BOP1

BOP1 ribosomal biogenesis factor, the group of WD repeat domain containing|PeBoW complex|MicroRNA protein coding host genes

Basic information

Region (hg38): 8:144262045-144291438

Links

ENSG00000261236 ∙ NCBI:23246 ∙ OMIM:610596 ∙ HGNC:15519 ∙ Uniprot:Q14137 ∙ 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 BOP1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BOP1 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			19	2		21
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1			1
Total	0	0	20	2	0

Variants in BOP1

This is a list of pathogenic ClinVar variants found in the BOP1 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-144262943-C-T		not specified	Uncertain significance (Sep 17, 2021)
8-144262975-C-T		not specified	Uncertain significance (Sep 27, 2021)
8-144263017-C-T		not specified	Uncertain significance (Feb 10, 2022)
8-144263020-C-T		not specified	Uncertain significance (Dec 28, 2022)
8-144263021-G-A		not specified	Uncertain significance (Jul 30, 2024)
8-144263033-G-C		not specified	Uncertain significance (Dec 16, 2022)
8-144263045-G-A		not specified	Uncertain significance (Mar 22, 2023)
8-144263256-G-C		not specified	Uncertain significance (Feb 24, 2025)
8-144263268-C-T		not specified	Uncertain significance (Nov 08, 2024)
8-144263319-C-T		not specified	Likely benign (Sep 17, 2021)
8-144263345-C-T		not specified	Uncertain significance (Oct 12, 2021)
8-144267025-G-A		not specified	Uncertain significance (Apr 25, 2022)
8-144289111-G-A		not specified	Uncertain significance (May 01, 2022)
8-144289127-C-T		not specified	Likely benign (Jun 24, 2022)
8-144289145-C-G		not specified	Uncertain significance (Feb 12, 2025)
8-144289166-C-G		not specified	Uncertain significance (Jul 31, 2024)
8-144289169-C-G		not specified	Uncertain significance (Oct 06, 2024)
8-144289229-C-T		not specified	Uncertain significance (Feb 23, 2025)
8-144289244-C-T		not specified	Uncertain significance (Apr 15, 2024)
8-144289255-G-A		not specified	Uncertain significance (Mar 15, 2024)
8-144289265-C-T		not specified	Uncertain significance (Aug 03, 2022)
8-144289303-G-A		not specified	Uncertain significance (Oct 26, 2021)
8-144289303-G-T		not specified	Uncertain significance (Feb 01, 2023)
8-144291296-T-G		not specified	Uncertain significance (Dec 16, 2024)
8-144291309-C-T		not specified	Uncertain significance (Jan 20, 2025)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of the PeBoW complex, which is required for maturation of 28S and 5.8S ribosomal RNAs and formation of the 60S ribosome. {ECO:0000255|HAMAP-Rule:MF_03027, ECO:0000269|PubMed:17353269, ECO:0000269|PubMed:24120868}.

Recessive Scores

• pRec: 0.139

Haploinsufficiency Scores

• pHI: 0.654
• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: H
• gene_indispensability_pred: E
• gene_indispensability_score: 0.804

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Bop1

Gene ontology

• Biological process: ribosomal large subunit assembly;cleavage in ITS2 between 5.8S rRNA and LSU-rRNA of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);rRNA processing;cell population proliferation;ribosome biogenesis;regulation of cell cycle;regulation of signal transduction by p53 class mediator
• Cellular component: nucleus;nucleoplasm;nucleolus;preribosome, large subunit precursor;PeBoW complex;ribonucleoprotein complex
• Molecular function: RNA binding;protein binding;ribonucleoprotein complex binding