Gene
DOT1L
DOT1 like histone lysine methyltransferase
- HGNC 24948(opens in a new tab)
- Ensembl gene ENSG00000104885(opens in a new tab)
- NCBI Gene 84444(opens in a new tab)
Summary
- Cytogenetic location
- 19p13.3
- Coordinates
- Chromosome 19: 2,163,933–2,232,578 (GRCh38)
- Exons
- 28 exons across 68.6 kb
- Protein
- 1,537 amino acids
- Also known as
- KIAA1814, DOT1, KMT4
- MANE Select transcript
- ENST00000398665.8NM_032482.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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How DOT1L is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 7.7 kb of the gene's 68.6 kb; 4,614 of those bases code for the protein.
Traits linked to DOT1L
The Human Phenotype Ontology lists these as features of the rare conditions DOT1L can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Narrowing of the rear opening of the nasal cavity
- Abnormally small head
- Wide nasal bridge
- Big lower jaw
- Broad head shape
- Bulbous nose
- Deep philtrum
- Depressed nasal bridge
Show 19 more traits
- Downturned corners of mouth
- Eye folds
- Full cheeks
- Full lips
- High forehead
- High palate
- Little lower jaw
- Midface retrusion
- Monobrow
- Myopathic facies
- Narrow opening between the eyelids
- Pointed chin
- Prominent forehead
- Receding chin
- Short opening between the eyelids
- Smooth philtrum
- Tented mouth
- Upward slanting of the opening between the eyelids
- Wider-than-typical soft spot of skull
Abnormality of the nervous system
- Absent speech development
- Central sleep apnea
- Clonic seizure
- Delayed ability to crawl
- Delayed ability to sit
- Delayed ability to walk
- Delayed speech and language development
- Falls
Show 14 more traits
- Global developmental delay
- Infantile spasms
- Obstructive sleep apnea
- Persistent head lag
- Typical absence seizure
- Severe global developmental delay
- Focal cortical dysplasia
- Autism
- Brain degeneration
- Cortical dysplasia
- Degeneration of cerebellum
- Enlarged brain
- Mild global developmental delay
- Periventricular heterotopia
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
Cite this page
Dante Labs. (n.d.). DOT1L gene: DOT1 like histone lysine methyltransferase. Retrieved 17 October 2026, from https://dantelabs.com/genes/dot1l
Dante Labs. DOT1L gene: DOT1 like histone lysine methyltransferase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/dot1l
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