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Gene

SMARCE1

SWI/SNF related BAF chromatin remodeling complex subunit E1

Summary

Cytogenetic location
17q21.2
Coordinates
Chromosome 17: 40,624,962–40,647,818 (GRCh38)
Exons
11 exons across 22.9 kb
Protein
411 amino acids
Inheritance
Autosomal dominant
Also known as
BAF57
MANE Select transcript
ENST00000348513.12NM_003079.5
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

  • Rhabdoid Tumour and SWI/SNF Tumour Predisposition

    • Familial meningiomaAutosomal dominant

      Inherited predisposition to meningiomas, including clear-cell meningiomas caused by SMARCE1 variants.

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

      Brain and spine imaging may be offered.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How SMARCE1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 17, with a bracket where SMARCE1 sits. SMARCE1 and 41 genes near it on chromosome 17, from 40,136,390 to 41,136,389.Chromosome 1717q21.2p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.340.2 Mb40.4 Mb40.6 Mb40.8 Mb41 MbMSL1: 40,121,637–40,136,935, forward strandMSL1CASC3: 40,140,278–40,177,001, forward strandCASC3RAPGEFL1: 40,177,010–40,195,656, forward strandRAPGEFL1WIPF2: 40,218,743–40,284,136, forward strandWIPF2CDC6: 40,287,831–40,304,657, forward strandCDC6RARA: 40,309,165–40,357,643, forward strandRARAGJD3: 40,360,652–40,364,737, reverse strandGJD3TOP2A: 40,388,521–40,417,941, reverse strandTOP2AIGFBP4: 40,442,913–40,460,822, forward strandIGFBP4TNS4: 40,475,828–40,501,630, reverse strandTNS4CCR7: 40,551,081–40,565,478, reverse strandCCR7SMARCE1: 40,624,962–40,647,818, reverse strandSMARCE1: 40,627,356–40,665,141, reverse strandKRT222: 40,654,665–40,665,181, reverse strandKRT222KRT24: 40,697,991–40,703,758, reverse strandKRT24KRT25: 40,748,021–40,755,331, reverse strandKRT25KRT26: 40,766,238–40,772,201, reverse strandKRT26KRT27: 40,776,808–40,782,550, reverse strandKRT27KRT28: 40,792,196–40,799,959, reverse strandKRT28KRT10: 40,817,784–40,822,614, reverse strandKRT10KRT12: 40,860,943–40,867,223, reverse strandKRT12KRT20: 40,872,785–40,885,249, reverse strandKRT20KRT23: 40,922,696–40,937,646, reverse strandKRT23KRT39: 40,958,392–40,966,948, reverse strandKRT39KRT40: 40,977,715–40,987,135, reverse strandKRT40KRTAP3-3: 40,993,430–40,994,164, reverse strandKRTAP3-3KRTAP3-2: 40,999,193–40,999,906, reverse strandKRTAP3-2KRTAP3-1: 41,008,521–41,019,324, reverse strandKRTAP1-5: 41,026,026–41,027,208, reverse strandKRTAP1-4: 41,029,351–41,030,195, reverse strandKRTAP1-3: 41,033,884–41,034,874, reverse strandKRTAP1-1: 41,040,541–41,041,450, reverse strandKRTAP2-1: 41,046,541–41,047,316, reverse strandKRTAP2-2: 41,054,498–41,055,230, reverse strandKRTAP2-2KRTAP2-3: 41,059,240–41,060,114, reverse strandKRTAP2-4: 41,065,116–41,065,879, reverse strandKRTAP4-7: 41,084,150–41,085,144, forward strandKRTAP4-7KRTAP4-8: 41,096,981–41,098,142, reverse strandKRTAP4-8KRTAP4-16: 41,101,502–41,102,209, reverse strandKRTAP4-9: 41,105,389–41,106,488, forward strandKRTAP4-11: 41,117,181–41,118,373, reverse strandKRTAP4-12: 41,123,091–41,124,182, reverse strandDiagram of SMARCE1: 11 exons on the reverse strand of chromosome 17Exon 10: 2 known disease-causing sitesExon 9: 6 known disease-causing sitesExon 8: 9 known disease-causing sitesExon 7: 8 known disease-causing sitesExon 6: 8 known disease-causing sitesExon 5: 2 known disease-causing sitesExon 4: 3 known disease-causing sitesExon 3: 1 known disease-causing siteExon 11: 40,624,962–40,628,993, 4,032 basesExon 10: 40,630,714–40,630,924, 211 basesExon 9: 40,631,592–40,631,693, 102 basesExon 8: 40,632,195–40,632,367, 173 basesExon 7: 40,635,931–40,636,102, 172 basesExon 6: 40,636,395–40,636,526, 132 basesExon 5: 40,637,492–40,637,572, 81 basesExon 4: 40,642,455–40,642,559, 105 basesExon 3: 40,645,576–40,645,619, 44 basesExon 2: 40,645,796–40,645,847, 52 basesExon 1: 40,647,773–40,647,818, 46 bases1110864215′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 5.2 kb of the gene's 22.9 kb; 1,236 of those bases code for the protein.

How a genome test reads SMARCE1

48

positions in SMARCE1 where ClinVar classes a change as pathogenic or likely pathogenic

1 of them (2.1%) falls in a region short reads find hard.

  • Low mappability (1 site)Regions where 100 bp or 250 bp reads cannot be placed uniquely.

A whole genome covers all 22.9 kb of SMARCE1, introns included, not only the 5.2 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.). SMARCE1 gene: SWI/SNF related BAF chromatin remodeling complex subunit E1. Retrieved 17 October 2026, from https://dantelabs.com/genes/smarce1

Vancouver

Dante Labs. SMARCE1 gene: SWI/SNF related BAF chromatin remodeling complex subunit E1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/smarce1

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