MORF4L1

Chr 15

mortality factor 4 like 1

Also known as: Eaf3, FWP006, HsT17725, MEAF3, MORFRG15, MRG15, S863-6

NCBI Gene: 10933 ENSG00000185787 UniProt: Q9UBU8 OMIM: 607303

Predicted to enable chromatin binding activity. Involved in double-strand break repair via homologous recombination; positive regulation of double-strand break repair via homologous recombination; and regulation of cell cycle. Located in nuclear speck. Part of NuA4 histone acetyltransferase complex and Sin3-type complex. [provided by Alliance of Genome Resources, Jun 2026]

OMIM Research

OMIM 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

0.27

LOEUF· LoF intol.

LOF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

LoF intolerant — likely haploinsufficient

LoF Constraint?

0.27LOEUF

pLI 0.993

Z-score 4.14

OE 0.08 (0.03–0.27)

Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?

1.59Z-score

OE missense 0.68 (0.59–0.79)

133 obs / 195.4 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.08 (0.03–0.27)

0≤0.351.4

Missense OE?0.68 (0.59–0.79)

0≤0.61.4

Synonymous OE?1.05

0≤1.21.6

LoF obs/exp: 2 / 23.8Missense obs/exp: 133 / 195.4Syn Z: -0.33

Background carrier burden — how many people carry a rare variant somewhere in MORF4L1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 170

369 rare PASS variants

Rare truncating (LoF)

1 in 1,700

39 rare PASS variants

Rare synonymous (reference)

1 in 240

173 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for MORF4L1. 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 240	1 in 5,200
South Asian	~43k	1 in 180	1 in 540
Remaining (unassigned)	~30k	1 in 150	1 in 630
European (Finnish)	~27k	1 in 340	none seen
Admixed American	~22k	1 in 120	1 in 4,200
African / African American	~21k	1 in 210	1 in 650
East Asian	~20k	1 in 200	≈ 1 in 9,900
Ashkenazi Jewish	~13k	1 in 370	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 570	≈ 1 in 2,900

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): 9 of 12 coding exons well covered in gnomAD exomes; exons 3, 6, 9 marginal. Genomes: all 12.? see exons ↓