YY1AP1

Chr 1AR

YY1 associated protein 1

Also known as: GRNG, HCCA1, HCCA2, YY1AP

NCBI Gene: 55249 ENSG00000163374 UniProt: Q9H869 OMIM: 607860

Involved in cell differentiation; cell population proliferation; and regulation of cell cycle. Located in Ino80 complex; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

OMIM Research

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Grange syndromeMIM #602531

Clinical highlights

Gene–disease validity

Not independently assessedOMIM lists Grange syndrome; no ClinGen or GenCC tier

Active trials

—

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.31

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.31LOEUF

pLI 0.000

Z-score 0.23

OE 0.95 (0.71–1.31)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-1.18Z-score

OE missense 1.15 (1.07–1.24)

539 obs / 467.1 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.95 (0.71–1.31)

0≤0.351.4

Missense OE?1.15 (1.07–1.24)

0≤0.61.4

Synonymous OE?1.19

0≤1.21.6

LoF obs/exp: 28 / 29.3Missense obs/exp: 539 / 467.1Syn Z: -1.98

Background carrier burden — how many people carry a rare variant somewhere in YY1AP1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 52

1,184 rare PASS variants

Rare truncating (LoF)

1 in 360

223 rare PASS variants

Rare synonymous (reference)

1 in 70

459 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for YY1AP1. 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 69	1 in 520
South Asian	~43k	1 in 40	1 in 270
Remaining (unassigned)	~30k	1 in 39	1 in 630
European (Finnish)	~27k	1 in 97	1 in 2,200
Admixed American	~22k	1 in 39	1 in 630
African / African American	~21k	1 in 39	1 in 790
East Asian	~20k	1 in 55	1 in 160
Ashkenazi Jewish	~13k	1 in 200	1 in 870
Middle Eastern	~2,884	1 in 68	1 in 480

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): All 9 coding exons well covered in gnomAD exomes and genomes.? see exons ↓