MLF1

Chr 3

myeloid leukemia factor 1

NCBI Gene: 4291 ENSG00000178053 UniProt: P58340 OMIM: 601402

This gene encodes an oncoprotein which is thought to play a role in the phenotypic determination of hemopoetic cells. Translocations between this gene and nucleophosmin have been associated with myelodysplastic syndrome and acute myeloid leukemia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.22

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.22LOEUF

pLI 0.000

Z-score 0.84

OE 0.79 (0.53–1.22)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.59Z-score

OE missense 0.86 (0.75–1.00)

129 obs / 149.2 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.79 (0.53–1.22)

0≤0.351.4

Missense OE?0.86 (0.75–1.00)

0≤0.61.4

Synonymous OE?0.71

0≤1.21.6

LoF obs/exp: 15 / 18.9Missense obs/exp: 129 / 149.2Syn Z: 1.55

Background carrier burden — how many people carry a rare variant somewhere in MLF1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 120

409 rare PASS variants

Rare truncating (LoF)

1 in 1,000

111 rare PASS variants

Rare synonymous (reference)

1 in 670

114 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for MLF1. 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 1,500
South Asian	~43k	1 in 130	1 in 530
Remaining (unassigned)	~30k	1 in 140	1 in 820
European (Finnish)	~27k	1 in 530	1 in 5,300
Admixed American	~22k	1 in 120	1 in 420
African / African American	~21k	1 in 150	1 in 700
East Asian	~20k	1 in 120	1 in 900
Ashkenazi Jewish	~13k	1 in 460	1 in 1,400
Middle Eastern	~2,884	1 in 100	≈ 1 in 1,400

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): 5 of 8 coding exons well covered in gnomAD exomes; exons 3, 4, 6 marginal. Genomes: all 8.? see exons ↓