EID1

Chr 15

EP300 interacting inhibitor of differentiation 1

Also known as: C15orf3, CRI1, EID-1, IRO45620, PNAS-22, PTD014, RBP21

NCBI Gene: 23741 ENSG00000255302 UniProt: Q9Y6B2

Enables histone acetyltransferase binding activity. Involved in cell differentiation and negative regulation of DNA-templated transcription. Acts upstream of or within negative regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

Research

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.89

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.89LOEUF

pLI 0.427

Z-score 1.74

OE 0.19 (0.07–0.89)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

-0.14Z-score

OE missense 1.04 (0.89–1.21)

112 obs / 108.0 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.19 (0.07–0.89)

0≤0.351.4

Missense OE?1.04 (0.89–1.21)

0≤0.61.4

Synonymous OE?1.07

0≤1.21.6

LoF obs/exp: 1 / 5.3Missense obs/exp: 112 / 108.0Syn Z: -0.34

Background carrier burden — how many people carry a rare variant somewhere in EID1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 410

281 rare PASS variants

Rare truncating (LoF)

1 in 11,000

21 rare PASS variants

Rare synonymous (reference)

1 in 480

110 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for EID1. 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 480	1 in 14,000
South Asian	~43k	1 in 240	1 in 5,800
Remaining (unassigned)	~30k	1 in 490	1 in 5,900
European (Finnish)	~27k	1 in 570	≈ 1 in 27,000
Admixed American	~22k	1 in 240	1 in 4,300
African / African American	~21k	1 in 410	1 in 2,800
East Asian	~20k	1 in 180	none seen
Ashkenazi Jewish	~13k	≈ 1 in 3,300	none seen
Middle Eastern	~2,884	1 in 410	1 in 450

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.

Exome coverage (gnomAD): All 1 coding exons well covered in gnomAD exomes and genomes.? see exons ↓