TBCEL-TECTA

Chr 11

TBCEL-TECTA readthrough

Predicted to be involved in cell-matrix adhesion and sensory perception of sound. Predicted to be located in plasma membrane and side of membrane. [provided by Alliance of Genome Resources, Jun 2026]

Research

Predicted to be involved in cell-matrix adhesion and sensory perception of sound. Predicted to be located in plasma membrane and side of membrane. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in TBCEL-TECTA?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 170

421 rare PASS variants

Rare truncating (LoF)

1 in 5,200

45 rare PASS variants

Rare synonymous (reference)

1 in 170

205 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for TBCEL-TECTA. 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 170	1 in 5,300
South Asian	~43k	1 in 230	1 in 4,000
Remaining (unassigned)	~30k	1 in 150	≈ 1 in 10,000
European (Finnish)	~27k	1 in 390	≈ 1 in 6,700
Admixed American	~22k	1 in 230	1 in 4,000
African / African American	~21k	1 in 170	1 in 2,400
East Asian	~20k	1 in 290	≈ 1 in 20,000
Ashkenazi Jewish	~13k	1 in 440	none seen
Middle Eastern	~2,884	1 in 210	≈ 1 in 2,900

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.

Exome coverage (gnomAD): All 10 coding exons well covered in gnomAD exomes and genomes.? see exons ↓