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GeneBe

BCL7B

BAF chromatin remodeling complex subunit BCL7B, the group of BAF complex

Basic information

Region (hg38): 7:73536355-73557690

Links

ENSG00000106635NCBI:9275OMIM:605846HGNC:1005Uniprot:Q9BQE9AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the BCL7B gene.

  • Inborn genetic diseases (5 variants)
  • not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BCL7B 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
1
clinvar
1
missense
5
clinvar
5
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
1
clinvar
1
Total 0 0 5 2 0

Variants in BCL7B

This is a list of pathogenic ClinVar variants found in the BCL7B region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
7-73537310-C-G Likely benign (Dec 01, 2022)2657554
7-73539906-T-C Inborn genetic diseases Uncertain significance (Oct 05, 2022)2362099
7-73539944-T-A Inborn genetic diseases Uncertain significance (Jan 06, 2023)2473713
7-73540029-C-A Inborn genetic diseases Uncertain significance (May 04, 2023)2543655
7-73543596-A-G Inborn genetic diseases Uncertain significance (Aug 20, 2023)2619587
7-73553638-A-C Likely benign (May 01, 2022)2657555
7-73557563-C-G Inborn genetic diseases Uncertain significance (Mar 27, 2023)2529959

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
BCL7Bprotein_codingprotein_codingENST00000223368 621647
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.1850.804125739091257480.0000358
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.22771140.6780.000006491303
Missense in Polyphen2544.3310.56394531
Synonymous0.007134949.10.9990.00000318403
Loss of Function2.21310.90.2765.47e-7124

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.00009930.0000992
East Asian0.000.00
Finnish0.0002310.000231
European (Non-Finnish)0.00002710.0000264
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Positive regulator of apoptosis. Plays a role in the Wnt signaling pathway, negatively regulating the expression of Wnt signaling components CTNNB1 and HMGA1 (PubMed:25569233). Involved in cell cycle progression, maintenance of the nuclear structure and stem cell differentiation (PubMed:25569233). May play a role in lung tumor development or progression (By similarity). {ECO:0000250|UniProtKB:Q921K9, ECO:0000269|PubMed:25569233}.;

Recessive Scores

pRec
0.136

Intolerance Scores

loftool
0.340
rvis_EVS
-0.21
rvis_percentile_EVS
38.28

Haploinsufficiency Scores

pHI
0.376
hipred
Y
hipred_score
0.591
ghis
0.511

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
S
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.276

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumLowLow
Primary ImmunodeficiencyMediumLowMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Bcl7b
Phenotype

Gene ontology

Biological process
apoptotic process;biological_process;Wnt signaling pathway;cell differentiation
Cellular component
cellular_component
Molecular function
actin binding;protein binding