MLLT6
Chr 17MLLT6, PHD finger containing
Also known as: AF17
Enables histone binding activity and nucleosome binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including renal potassium excretion; renal sodium excretion; and renal water absorption. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]
Clinical Summary— MLLT6
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Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
LoF intolerant — likely haploinsufficient
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.18LOEUF
pLI 1.000
Z-score 5.62
OE 0.07 (0.03–0.18)
Highly LoF-intolerant (top ~10% of genes)
Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
2.10Z-score
OE missense 0.76 (0.70–0.82)
454 obs / 598.6 exp
Moderately missense-constrained (top ~2.5%)
Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.07 (0.03–0.18)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.76 (0.70–0.82)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.03
0≤1.21.6
LoF obs/exp: 3 / 42.5Missense obs/exp: 454 / 598.6Syn Z: -0.43
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MLLT6 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
OMIM — Genotype-Phenotype Relationships
1 OMIM entry
MLLT6, PHD FINGER-CONTAINING; MLLT6
MIM #600328 · *
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
ZNF142 mutation causes sex-dependent neurologic disorder.
Proskorovski-Ohayon R et al.·J Med Genet
2024
Whole-genome sequencing analysis of clozapine-induced myocarditis.
Narang A et al.·Pharmacogenomics J
2022
MX1 is a novel crucial prognostic and therapeutic target inducing chemoresistance in right-sided colon cancer: insights from machine learning-based multi-omics analysis.
Hou Y et al.·Hum Genomics
2025
Next-generation sequencing RNA fusion panel for the diagnosis of haematological malignancies.
Ngo TQ et al.·Pathology
2025
Multi‑omics identification of a signature based on malignant cell-associated ligand-receptor genes for lung adenocarcinoma.
Xu S et al.·BMC Cancer
2024
Clinical impact of genomic characterization of 15 patients with acute megakaryoblastic leukemia-related malignancies.
Lalonde E et al.·Cold Spring Harb Mol Case Stud
2021Cohort
The potential markers of endocrine resistance among HR+ /HER2+ breast cancer patients.
Chen K et al.·Clin Transl Oncol
2020Cohort
Increased Risk of Acute Myelogenous Leukemia After Early Onset but Not Late-Onset Colorectal Cancer.
Lehrer S et al.·Am J Clin Oncol
2020
Mutagenic transgene insertion into a region of high gene density and multiple linkage disruptions on mouse chromosome 11.
Kleiter N et al.·Cytogenet Genome Res
2002Functional
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Development of a recurrence-related gene signature and functional role of MLLT6 in ovarian cancer progression and Paclitaxel resistance.
Bao Q et al.·J Ovarian Res
2025Open AccessFunctional
MLLT6/ATF2 Axis Restrains Breast Cancer Progression by Driving DDIT3/4 Expression.
Yu Q et al.·Mol Cancer Res
2024
MLLT6 maintains PD-L1 expression and mediates tumor immune resistance.
Sreevalsan S et al.·EMBO Rep
2020Open Access
The leukemia-associated-protein (LAP) domain, a cysteine-rich motif, is present in a wide range of proteins, including MLL, AF10, and MLLT6 proteins.
Saha V et al.·Proc Natl Acad Sci U S A
1995
Top 5 resultsSearch Europe PMC ↗
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
A rare case of acute megakaryoblastic leukemia with t(11;17)(q23;q21) and KMT2A::MLLT6 fusion.
Qiu L et al.·Ann Hematol
2022
Top 2 full-text resultsSearch PubTator3 ↗
External Resources
Links to major genomics databases and tools