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Gene

MYSM1

Myb like, SWIRM and MPN domains 1

Summary

Cytogenetic location
1p32.1
Coordinates
Chromosome 1: 58,654,743–58,700,062 (GRCh38)
Exons
20 exons across 45.3 kb
Protein
828 amino acids
Also known as
KIAA1915
MANE Select transcript
ENST00000472487.6NM_001085487.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Rare Inherited Bone Marrow Failure Syndromes

    • Bone Marrow Failure Syndrome

      A group of rare conditions linked to genes such as DNAJC21, MYSM1 and SRP72, and to combined ADH5 and ALDH2 deficiency (AMED syndrome), causing low blood counts, sometimes with developmental or other features.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      A diagnosis informs the choice of related stem cell donors and transplant preparation, and supports monitoring for myelodysplastic syndrome and leukaemia.

How MYSM1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 1, with a bracket where MYSM1 sits. MYSM1 and 4 genes near it on chromosome 1, from 58,177,403 to 59,177,402.Chromosome 11p32.1p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q4458.2 Mb58.4 Mb58.6 Mb58.8 Mb59 MbDAB1: 56,994,778–58,546,734, reverse strandDAB1OMA1: 58,415,384–58,546,838, reverse strandOMA1TACSTD2: 58,575,433–58,577,252, reverse strandTACSTD2MYSM1: 58,654,743–58,700,062, reverse strandMYSM1JUN: 58,776,845–58,784,048, reverse strandJUNDiagram of MYSM1: 20 exons on the reverse strand of chromosome 1Exon 16: 1 known disease-causing siteExon 11: 1 known disease-causing siteExon 8: 3 known disease-causing sitesExon 7: 1 known disease-causing siteExon 2: 1 known disease-causing siteExon 20: 58,654,743–58,660,155, 5,413 basesExon 19: 58,661,170–58,661,227, 58 basesExon 18: 58,661,406–58,661,511, 106 basesExon 17: 58,665,499–58,665,631, 133 basesExon 16: 58,667,038–58,667,226, 189 basesExon 15: 58,667,847–58,667,921, 75 basesExon 14: 58,668,632–58,668,682, 51 basesExon 13: 58,668,984–58,669,038, 55 basesExon 12: 58,671,870–58,671,958, 89 basesExon 11: 58,673,573–58,673,650, 78 basesExon 10: 58,675,477–58,675,580, 104 basesExon 9: 58,676,926–58,677,056, 131 basesExon 8: 58,681,785–58,682,545, 761 basesExon 7: 58,685,153–58,685,251, 99 basesExon 6: 58,689,038–58,689,116, 79 basesExon 5: 58,690,226–58,690,249, 24 basesExon 4: 58,690,340–58,690,417, 78 basesExon 3: 58,692,861–58,692,931, 71 basesExon 2: 58,695,129–58,695,207, 79 basesExon 1: 58,699,985–58,700,062, 78 bases201816141210864215′3′

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 7.8 kb of the gene's 45.3 kb; 2,487 of those bases code for the protein.

How a genome test reads MYSM1

8

positions in MYSM1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 45.3 kb of MYSM1, introns included, not only the 7.8 kb of exons.

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

APA

Dante Labs. (n.d.). MYSM1 gene: Myb like, SWIRM and MPN domains 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/mysm1

Vancouver

Dante Labs. MYSM1 gene: Myb like, SWIRM and MPN domains 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/mysm1

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