RPL35
Basic information
Region (hg38): 9:124857880-124861981
Links
Phenotypes
GenCC
Source:
- Diamond-Blackfan anemia 19 (Limited), mode of inheritance: AD
- Diamond-Blackfan anemia (Supportive), mode of inheritance: AD
- Diamond-Blackfan anemia 19 (Limited), mode of inheritance: Unknown
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Diamond-Blackfan anemia 19 | AD | Hematologic; Oncologic | Specific treatment of anemia (eg, steroids, regular transfusions) can be effective; Surveillance for and early treatment of malignancy may be beneficial | Hematologic; Oncologic | 28280134 |
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the RPL35 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 | 16 | 17 | ||||
missense | 20 | 22 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 3 | 1 | 4 | |||
non coding | 11 | 13 | ||||
Total | 0 | 0 | 20 | 29 | 3 |
Variants in RPL35
This is a list of pathogenic ClinVar variants found in the RPL35 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
9-124857909-A-C | RPL35-related disorder | Likely benign (Nov 26, 2019) | ||
9-124857928-A-C | Uncertain significance (Apr 06, 2023) | |||
9-124857930-C-A | Likely benign (Aug 04, 2023) | |||
9-124857930-C-T | Likely benign (Oct 18, 2022) | |||
9-124857931-G-A | Uncertain significance (Jul 23, 2022) | |||
9-124857932-C-A | not specified | Uncertain significance (Jan 24, 2023) | ||
9-124857933-G-A | RPL35-related disorder | Benign (Jan 18, 2024) | ||
9-124857940-C-T | not specified | Uncertain significance (May 02, 2024) | ||
9-124857941-G-T | Likely benign (Aug 01, 2022) | |||
9-124857945-C-T | Benign (Jan 30, 2024) | |||
9-124857946-G-A | not specified | Uncertain significance (Jan 26, 2024) | ||
9-124857955-C-T | Uncertain significance (Nov 15, 2022) | |||
9-124857964-C-A | Uncertain significance (Oct 14, 2023) | |||
9-124857964-C-T | Uncertain significance (Jan 03, 2023) | |||
9-124857974-T-G | Uncertain significance (Dec 12, 2023) | |||
9-124857989-T-G | RPL35-related disorder | Likely benign (Jan 07, 2024) | ||
9-124857996-G-A | Likely benign (Aug 05, 2022) | |||
9-124857996-G-C | Uncertain significance (Aug 17, 2023) | |||
9-124857996-G-T | RPL35-related disorder | Uncertain significance (Feb 14, 2024) | ||
9-124858009-C-T | RPL35-related disorder | Likely benign (Jan 12, 2023) | ||
9-124858010-G-A | not specified | Uncertain significance (Dec 11, 2023) | ||
9-124858013-G-A | Uncertain significance (Dec 30, 2023) | |||
9-124858014-G-A | Likely benign (Dec 12, 2023) | |||
9-124858023-A-G | Likely benign (Sep 27, 2023) | |||
9-124858026-T-C | Likely benign (Nov 16, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
RPL35 | protein_coding | protein_coding | ENST00000348462 | 4 | 4102 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.549 | 0.439 | 124666 | 0 | 1 | 124667 | 0.00000401 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.22 | 51 | 82.2 | 0.620 | 0.00000573 | 775 |
Missense in Polyphen | 3 | 9.517 | 0.31523 | 127 | ||
Synonymous | -2.24 | 49 | 32.7 | 1.50 | 0.00000178 | 258 |
Loss of Function | 2.01 | 1 | 6.56 | 0.152 | 3.64e-7 | 76 |
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) | 0.00000887 | 0.00000887 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Component of the large ribosomal subunit. {ECO:0000305|PubMed:12962325}.;
- 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
- 0.13
- rvis_percentile_EVS
- 62.74
Haploinsufficiency Scores
- pHI
- 0.925
- hipred
- Y
- hipred_score
- 0.750
- ghis
- 0.492
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.948
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Rpl35
- Phenotype
Zebrafish Information Network
- Gene name
- rpl35
- Affected structure
- nucleate erythrocyte
- Phenotype tag
- abnormal
- Phenotype quality
- decreased amount
Gene ontology
- Biological process
- nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);translation;translational initiation;SRP-dependent cotranslational protein targeting to membrane
- Cellular component
- nucleolus;cytosol;membrane;cytosolic large ribosomal subunit
- Molecular function
- RNA binding;mRNA binding;structural constituent of ribosome