RPL26L1

ribosomal protein L26 like 1, the group of L ribosomal proteins

Basic information

Region (hg38): 5:172958729-172969771

Previous symbols: [ "RPL26P1" ]

Links

ENSG00000037241 ∙ NCBI:51121 ∙ ∙ HGNC:17050 ∙ Uniprot:Q9UNX3 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RPL26L1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RPL26L1 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						0
missense			10			10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	0	0

Variants in RPL26L1

This is a list of pathogenic ClinVar variants found in the RPL26L1 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-172959923-G-A		not specified	Uncertain significance (Nov 10, 2022)
5-172959932-A-G		not specified	Uncertain significance (Jun 01, 2023)
5-172959954-G-T		not specified	Uncertain significance (Jun 07, 2023)
5-172959989-G-A		not specified	Uncertain significance (Aug 26, 2022)
5-172960007-G-A		not specified	Uncertain significance (Oct 25, 2023)
5-172960018-A-T		not specified	Uncertain significance (Jun 10, 2024)
5-172960040-A-C		not specified	Uncertain significance (Mar 29, 2024)
5-172968463-T-A		not specified	Uncertain significance (Dec 14, 2023)
5-172968570-A-G		not specified	Uncertain significance (Jan 23, 2024)
5-172968583-G-A		not specified	Uncertain significance (Jun 05, 2023)
5-172969464-C-T		not specified	Uncertain significance (Jan 10, 2022)
5-172969489-G-T		not specified	Uncertain significance (Jun 18, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RPL26L1	protein_coding	protein_coding	ENST00000521476	3	11043

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000988	0.605	125725	0	22	125747	0.0000875

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.229	79	84.9	0.930	0.00000477	942
Missense in Polyphen		5	8.2442	0.60649		119
Synonymous	0.560	26	29.9	0.870	0.00000152	270
Loss of Function	0.525	5	6.44	0.777	4.06e-7	72

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000202	0.000202
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000123	0.000123
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Pathway: Ribosome - Homo sapiens (human);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: 0.124

Intolerance Scores

• rvis_EVS: -0.16
• rvis_percentile_EVS: 41.25

Haploinsufficiency Scores

• pHI: 0.136
• hipred: Y
• hipred_score: 0.729
• ghis: 0.676

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.634

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Gene ontology

• Biological process: cytoplasmic translation;ribosomal large subunit biogenesis
• Cellular component: cytosolic large ribosomal subunit;extracellular exosome
• Molecular function: RNA binding;structural constituent of ribosome