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Gene

TCOF1

treacle ribosome biogenesis factor 1

Summary

Cytogenetic location
5q32-q33.1
Coordinates
Chromosome 5: 150,357,697–150,400,293 (GRCh38)
Exons
27 exons across 42.6 kb
Protein
1,489 amino acids
Also known as
treacle, TCS
MANE Select transcript
ENST00000643257.2NM_001371623.1
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

  • Treacher Collins Syndrome

    • A condition of facial development (mandibulofacial dysostosis) caused by changes in TCOF1, POLR1D, POLR1C or POLR1B, inherited dominantly or, for some genes, recessively; features vary widely, so mildly affected parents are often not recognised.

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

      Knowing about it supports management of hearing and breathing and informs counselling about recurrence in a family.

How TCOF1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 5, with a bracket where TCOF1 sits. TCOF1 and 19 genes near it on chromosome 5, from 149,878,995 to 150,878,994.Chromosome 55q32-q33.1p15.33p15.32p15.31p15.2p15.1p14.3p14.2p14.1p13.3p13.2p13.1p12p11q11.1q11.2q12.1q12.2q12.3q13.1q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q31.1q31.2q31.3q32q33.1q33.2q33.3q34q35.1q35.2q35.3150 Mb150.2 Mb150.4 Mb150.6 Mb150.8 MbPDE6A: 149,857,953–149,945,287, reverse strandPDE6ASLC26A2: 149,960,748–149,993,455, forward strandSLC26A2TIGD6: 149,992,252–150,001,160, reverse strandTIGD6HMGXB3: 150,000,046–150,053,148, forward strandHMGXB3CSF1R: 150,053,291–150,113,372, reverse strandCSF1RPDGFRB: 150,113,839–150,186,363, reverse strandPDGFRBCDX1: 150,166,772–150,186,162, forward strandCDX1SLC6A7: 150,190,041–150,222,788, forward strandSLC6A7CAMK2A: 150,219,491–150,290,324, reverse strandCAMK2AARSI: 150,296,343–150,339,307, reverse strandARSITCOF1: 150,357,697–150,400,293, forward strandTCOF1CD74: 150,401,637–150,412,969, reverse strandCD74RPS14: 150,429,756–150,449,952, reverse strandRPS14NDST1: 150,485,405–150,558,211, forward strandNDST1SYNPO: 150,601,080–150,659,208, forward strandSYNPOMYOZ3: 150,660,450–150,680,022, forward strandMYOZ3RBM22: 150,690,790–150,701,097, reverse strandRBM22DCTN4: 150,706,840–150,759,095, reverse strandDCTN4SMIM3: 150,777,883–150,796,736, forward strandSMIM3IRGM: 150,846,521–150,900,736, forward strandIRGMDiagram of TCOF1: 27 exons on the forward strand of chromosome 5Exon 1: 4 known disease-causing sitesExon 2: 3 known disease-causing sitesExon 3: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 5: 7 known disease-causing sitesExon 6: 4 known disease-causing sitesExon 7: 4 known disease-causing sitesExon 8: 4 known disease-causing sitesExon 9: 9 known disease-causing sitesExon 10: 10 known disease-causing sitesExon 11: 9 known disease-causing sitesExon 12: 3 known disease-causing sitesExon 13: 10 known disease-causing sitesExon 14: 6 known disease-causing sitesExon 15: 6 known disease-causing sitesExon 16: 5 known disease-causing sitesExon 17: 9 known disease-causing sitesExon 18: 3 known disease-causing sitesExon 19: 6 known disease-causing sitesExon 21: 7 known disease-causing sitesExon 23: 7 known disease-causing sitesExon 24: 23 known disease-causing sitesExon 25: 6 known disease-causing sitesExon 1: 150,357,697–150,357,854, 158 basesExon 2: 150,361,156–150,361,211, 56 basesExon 3: 150,364,113–150,364,252, 140 basesExon 4: 150,367,844–150,367,917, 74 basesExon 5: 150,368,716–150,368,902, 187 basesExon 6: 150,369,529–150,369,602, 74 basesExon 7: 150,372,006–150,372,236, 231 basesExon 8: 150,374,174–150,374,386, 213 basesExon 9: 150,374,617–150,374,811, 195 basesExon 10: 150,374,954–150,375,163, 210 basesExon 11: 150,375,339–150,375,554, 216 basesExon 12: 150,375,721–150,375,909, 189 basesExon 13: 150,376,082–150,376,330, 249 basesExon 14: 150,376,423–150,376,620, 198 basesExon 15: 150,378,905–150,379,042, 138 basesExon 16: 150,379,229–150,379,408, 180 basesExon 17: 150,379,532–150,379,732, 201 basesExon 18: 150,387,902–150,388,088, 187 basesExon 19: 150,389,887–150,390,023, 137 basesExon 20: 150,391,544–150,391,657, 114 basesExon 21: 150,391,957–150,392,176, 220 basesExon 22: 150,392,705–150,392,790, 86 basesExon 23: 150,393,372–150,393,552, 181 basesExon 24: 150,396,282–150,396,842, 561 basesExon 25: 150,398,354–150,398,451, 98 basesExon 26: 150,399,022–150,399,070, 49 basesExon 27: 150,399,810–150,400,293, 484 bases1510152025275′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 kb of the gene's 42.6 kb; 4,470 of those bases code for the protein.

How a genome test reads TCOF1

163

positions in TCOF1 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 42.6 kb of TCOF1, introns included, not only the 5 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.). TCOF1 gene: treacle ribosome biogenesis factor 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/tcof1

Vancouver

Dante Labs. TCOF1 gene: treacle ribosome biogenesis factor 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tcof1

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