DNAAF4-CCPG1

Chr 15

DNAAF4-CCPG1 readthrough (NMD candidate)

Also known as: DYX1C1-CCPG1

This locus represents naturally occurring read-through transcription between the neighboring dyslexia susceptibility 1 candidate 1 (DYX1C1) and cell cycle progression 1 (CCPG1) genes on chromosome 15. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Mar 2011]

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

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 DNAAF4-CCPG1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

none observed

0 rare PASS variants

Rare truncating (LoF)

1 in 4,200

27 rare PASS variants

Rare synonymous (reference)

none observed

0 rare PASS variants

Rare missense and truncating variants are carried at similar rates in DNAAF4-CCPG1; this gene does not show strong loss-of-function constraint by this measure. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 8 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	none seen	1 in 4,100
South Asian	~43k	none seen	≈ 1 in 20,000
Remaining (unassigned)	~30k	none seen	1 in 4,900
European (Finnish)	~27k	none seen	≈ 1 in 13,000
Admixed American	~22k	none seen	≈ 1 in 7,400
African / African American	~21k	none seen	≈ 1 in 21,000
East Asian	~20k	none seen	1 in 1,900
Ashkenazi Jewish	~13k	none seen	≈ 1 in 13,000

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.