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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:Q8N143AlphaFoldGenCCjaxSfariGnomADPubmed

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 (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)link
17-7024214-C-G Inborn genetic diseases Uncertain significance (Dec 28, 2022)link
17-7024270-G-T Inborn genetic diseases Uncertain significance (Aug 08, 2023)link
17-7024427-G-A Inborn genetic diseases Uncertain significance (Mar 01, 2023)link
17-7024475-G-A Inborn genetic diseases Uncertain significance (Sep 12, 2023)link
17-7024624-G-C Inborn genetic diseases Uncertain significance (Nov 12, 2021)link
17-7024692-C-G Inborn genetic diseases Uncertain significance (Jan 27, 2022)link

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