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RPL35

ribosomal protein L35, the group of L ribosomal proteins

Basic information

Region (hg38): 9:124857879-124861981

Links

ENSG00000136942NCBI:11224OMIM:618315HGNC:10344Uniprot:P42766AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • 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: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Diamond-Blackfan anemia 19ADHematologic; OncologicSpecific treatment of anemia (eg, steroids, regular transfusions) can be effective; Surveillance for and early treatment of malignancy may be beneficialHematologic; Oncologic28280134

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RPL35 gene.

  • not provided (30 variants)
  • Inborn genetic diseases (4 variants)

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
9
clinvar
2
clinvar
11
missense
10
clinvar
1
clinvar
11
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
2
2
non coding
4
clinvar
3
clinvar
7
Total 0 0 10 14 5

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 condition Likely benign (Nov 26, 2019)3048601
9-124857928-A-C Uncertain significance (Apr 06, 2023)2847890
9-124857930-C-A Likely benign (Aug 04, 2023)2873441
9-124857930-C-T Likely benign (Oct 18, 2022)2068782
9-124857931-G-A Uncertain significance (Jul 23, 2022)2143417
9-124857932-C-A Inborn genetic diseases Uncertain significance (Jan 24, 2023)2478509
9-124857933-G-A RPL35-related condition Benign/Likely benign (Feb 22, 2024)2063645
9-124857940-C-T Uncertain significance (Jan 22, 2024)1941907
9-124857941-G-T Likely benign (Aug 01, 2022)1919291
9-124857945-C-T Benign (Jan 30, 2024)721784
9-124857946-G-A Inborn genetic diseases Uncertain significance (Jan 26, 2024)2047062
9-124857955-C-T Uncertain significance (Nov 15, 2022)2421494
9-124857964-C-A Uncertain significance (Oct 14, 2023)2907632
9-124857964-C-T Uncertain significance (Jan 03, 2023)2957261
9-124857974-T-G Uncertain significance (Dec 12, 2023)2883015
9-124857989-T-G Likely benign (Jan 07, 2024)731009
9-124857996-G-A Likely benign (Aug 05, 2022)745951
9-124857996-G-C Uncertain significance (Aug 17, 2023)2722653
9-124857996-G-T RPL35-related condition Uncertain significance (Feb 14, 2024)3032762
9-124858009-C-T RPL35-related condition Likely benign (Jan 15, 2024)2901784
9-124858010-G-A Inborn genetic diseases Uncertain significance (Dec 11, 2023)2067068
9-124858013-G-A Uncertain significance (Dec 30, 2023)2869492
9-124858014-G-A Likely benign (Dec 12, 2023)2064524
9-124858023-A-G Likely benign (Sep 27, 2023)2783518
9-124858026-T-C Likely benign (Nov 16, 2022)2814746

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RPL35protein_codingprotein_codingENST00000348462 44102
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.5490.439124666011246670.00000401
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.225182.20.6200.00000573775
Missense in Polyphen39.5170.31523127
Synonymous-2.244932.71.500.00000178258
Loss of Function2.0116.560.1523.64e-776

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)0.000008870.00000887
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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