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.

not_specified (30 variants)

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. These statistics are base on transcript: NM_000015201.5. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			26 clinvar	3 clinvar		29
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	26	3	0

Loading clinvar variants...

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
ghis

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
Phenotype

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