TRIM59-IFT80

Chr 3

TRIM59-IFT80 readthrough (NMD candidate)

Also known as: IFT80-L

This locus represents naturally occurring readthrough transcription between the neighboring TRIM59 (tripartite motif containing 59) and IFT80 (intraflagellar transport 80) genes on chromosome 3. The readthrough transcript is unlikely to produce a protein product. [provided by RefSeq, Jun 2017]

Research

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

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in TRIM59-IFT80?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 44

1,118 rare PASS variants

Rare truncating (LoF)

1 in 390

207 rare PASS variants

Rare synonymous (reference)

1 in 120

399 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for TRIM59-IFT80. 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 82	1 in 480
South Asian	~43k	1 in 52	1 in 190
Remaining (unassigned)	~30k	1 in 37	1 in 410
European (Finnish)	~27k	1 in 240	1 in 440
Admixed American	~22k	1 in 43	1 in 390
African / African American	~21k	1 in 54	1 in 290
East Asian	~20k	1 in 60	1 in 310
Ashkenazi Jewish	~13k	1 in 380	1 in 490
Middle Eastern	~2,884	1 in 35	1 in 290

Each group is summed over the variants that are rare in that group. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 13 of 16 coding exons well covered in gnomAD exomes; exons 5, 8, 12 marginal. Genomes: all 16.? see exons ↓