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Gene

BFSP1

beaded filament structural protein 1

Summary

Cytogenetic location
20p12.1
Coordinates
Chromosome 20: 17,493,905–17,531,379 (GRCh38)
Exons
8 exons across 37.5 kb
Protein
665 amino acids
Also known as
CP94, CP115, LIFL-H, filensin
MANE Select transcript
ENST00000377873.8NM_001195.5
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

  • Hereditary Congenital & Juvenile Cataract

    • Early-Onset Non-Syndromic Cataract

      Cataract that appears at birth or early in life without other features, caused by changes in lens genes such as the crystallins (CRYAA, CRYBB2, CRYGD and others), GJA3, GJA8 and MIP.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Early detection and surgery in children help prevent permanent vision loss from amblyopia, and family members can be offered eye checks.

How BFSP1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 20, with a bracket where BFSP1 sits. BFSP1 and 7 genes near it on chromosome 20, from 17,012,642 to 18,012,641.Chromosome 2020p12.1p13p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12q13.11q13.12q13.13q13.2q13.31q13.32q13.3317.2 Mb17.4 Mb17.6 Mb17.8 Mb18 MbPCSK2: 17,226,107–17,484,578, forward strandPCSK2BFSP1: 17,493,905–17,531,379, reverse strandBFSP1DSTN: 17,569,152–17,609,919, forward strandDSTNRRBP1: 17,613,678–17,682,295, reverse strandRRBP1BANF2: 17,693,672–17,735,873, forward strandBANF2SNX5: 17,941,597–17,969,022, reverse strandSNX5OVOL2: 17,956,979–18,059,188, reverse strandOVOL2MGME1: 17,968,093–17,991,136, forward strandMGME1Diagram of BFSP1: 8 exons on the reverse strand of chromosome 20Exon 6: 2 known disease-causing sitesExon 1: 1 known disease-causing siteExon 8: 17,493,905–17,495,029, 1,125 basesExon 7: 17,496,938–17,497,023, 86 basesExon 6: 17,498,820–17,499,040, 221 basesExon 5: 17,508,889–17,508,996, 108 basesExon 4: 17,511,976–17,512,068, 93 basesExon 3: 17,514,721–17,514,816, 96 basesExon 2: 17,524,848–17,524,908, 61 basesExon 1: 17,530,953–17,531,379, 427 bases876543215′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 2.2 kb of the gene's 37.5 kb; 1,998 of those bases code for the protein.

How a genome test reads BFSP1

3

positions in BFSP1 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 37.5 kb of BFSP1, introns included, not only the 2.2 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.). BFSP1 gene: beaded filament structural protein 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/bfsp1

Vancouver

Dante Labs. BFSP1 gene: beaded filament structural protein 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/bfsp1

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