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

ENSG00000152430NCBI:66037OMIM:606165HGNC:14273Uniprot:Q8N9W6AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

  • not_specified (30 variants)

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. These statistics are base on transcript: NM_000033030.6. 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.

EffectPLPVUSLBBSum
synonymous
0
missense
30
clinvar
30
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 30 0 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
BOLLprotein_codingprotein_codingENST00000321801 1159884
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.05830.9411257350121257470.0000477
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.8661231530.8030.000007421887
Missense in Polyphen3443.8840.77478559
Synonymous0.8094552.50.8580.00000282562
Loss of Function2.98620.60.2929.73e-7249

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.0001220.000109
Finnish0.000.00
European (Non-Finnish)0.00009070.0000879
Middle Eastern0.0001220.000109
South Asian0.000.00
Other0.000.00

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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