MLL Back

myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)

External References:      Wikipedia GeneCards HUGO COSMIC Google Scholar

NCBI Description of MLL

This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.

Community Annotation of MLL Add / Edit MLL: Annotations

No community annotations yet for MLL.
Sort mutations by: Tumor type  Mutation type  Position  
Straightedge cursor Expand

Figure notes

• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


MLL is highly significantly mutated in
12 patients (1%)
MLL is significantly mutated in
MLL is near significance in
13 patients (13%)
combined cohort
126 patients (2%)

Click on a tumor type to see its full list of significant genes.

Data details

Mutation list for MLL