BCL9L

Chr 11

BCL9 like

Also known as: B9L, BCL9-2, DLNB11

NCBI Gene: 283149 ENSG00000186174 UniProt: Q86UU0 OMIM: 609004

Enables beta-catenin binding activity. Involved in several processes, including negative regulation of transforming growth factor beta receptor signaling pathway; positive regulation of epithelial to mesenchymal transition; and positive regulation of transcription by RNA polymerase II. Located in fibrillar center and nucleoplasm. Part of beta-catenin-TCF complex. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in BCL9L?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 29

2,155 rare PASS variants

Rare truncating (LoF)

1 in 1,900

96 rare PASS variants

Rare synonymous (reference)

1 in 35

966 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for BCL9L. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 42	1 in 2,200
South Asian	~43k	1 in 26	1 in 2,100
Remaining (unassigned)	~30k	1 in 30	1 in 430
European (Finnish)	~27k	1 in 130	1 in 420
Admixed American	~22k	1 in 24	1 in 3,800
African / African American	~21k	1 in 35	1 in 2,200
East Asian	~20k	1 in 33	≈ 1 in 9,900
Ashkenazi Jewish	~13k	1 in 110	1 in 2,000
Middle Eastern	~2,884	1 in 26	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.