RPL35

ribosomal protein L35, the group of L ribosomal proteins

Basic information

Region (hg38): 9:124857879-124861981

Links

ENSG00000136942 ∙ NCBI:11224 ∙ OMIM:618315 ∙ HGNC:10344 ∙ Uniprot:P42766 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

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

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 ClinVar and linked to the RPL35 gene.

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	1	17
missense			20	2		22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region			3	1		4
non coding				11	2	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/Likely benign (Feb 22, 2024)
9-124857940-C-T			Uncertain significance (Jan 22, 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			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 15, 2024)
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: gnomAD

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: 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

• 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

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