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Gene

BCOR

BCL6 corepressor

Summary

Cytogenetic location
Xp11.4
Coordinates
Chromosome X: 40,051,251–40,097,958 (GRCh38)
Exons
15 exons across 46.7 kb
Protein
1,755 amino acids
Also known as
FLJ20285, KIAA1575
MANE Select transcript
ENST00000378444.9NM_001123385.2
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

  • Microphthalmia, Anophthalmia & Coloboma

    • Syndromic Microphthalmia

      Microphthalmia occurring with features outside the eye, caused by changes in genes such as SOX2, OTX2, BCOR, STRA6 and BMP4.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      Actionability

      A genetic diagnosis guides checks for associated features, such as pituitary hormone problems with SOX2 or OTX2, and informs recurrence risk.

How BCOR is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome X, with a bracket where BCOR sits. BCOR and 0 genes near it on chromosome X, from 39,574,605 to 40,574,604.Chromosome XXp11.4p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q2839.6 Mb39.8 Mb40 Mb40.2 Mb40.4 MbBCOR: 40,051,251–40,097,958, reverse strandBCORDiagram of BCOR: 15 exons on the reverse strand of chromosome XExon 15: 1 known disease-causing siteExon 14: 1 known disease-causing siteExon 13: 1 known disease-causing siteExon 12: 1 known disease-causing siteExon 11: 3 known disease-causing sitesExon 10: 2 known disease-causing sitesExon 9: 7 known disease-causing sitesExon 8: 3 known disease-causing sitesExon 7: 9 known disease-causing sitesExon 6: 6 known disease-causing sitesExon 5: 1 known disease-causing siteExon 4: 30 known disease-causing sitesExon 15: 40,051,251–40,052,400, 1,150 basesExon 14: 40,053,886–40,054,042, 157 basesExon 13: 40,054,256–40,054,333, 78 basesExon 12: 40,055,368–40,055,513, 146 basesExon 11: 40,057,155–40,057,321, 167 basesExon 10: 40,062,139–40,062,393, 255 basesExon 9: 40,062,746–40,063,071, 326 basesExon 8: 40,063,608–40,063,952, 345 basesExon 7: 40,064,336–40,064,599, 264 basesExon 6: 40,070,973–40,071,159, 187 basesExon 5: 40,071,637–40,071,690, 54 basesExon 4: 40,072,349–40,075,180, 2,832 basesExon 3: 40,076,454–40,076,532, 79 basesExon 2: 40,077,844–40,077,969, 126 basesExon 1: 40,097,215–40,097,958, 744 bases15141210864215′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 6.9 kb of the gene's 46.7 kb; 5,268 of those bases code for the protein.

Sequencing BCOR

73

positions in BCOR 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 46.7 kb of BCOR, introns included, not only the 6.9 kb of exons.

Genes linked to the same conditions

Traits linked to BCOR

The Human Phenotype Ontology lists these as features of the rare conditions BCOR can cause. Each trait's page lists the other genes linked to it.

External links

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 2026-10-17: 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 2026.10.17-8666dff2.

Cite this page

APA

Dante Labs. (n.d.). BCOR gene: BCL6 corepressor. Retrieved 17 October 2026, from https://dantelabs.com/genes/bcor

Vancouver

Dante Labs. BCOR gene: BCL6 corepressor [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/bcor

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