BCL7B
Chr 7BAF chromatin remodeling complex subunit BCL7B
The protein encoded by this gene positively regulates apoptosis, negatively regulates Wnt signaling components CTNNB1 and HMGA1, and is involved in cell cycle progression and stem cell differentiation. BCL7B is located in a chromosomal region commonly deleted in Williams syndrome, though specific disease associations with isolated BCL7B mutations are not well-established in the provided data. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.714).
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
BCL7B · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools