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Gene

FAN1

FANCD2 and FANCI associated nuclease 1

Summary

Cytogenetic location
15q13.3
Coordinates
Chromosome 15: 30,903,915–30,943,108 (GRCh38)
Exons
15 exons across 39.2 kb
Protein
1,017 amino acids
Inheritance
Autosomal recessive
Previous symbols
KIAA1018, MTMR15
MANE Select transcript
ENST00000362065.9NM_014967.5
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 reports relevant to this gene

  • DNA Repair Disease

    • Autosomal recessive

      A disease that has its basis in the disruption of DNA repair.

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

  • Hemolytic Uremic Syndrome, Interstitial Nephritis

    • Interstitial Nephritis

      Inflammation of the renal tubules and supporting tissues of the kidney.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
    • Karyomegalic Interstitial NephritisAutosomal recessive

      Any interstitial nephritis in which the cause of the disease is a mutation in the FAN1 gene.

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

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How FAN1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 15, with a bracket where FAN1 sits. FAN1 and 7 genes near it on chromosome 15, from 30,423,512 to 31,423,511.Chromosome 1515q13.3p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q14q15.1q15.2q15.3q21.1q21.2q21.3q22.1q22.2q22.31q22.32q22.33q23q24.1q24.2q24.3q25.1q25.2q25.3q26.1q26.2q26.330.6 Mb30.8 Mb31 Mb31.2 Mb31.4 MbGOLGA8Q: 30,552,050–30,565,684, forward strandGOLGA8QGOLGA8H: 30,604,028–30,617,752, forward strandGOLGA8HARHGAP11B: 30,624,494–30,649,529, forward strandARHGAP11B: 30,624,548–30,773,002, forward strandFAN1: 30,903,915–30,943,108, forward strandFAN1MTMR10: 30,918,719–30,991,979, reverse strandMTMR10TRPM1: 31,001,065–31,161,160, reverse strandTRPM1KLF13: 31,326,687–31,435,665, forward strandKLF13Diagram of FAN1: 15 exons on the forward strand of chromosome 15Exon 2: 21 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 4: 1 known disease-causing siteExon 5: 2 known disease-causing sitesExon 6: 2 known disease-causing sitesExon 7: 2 known disease-causing sitesExon 8: 5 known disease-causing sitesExon 9: 4 known disease-causing sitesExon 11: 2 known disease-causing sitesExon 12: 2 known disease-causing sitesExon 13: 3 known disease-causing sitesExon 1: 30,903,915–30,904,011, 97 basesExon 2: 30,904,512–30,905,897, 1,386 basesExon 3: 30,908,118–30,908,258, 141 basesExon 4: 30,910,614–30,910,815, 202 basesExon 5: 30,913,858–30,914,091, 234 basesExon 6: 30,918,164–30,918,295, 132 basesExon 7: 30,920,545–30,920,653, 109 basesExon 8: 30,922,235–30,922,354, 120 basesExon 9: 30,925,127–30,925,291, 165 basesExon 10: 30,925,789–30,925,939, 151 basesExon 11: 30,928,553–30,928,656, 104 basesExon 12: 30,929,203–30,929,397, 195 basesExon 13: 30,930,543–30,930,671, 129 basesExon 14: 30,937,119–30,937,259, 141 basesExon 15: 30,941,566–30,943,108, 1,543 bases12468101214155′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 4.8 kb of the gene's 39.2 kb; 3,054 of those bases code for the protein.

How a genome test reads FAN1

50

positions in FAN1 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 39.2 kb of FAN1, introns included, not only the 4.8 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.). FAN1 gene: FANCD2 and FANCI associated nuclease 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/fan1

Vancouver

Dante Labs. FAN1 gene: FANCD2 and FANCI associated nuclease 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/fan1

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