BCL6B
Basic information
Region (hg38): 17:7023049-7030290
Previous symbols: [ "ZNF62" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
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.
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 | 10 | 10 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region ? | 0 | |||||
non coding ? | 0 | |||||
Total | 0 | 0 | 10 | 0 | 0 |
Variants in BCL6B
This is a list of pathogenic ClinVar variants found in the BCL6B region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
17-7023708-T-C | not specified | Uncertain significance (Jan 03, 2024) | ||
17-7023709-A-G | not specified | Uncertain significance (Jul 19, 2022) | ||
17-7023771-C-T | not specified | Uncertain significance (Dec 16, 2023) | ||
17-7024096-T-C | not specified | Uncertain significance (May 28, 2024) | ||
17-7024214-C-G | not specified | Uncertain significance (Dec 28, 2022) | ||
17-7024228-C-T | not specified | Uncertain significance (Feb 28, 2024) | ||
17-7024270-G-T | not specified | Uncertain significance (Aug 08, 2023) | ||
17-7024427-G-A | not specified | Uncertain significance (Mar 01, 2023) | ||
17-7024475-G-A | not specified | Uncertain significance (Sep 12, 2023) | ||
17-7024624-G-C | not specified | Uncertain significance (Nov 12, 2021) | ||
17-7024692-C-G | not specified | 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