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; fibrillar center; and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

OMIM ResearchGenerating clinical summary…

ARLOEUF 1.311 OMIM phenotype

Clinical Summary— YY1AP1

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

16 unique Pathogenic / Likely Pathogenic· 144 VUS of 221 total submissions

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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

ClinVar Variant Classifications

221 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic8

Likely Pathogenic8

VUS144

Likely Benign34

Benign11

Conflicting1

Pathogenic

Likely Pathogenic

144

VUS

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	6	0	2	0	8
Likely Pathogenic	8	0	0	0	8
VUS	2	141	1	0	144
Likely Benign	0	18	1	15	34
Benign	0	8	0	3	11
Conflicting	—				1
Total	16	167	4	18	206

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

18 pathogenic / likely-pathogenic (of 34) ClinVar copy-number / structural variants overlap YY1AP1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →