CENATAC

Chr 11

centrosomal AT-AC splicing factor

Also known as: CCDC84, DLNB14, MVA4

NCBI Gene: 338657 ENSG00000186166 UniProt: Q86UT8

This gene encodes a protein thought to contain a coiled coil motif. No function has been determined for the encoded protein. A pseudogene of this gene is located on chromosome 20. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

Research

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMosaic variegated aneuploidy syndrome 4

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (2)

gnomad: Error: gnomAD API error: 400

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

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

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 140

499 rare PASS variants

Rare truncating (LoF)

1 in 660

137 rare PASS variants

Rare synonymous (reference)

1 in 350

162 rare PASS variants

Rare missense and truncating variants are carried at similar rates in CENATAC; 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 · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 190	1 in 650
South Asian	~43k	1 in 110	1 in 1,600
Remaining (unassigned)	~30k	1 in 130	1 in 1,000
European (Finnish)	~27k	1 in 1,100	1 in 940
Admixed American	~22k	1 in 140	1 in 630
African / African American	~21k	1 in 110	1 in 730
East Asian	~20k	1 in 120	1 in 480
Ashkenazi Jewish	~13k	1 in 390	≈ 1 in 3,300
Middle Eastern	~2,884	1 in 88	≈ 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.