RPL19
ribosomal protein L19, the group of L ribosomal proteins
Basic information
Region (hg38): 17:39200282-39204840
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- 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) | |||
17-39200347-G-C | Uncertain significance (Jun 20, 2022) | |||
17-39200355-G-A | Uncertain significance (Apr 01, 2022) | |||
17-39200356-G-A | Likely benign (Jul 18, 2022) | |||
17-39200357-C-T | Uncertain significance (Mar 26, 2022) | |||
17-39200361-C-G | Likely benign (Aug 21, 2022) | |||
17-39200365-TCTC-T | Likely benign (Aug 31, 2022) | |||
17-39200366-C-G | Likely benign (Jun 14, 2022) | |||
17-39200366-C-T | Likely benign (Jun 20, 2022) | |||
17-39200367-T-A | Likely benign (Jul 15, 2022) | |||
17-39200368-C-T | Likely benign (Nov 02, 2022) | |||
17-39200369-C-G | Likely benign (Aug 31, 2022) | |||
17-39201190-AATC-A | Likely benign (Oct 21, 2022) | |||
17-39201196-G-C | Likely benign (Sep 25, 2021) | |||
17-39201205-G-GT | Likely benign (Oct 05, 2022) | |||
17-39201234-G-A | Likely benign (Aug 30, 2022) | |||
17-39201238-G-T | Uncertain significance (Oct 04, 2022) | |||
17-39201240-C-T | Likely benign (Sep 23, 2022) | |||
17-39201242-C-G | Uncertain significance (Oct 21, 2022) | |||
17-39201245-G-T | Uncertain significance (Sep 01, 2021) | |||
17-39201246-T-C | Likely benign (Oct 20, 2022) | |||
17-39201253-C-T | Uncertain significance (Mar 13, 2022) | |||
17-39201253-CG-AT | Uncertain significance (Sep 01, 2021) | |||
17-39201268-A-G | Uncertain significance (Aug 03, 2022) | |||
17-39201297-T-C | Likely benign (Jul 13, 2021) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
RPL19 | protein_coding | protein_coding | ENST00000225430 | 6 | 4445 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.982 | 0.0180 | 0 | 0 | 0 | 0 | 0.00 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 2.39 | 58 | 137 | 0.425 | 0.00000967 | 1279 |
Missense in Polyphen | 7 | 16.075 | 0.43545 | 256 | ||
Synonymous | -0.607 | 47 | 42.0 | 1.12 | 0.00000211 | 364 |
Loss of Function | 3.24 | 0 | 12.2 | 0.00 | 8.40e-7 | 125 |
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:
- 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
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Low | Low | Low |
Primary Immunodeficiency | Low | Low | Low |
Cancer | Low | Low | Low |
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