RRS1

ribosome biogenesis regulator 1 homolog, the group of Ribosomal biogenesis factors

Basic information

Region (hg38): 8:66429014-66430733

Links

ENSG00000179041 ∙ NCBI:23212 ∙ OMIM:618311 ∙ HGNC:17083 ∙ Uniprot:Q15050 ∙ 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 RRS1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RRS1 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	2
missense			19	1	1	21
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	1	3

Variants in RRS1

This is a list of pathogenic ClinVar variants found in the RRS1 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-66429142-A-G		not specified	Uncertain significance (Mar 23, 2022)
8-66429216-G-C		not specified	Uncertain significance (Dec 15, 2023)
8-66429246-C-A		not specified	Uncertain significance (Nov 07, 2022)
8-66429246-C-T			Benign (Apr 26, 2018)
8-66429276-G-C		not specified	Uncertain significance (Jun 16, 2023)
8-66429389-G-C		not specified	Uncertain significance (Jul 06, 2021)
8-66429442-C-A		not specified	Uncertain significance (Sep 20, 2023)
8-66429454-C-T		not specified	Uncertain significance (May 31, 2023)
8-66429457-G-A		not specified	Uncertain significance (May 21, 2024)
8-66429475-A-T		not specified	Uncertain significance (Oct 12, 2022)
8-66429514-A-C		not specified	Uncertain significance (May 10, 2024)
8-66429559-G-A		not specified	Uncertain significance (Oct 03, 2023)
8-66429619-A-G		not specified	Uncertain significance (Aug 17, 2021)
8-66429685-A-G		not specified	Uncertain significance (Apr 09, 2024)
8-66429718-C-T		not specified	Uncertain significance (Jul 08, 2022)
8-66429761-C-G			Benign (Jan 12, 2018)
8-66429783-C-G		not specified	Uncertain significance (Jul 13, 2022)
8-66429867-C-T		not specified	Uncertain significance (Dec 01, 2022)
8-66429930-A-T			Likely benign (Mar 29, 2018)
8-66429951-G-A		not specified	Uncertain significance (May 30, 2024)
8-66429990-G-A		not specified	Uncertain significance (Jan 29, 2024)
8-66430017-G-A			Benign (May 16, 2018)
8-66430035-A-G		not specified	Uncertain significance (Mar 23, 2022)
8-66430125-G-C		not specified	Uncertain significance (Oct 12, 2021)
8-66430149-G-A		not specified	Uncertain significance (Apr 29, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RRS1	protein_coding	protein_coding	ENST00000320270	1	1704

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.177	0.811	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.199	202	210	0.961	0.00000939	2325
Missense in Polyphen		56	63.895	0.87644		718
Synonymous	0.181	89	91.2	0.976	0.00000416	761
Loss of Function	2.18	3	10.7	0.280	4.64e-7	118

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)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in ribosomal large subunit assembly. May regulate the localization of the 5S RNP/5S ribonucleoprotein particle to the nucleolus. {ECO:0000269|PubMed:24120868}.

Recessive Scores

• pRec: 0.204

Intolerance Scores

• loftool: 0.294
• rvis_EVS: 0.97
• rvis_percentile_EVS: 90.27

Haploinsufficiency Scores

• pHI: 0.528
• hipred: Y
• hipred_score: 0.744

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.899

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rrs1

Gene ontology

• Biological process: ribosomal large subunit assembly;ribosomal large subunit export from nucleus;endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);hematopoietic progenitor cell differentiation;mitotic metaphase plate congression;ribosomal large subunit biogenesis;regulation of signal transduction by p53 class mediator;protein localization to nucleolus
• Cellular component: condensed nuclear chromosome;fibrillar center;nucleus;nucleolus;endoplasmic reticulum;preribosome, large subunit precursor
• Molecular function: RNA binding;protein binding;5S rRNA binding