BOLL
Basic information
Region (hg38): 2:197726879-197786762
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- 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.
Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
---|---|---|---|---|---|---|
synonymous | 0 | |||||
missense | 30 | 30 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 0 | 0 | 30 | 0 | 0 |
GnomAD
Source:
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:
- 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