrane;cytosolic large ribosomal subunit;polysomal ribosome;synapse
Molecular function
RNA binding;structural constituent of ribosome;protein binding;large ribosomal subunit rRNA binding;5.8S rRNA binding