BCL6B
BCL6B transcription repressor, the group of BTB domain containing|Zinc fingers C2H2-type
Basic information
Region (hg38): 17:7023049-7030290
Previous symbols: [ "ZNF62" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (4 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the BCL6B gene is commonly pathogenic or not.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 0 | |||||
missense | 4 | 4 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice variant | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 4 | 0 | 0 |
Variants in BCL6B
This is a list of pathogenic ClinVar variants found in the BCL6B region.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
17-7023709-A-G | Inborn genetic diseases | Uncertain significance (Jul 19, 2022) | ||
17-7024214-C-G | Inborn genetic diseases | Uncertain significance (Dec 28, 2022) | ||
17-7024270-G-T | Inborn genetic diseases | Uncertain significance (Aug 08, 2023) | ||
17-7024427-G-A | Inborn genetic diseases | Uncertain significance (Mar 01, 2023) | ||
17-7024475-G-A | Inborn genetic diseases | Uncertain significance (Sep 12, 2023) | ||
17-7024624-G-C | Inborn genetic diseases | Uncertain significance (Nov 12, 2021) | ||
17-7024692-C-G | Inborn genetic diseases | Uncertain significance (Jan 27, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
BCL6B | protein_coding | protein_coding | ENST00000293805 | 8 | 7271 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.0469 | 0.952 | 124809 | 0 | 17 | 124826 | 0.0000681 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.963 | 268 | 316 | 0.848 | 0.0000207 | 3072 |
Missense in Polyphen | 85 | 106.88 | 0.79532 | 1077 | ||
Synonymous | 0.876 | 116 | 129 | 0.902 | 0.00000868 | 1024 |
Loss of Function | 2.90 | 6 | 20.0 | 0.301 | 9.89e-7 | 223 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000290 | 0.0000290 |
Ashkenazi Jewish | 0.000105 | 0.0000993 |
East Asian | 0.000112 | 0.000111 |
Finnish | 0.0000490 | 0.0000464 |
European (Non-Finnish) | 0.0000564 | 0.0000530 |
Middle Eastern | 0.000112 | 0.000111 |
South Asian | 0.000131 | 0.000131 |
Other | 0.000334 | 0.000330 |
dbNSFP
Source:
- Function
- FUNCTION: Acts as a sequence-specific transcriptional repressor in association with BCL6. May function in a narrow stage or be related to some events in the early B-cell development. {ECO:0000269|PubMed:11855826}.;
Recessive Scores
- pRec
- 0.120
Intolerance Scores
- loftool
- 0.404
- rvis_EVS
- -0.73
- rvis_percentile_EVS
- 14.02
Haploinsufficiency Scores
- pHI
- 0.442
- hipred
- Y
- hipred_score
- 0.736
- ghis
- 0.654
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.853
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Bcl6b
- Phenotype
- hematopoietic system phenotype; immune system phenotype; growth/size/body region phenotype;
Gene ontology
- Biological process
- negative regulation of transcription by RNA polymerase II
- Cellular component
- nucleus
- Molecular function
- RNA polymerase II regulatory region sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription repressor activity, RNA polymerase II-specific;DNA binding;metal ion binding