YAF2

Chr 12

YY1 associated factor 2

NCBI Gene: 10138 ENSG00000015153 UniProt: Q8IY57 OMIM: 607534

This gene encodes a zinc finger containing protein that functions in the regulation of transcription. This protein was identified as an interacting partner of transcriptional repressor protein Yy1, and also interacts with other transcriptional regulators, including Myc and Polycomb. This protein can promote proteolysis of Yy1. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Feb 2016]

OMIM Research

OMIM 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

LOF

Mechanism· predicted

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 YAF2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 340

259 rare PASS variants

Rare truncating (LoF)

1 in 1,800

43 rare PASS variants

Rare synonymous (reference)

1 in 340

118 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for YAF2. 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 400	1 in 1,600
South Asian	~43k	1 in 570	1 in 6,700
Remaining (unassigned)	~30k	1 in 250	1 in 1,900
European (Finnish)	~27k	1 in 1,900	1 in 3,700
Admixed American	~22k	1 in 540	1 in 2,400
African / African American	~21k	1 in 430	1 in 3,300
East Asian	~20k	1 in 250	none seen
Ashkenazi Jewish	~13k	1 in 1,400	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 320	≈ 1 in 2,800

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.