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GeneBe

RPL35A

ribosomal protein L35a, the group of L ribosomal proteins

Basic information

Region (hg38): 3:197950189-197956610

Links

ENSG00000182899NCBI:6165OMIM:180468HGNC:10345Uniprot:P18077AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • Diamond-Blackfan anemia 5 (Strong), mode of inheritance: AD
  • Diamond-Blackfan anemia 5 (Strong), mode of inheritance: AD
  • Diamond-Blackfan anemia (Supportive), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Diamond-Blackfan anemia 5ADHematologic; OncologicSpecific treatment of anemia (eg, steroids, regular transfusions) can be effective; surveillance for and early treatment of malignancy may be beneficial; Individuals with DBA may manifest a variety of congenital malformations, and awareness may allow prompt detection and managementCraniofacial; Hematologic; Oncologic16317735; 18535205; 20301769; 23812780

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RPL35A gene.

  • Diamond-Blackfan anemia 5 (78 variants)
  • Diamond-Blackfan anemia (13 variants)
  • not provided (12 variants)
  • not specified (3 variants)
  • RPL35A-related condition (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RPL35A 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
2
clinvar
17
clinvar
19
missense
1
clinvar
25
clinvar
2
clinvar
28
nonsense
1
clinvar
1
start loss
0
frameshift
3
clinvar
3
inframe indel
0
splice donor/acceptor (+/-2bp)
2
clinvar
1
clinvar
3
splice region
5
5
1
11
non coding
1
clinvar
21
clinvar
5
clinvar
27
Total 4 3 29 40 5

Variants in RPL35A

This is a list of pathogenic ClinVar variants found in the RPL35A region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
3-197950217-T-G Diamond-Blackfan anemia 5 Uncertain significance (Jan 12, 2018)344524
3-197950221-G-A Diamond-Blackfan anemia 5 Uncertain significance (Jan 12, 2018)344525
3-197950237-G-C not specified Likely benign (Nov 27, 2017)517048
3-197950795-G-A Benign (May 20, 2019)1297422
3-197950933-A-G Diamond-Blackfan anemia 5 Benign (Jan 13, 2018)344526
3-197950934-A-T Diamond-Blackfan anemia 5 Uncertain significance (Jun 03, 2022)2435475
3-197950937-C-T Diamond-Blackfan anemia 5 Uncertain significance (Jan 13, 2018)344527
3-197950981-A-G Diamond-Blackfan anemia 5 Uncertain significance (Jun 27, 2023)2689883
3-197950982-C-T Diamond-Blackfan anemia 5 Uncertain significance (Dec 03, 2022)3014340
3-197950984-C-A Diamond-Blackfan anemia 5 Uncertain significance (Nov 15, 2022)3013668
3-197950989-T-C Diamond-Blackfan anemia 5 Likely benign (Apr 13, 2022)1597053
3-197950995-T-C Diamond-Blackfan anemia 5 Likely benign (Jul 06, 2022)1602324
3-197951141-G-A Diamond-Blackfan anemia 5 Likely benign (Nov 13, 2023)1657303
3-197951141-G-T Diamond-Blackfan anemia 5 Likely benign (Jan 11, 2024)2916051
3-197951145-CT-C Diamond-Blackfan anemia 5 Benign (Feb 16, 2023)1670897
3-197951146-T-A Diamond-Blackfan anemia 5 Likely benign (Apr 23, 2021)1643217
3-197951152-G-T Diamond-Blackfan anemia 5 Likely benign (Dec 16, 2019)1079102
3-197951154-C-G Diamond-Blackfan anemia 5 • Diamond-Blackfan anemia • RPL35A-related condition Conflicting classifications of pathogenicity (May 24, 2023)1015847
3-197951154-C-T Diamond-Blackfan anemia 5 Likely benign (Mar 22, 2023)2733633
3-197951155-T-G Diamond-Blackfan anemia 5 Likely benign (Mar 29, 2023)2190254
3-197951163-T-C Diamond-Blackfan anemia 5 Uncertain significance (Feb 01, 2022)2435474
3-197951168-C-T not specified • RPL35A-related condition • Diamond-Blackfan anemia • Diamond-Blackfan anemia 5 Benign/Likely benign (Dec 18, 2023)344528
3-197951175-A-G Diamond-Blackfan anemia 5 • RPL35A-related condition Uncertain significance (Mar 07, 2023)1443120
3-197951180-T-C Diamond-Blackfan anemia 5 Likely benign (May 01, 2021)1614741
3-197951181-G-A Diamond-Blackfan anemia 5 Uncertain significance (Aug 30, 2023)942903

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RPL35Aprotein_codingprotein_codingENST00000464167 46624
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.8950.10400000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.373363.80.5170.00000379701
Missense in Polyphen37.13760.42031117
Synonymous-1.863321.91.510.00000123223
Loss of Function2.5107.310.004.48e-775

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

Function
FUNCTION: Required for the proliferation and viability of hematopoietic cells. Plays a role in 60S ribosomal subunit formation. The protein was found to bind to both initiator and elongator tRNAs and consequently was assigned to the P site or P and A site. {ECO:0000269|PubMed:18535205}.;
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
0.212

Intolerance Scores

loftool
rvis_EVS
0.28
rvis_percentile_EVS
70.87

Haploinsufficiency Scores

pHI
0.254
hipred
Y
hipred_score
0.783
ghis
0.621

Essentials

essential_gene_CRISPR
E
essential_gene_CRISPR2
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.925

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Rpl35a
Phenotype

Zebrafish Information Network

Gene name
rpl35a
Affected structure
nucleate erythrocyte
Phenotype tag
abnormal
Phenotype quality
decreased amount

Gene ontology

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