Gene
KANSL1
KAT8 regulatory NSL complex subunit 1
- HGNC 24565↗(opens in a new tab)
- Ensembl gene ENSG00000120071↗(opens in a new tab)
- NCBI Gene 284058↗(opens in a new tab)
Summary
- Cytogenetic location
- 17q21.31
- Coordinates
- Chromosome 17: 46,029,916–46,193,429 (GRCh38)
- Exons
- 15 exons across 163.5 kb
- Protein
- 1,105 amino acids
- Also known as
- DKFZP727C091, MSL1v1, CENP-36, NSL1
- Previous symbols
- KIAA1267
- MANE Select transcript
- ENST00000432791.7NM_015443.4
- 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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Intellectual Disability
One of 233 genes linked to it
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
How KANSL1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- 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 5.6 kb of the gene's 163.5 kb; 3,318 of those bases code for the protein.
How a genome test reads KANSL1
78
positions in KANSL1 where ClinVar classes a change as pathogenic or likely pathogenic
7 of them (9%) fall in regions short reads find hard.
- Low mappability (1 site)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
- Segmental duplications (7 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.
A whole genome covers all 163.5 kb of KANSL1, introns included, not only the 5.6 kb of exons.
Genes linked to the same conditions
- ACSL4acyl-CoA synthetase long chain family member 4Shares 1 condition
- ADKadenosine kinaseShares 1 condition
- ADNPactivity dependent neuroprotector homeoboxShares 1 condition
- AFF2ALF transcription elongation factor 2Shares 1 condition
- AHDC1AT-hook DNA binding motif containing 1Shares 1 condition
- ALKBH8alkB homolog 8, tRNA methyltransferaseShares 1 condition
- ANK3ankyrin 3Shares 1 condition
- ANKRD11ankyrin repeat domain 11Shares 1 condition
- AP1S2adaptor related protein complex 1 subunit sigma 2Shares 1 condition
- AP2M1adaptor related protein complex 2 subunit mu 1Shares 1 condition
- ARHGEF9Cdc42 guanine nucleotide exchange factor 9Shares 1 condition
- ARID1AAT-rich interaction domain 1AShares 1 condition
Traits linked to KANSL1
The Human Phenotype Ontology lists these as features of the rare conditions KANSL1 can cause. Each trait's page lists the other genes linked to it.
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.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). KANSL1 gene: KAT8 regulatory NSL complex subunit 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/kansl1
Dante Labs. KANSL1 gene: KAT8 regulatory NSL complex subunit 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/kansl1
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