ELL3

Chr 15

elongation factor for RNA polymerase II 3

NCBI Gene: 80237 ENSG00000128886 UniProt: Q9HB65 OMIM: 609885

Predicted to enable cis-regulatory region sequence-specific DNA binding activity. Involved in positive regulation of DNA-templated transcription and transcription by RNA polymerase II. Located in nucleoplasm. Part of transcription elongation factor complex. [provided by Alliance of Genome Resources, Jun 2026]

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

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Mechanism

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 ELL3?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 100

539 rare PASS variants

Rare truncating (LoF)

1 in 1,000

148 rare PASS variants

Rare synonymous (reference)

1 in 330

203 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ELL3. 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 140	1 in 1,200
South Asian	~43k	1 in 110	1 in 660
Remaining (unassigned)	~30k	1 in 140	1 in 620
European (Finnish)	~27k	1 in 360	1 in 1,900
Admixed American	~22k	1 in 160	1 in 930
African / African American	~21k	1 in 90	1 in 1,400
East Asian	~20k	1 in 140	1 in 530
Ashkenazi Jewish	~13k	1 in 390	≈ 1 in 3,200
Middle Eastern	~2,884	1 in 80	1 in 410

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.