Menu
GeneBe

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

ENSG00000161940NCBI:255877OMIM:608992HGNC:1002Uniprot:Q8N143AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the BCL6B gene.

  • Inborn genetic diseases (7 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.

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
7
clinvar
7
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 7 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
17-7023709-A-G Inborn genetic diseases Uncertain significance (Jul 19, 2022)2400572
17-7024214-C-G Inborn genetic diseases Uncertain significance (Dec 28, 2022)2340570
17-7024270-G-T Inborn genetic diseases Uncertain significance (Aug 08, 2023)2616844
17-7024427-G-A Inborn genetic diseases Uncertain significance (Mar 01, 2023)2465647
17-7024475-G-A Inborn genetic diseases Uncertain significance (Sep 12, 2023)2594778
17-7024624-G-C Inborn genetic diseases Uncertain significance (Nov 12, 2021)2260934
17-7024692-C-G Inborn genetic diseases Uncertain significance (Jan 27, 2022)2274380

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
BCL6Bprotein_codingprotein_codingENST00000293805 87271
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.04690.9521248090171248260.0000681
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.9632683160.8480.00002073072
Missense in Polyphen85106.880.795321077
Synonymous0.8761161290.9020.000008681024
Loss of Function2.90620.00.3019.89e-7223

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00002900.0000290
Ashkenazi Jewish0.0001050.0000993
East Asian0.0001120.000111
Finnish0.00004900.0000464
European (Non-Finnish)0.00005640.0000530
Middle Eastern0.0001120.000111
South Asian0.0001310.000131
Other0.0003340.000330

dbNSFP

Source: dbNSFP

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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