BOLL

boule homolog, RNA binding protein, the group of RNA binding motif containing|DAZ RNA binding protein family

Basic information

Region (hg38): 2:197726879-197786762

Links

ENSG00000152430 ∙ NCBI:66037 ∙ OMIM:606165 ∙ HGNC:14273 ∙ Uniprot:Q8N9W6 ∙ 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 BOLL gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BOLL 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			19
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	0	0

Variants in BOLL

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

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

Position	Type	Phenotype	Significance	ClinVar
2-197743076-C-G		not specified	Uncertain significance (Mar 04, 2024)
2-197743089-G-A		not specified	Uncertain significance (Jul 26, 2021)
2-197743126-G-A		not specified	Uncertain significance (May 25, 2022)
2-197756444-T-C		not specified	Uncertain significance (Dec 23, 2024)
2-197756547-A-G		not specified	Uncertain significance (Apr 08, 2024)
2-197757358-G-A		not specified	Uncertain significance (Dec 13, 2021)
2-197757358-G-T		not specified	Uncertain significance (Sep 26, 2024)
2-197757385-A-C		not specified	Uncertain significance (Oct 19, 2024)
2-197757399-G-T		not specified	Uncertain significance (Nov 15, 2023)
2-197766569-G-A		not specified	Uncertain significance (Apr 06, 2024)
2-197766570-C-G		not specified	Uncertain significance (Dec 21, 2022)
2-197766591-A-C		not specified	Uncertain significance (Jan 26, 2022)
2-197771868-G-A		not specified	Uncertain significance (Dec 13, 2021)
2-197771974-T-C		not specified	Uncertain significance (Oct 05, 2023)
2-197771976-C-G		not specified	Uncertain significance (Aug 22, 2023)
2-197775704-T-C		not specified	Uncertain significance (Sep 30, 2024)
2-197775730-A-G		not specified	Uncertain significance (Mar 14, 2025)
2-197777093-T-C		not specified	Uncertain significance (May 24, 2023)
2-197778978-T-C		not specified	Uncertain significance (Sep 02, 2024)
2-197779060-C-T		not specified	Uncertain significance (Dec 03, 2024)
2-197781805-C-T		not specified	Uncertain significance (Mar 25, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BOLL	protein_coding	protein_coding	ENST00000321801	11	59884

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0583	0.941	125735	0	12	125747	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.866	123	153	0.803	0.00000742	1887
Missense in Polyphen		34	43.884	0.77478		559
Synonymous	0.809	45	52.5	0.858	0.00000282	562
Loss of Function	2.98	6	20.6	0.292	9.73e-7	249

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.000122	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000907	0.0000879
Middle Eastern	0.000122	0.000109
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable RNA-binding protein, which may be required during spermatogenesis. May act by binding to the 3'-UTR of mRNAs and regulating their translation (By similarity). {ECO:0000250}.

Recessive Scores

• pRec: 0.0931

Intolerance Scores

• loftool: 0.830
• rvis_EVS: 0.17
• rvis_percentile_EVS: 65.56

Haploinsufficiency Scores

• pHI: 0.210
• hipred: Y
• hipred_score: 0.678
• ghis: 0.413

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.698

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Boll
• Phenotype: reproductive system phenotype; cellular phenotype; endocrine/exocrine gland phenotype

Gene ontology

• Biological process: multicellular organism development;germ cell development;spermatogenesis;positive regulation of translational initiation;meiotic cell cycle;3'-UTR-mediated mRNA stabilization
• Cellular component: cytoplasm
• Molecular function: mRNA 3'-UTR binding;protein binding;translation activator activity