TBCEL

Chr 11

tubulin folding cofactor E like

Also known as: El, LRRC35

NCBI Gene: 219899 ENSG00000154114 UniProt: Q5QJ74

Predicted to enable alpha-tubulin binding activity. Predicted to be involved in microtubule cytoskeleton organization; post-chaperonin tubulin folding pathway; and tubulin complex assembly. Predicted to be located in cytoskeleton. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

Research

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.31

LOEUF· LoF intol.

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Mechanism

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

LoF intolerant — likely haploinsufficient

LoF Constraint?

0.31LOEUF

pLI 0.975

Z-score 3.75

OE 0.10 (0.04–0.31)

Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?

2.77Z-score

OE missense 0.48 (0.41–0.57)

110 obs / 227.3 exp

Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?

LoF OE?0.10 (0.04–0.31)

0≤0.351.4

Missense OE?0.48 (0.41–0.57)

0≤0.61.4

Synonymous OE?0.86

0≤1.21.6

LoF obs/exp: 2 / 20.1Missense obs/exp: 110 / 227.3Syn Z: 1.02

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

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 170

342 rare PASS variants

Rare truncating (LoF)

1 in 5,000

34 rare PASS variants

Rare synonymous (reference)

1 in 200

186 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for TBCEL. 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 160	1 in 4,500
South Asian	~43k	1 in 410	1 in 6,500
Remaining (unassigned)	~30k	1 in 150	1 in 4,800
European (Finnish)	~27k	1 in 390	≈ 1 in 8,900
Admixed American	~22k	1 in 170	≈ 1 in 4,900
African / African American	~21k	1 in 240	1 in 2,800
East Asian	~20k	1 in 480	none seen
Ashkenazi Jewish	~13k	1 in 1,600	none seen
Middle Eastern	~2,884	1 in 240	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.

Exome coverage (gnomAD): All 7 coding exons well covered in gnomAD exomes and genomes.? see exons ↓