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Gene

BPTF

bromodomain PHD finger transcription factor

Summary

Cytogenetic location
17q24.2
Coordinates
Chromosome 17: 67,825,503–67,984,378 (GRCh38)
Exons
28 exons across 158.9 kb
Protein
2,920 amino acids
Also known as
FAC1, NURF301
Previous symbols
FALZ
MANE Select transcript
ENST00000306378.11NM_182641.4
Locus type
gene with protein product

Reference genomeGRCh38

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

Curated report relevant to this gene

    • Intellectual Disability

      • One of 233 genes linked to it

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

    How BPTF 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 BPTF sits. BPTF and 7 genes near it on chromosome 17, from 67,404,941 to 68,404,940.Chromosome 1717q24.2p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.367.6 Mb67.8 Mb68 Mb68.2 Mb68.4 MbPITPNC1: 67,377,258–67,697,256, forward strandPITPNC1NOL11: 67,717,810–67,744,531, forward strandNOL11BPTF: 67,825,503–67,984,378, forward strandBPTFC17orf58: 67,991,099–67,996,473, reverse strandC17orf58KPNA2: 68,035,517–68,047,364, forward strandKPNA2AMZ2: 68,205,431–68,258,828, forward strandAMZ2ARSG: 68,259,170–68,422,731, forward strandARSGSLC16A6: 68,267,026–68,291,267, reverse strandSLC16A6Diagram of BPTF: 28 exons on the forward strand of chromosome 17Exon 1: 3 known disease-causing sitesExon 2: 3 known disease-causing sitesExon 4: 1 known disease-causing siteExon 9: 1 known disease-causing siteExon 11: 7 known disease-causing sitesExon 13: 1 known disease-causing siteExon 14: 1 known disease-causing siteExon 16: 4 known disease-causing sitesExon 20: 3 known disease-causing sitesExon 21: 3 known disease-causing sitesExon 23: 2 known disease-causing sitesExon 24: 2 known disease-causing sitesExon 25: 1 known disease-causing siteExon 27: 5 known disease-causing sitesExon 1: 67,825,503–67,826,337, 835 basesExon 2: 67,853,940–67,854,762, 823 basesExon 3: 67,866,464–67,866,687, 224 basesExon 4: 67,874,817–67,875,020, 204 basesExon 5: 67,891,844–67,892,034, 191 basesExon 6: 67,893,370–67,893,725, 356 basesExon 7: 67,894,034–67,894,165, 132 basesExon 8: 67,903,789–67,903,918, 130 basesExon 9: 67,904,702–67,904,840, 139 basesExon 10: 67,909,582–67,909,761, 180 basesExon 11: 67,910,877–67,913,187, 2,311 basesExon 12: 67,918,714–67,918,838, 125 basesExon 13: 67,920,015–67,920,143, 129 basesExon 14: 67,922,840–67,922,990, 151 basesExon 15: 67,924,547–67,924,589, 43 basesExon 16: 67,928,355–67,928,601, 247 basesExon 17: 67,929,336–67,929,487, 152 basesExon 18: 67,931,911–67,932,019, 109 basesExon 19: 67,940,439–67,940,656, 218 basesExon 20: 67,944,150–67,944,372, 223 basesExon 21: 67,945,409–67,946,325, 917 basesExon 22: 67,947,726–67,947,808, 83 basesExon 23: 67,948,081–67,948,306, 226 basesExon 24: 67,959,541–67,959,875, 335 basesExon 25: 67,964,212–67,964,404, 193 basesExon 26: 67,966,572–67,966,656, 85 basesExon 27: 67,975,772–67,975,958, 187 basesExon 28: 67,982,252–67,984,378, 2,127 bases1510152025285′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 11.1 kb of the gene's 158.9 kb; 8,763 of those bases code for the protein.

    How a genome test reads BPTF

    39

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

    10 of them (26%) fall in regions short reads find hard.

    • Segmental duplications (10 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 158.9 kb of BPTF, introns included, not only the 11.1 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.). BPTF gene: bromodomain PHD finger transcription factor. Retrieved 16 October 2026, from https://dantelabs.com/genes/bptf

    Vancouver

    Dante Labs. BPTF gene: bromodomain PHD finger transcription factor [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/bptf

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