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Gene

FANCE

FA complementation group E

Summary

Cytogenetic location
6p21.31
Coordinates
Chromosome 6: 35,452,338–35,467,102 (GRCh38)
Exons
10 exons across 14.8 kb
Protein
536 amino acids
Inheritance
Autosomal recessive
Also known as
FAE
Previous symbols
FACE
MANE Select transcript
ENST00000229769.3NM_021922.3
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
      • 5 GenCC submitters rate it definitive or strong

  • Fanconi Anemia

    • Autosomal recessive

      Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

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

      Hematopoietic stem cell transplantation using FA-specific reduced-intensity conditioning; androgens (oxymetholone) as bridge therapy; cancer surveillance for head/neck and gynecological malignancies; gene therapy in clinical trials

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 FANCE is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 6, with a bracket where FANCE sits. FANCE and 17 genes near it on chromosome 6, from 34,959,720 to 35,959,719.Chromosome 66p21.31p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12q13q14.1q14.2q14.3q15q16.1q16.2q16.3q21q22.1q22.2q22.31q22.32q22.33q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q26q2735 Mb35.2 Mb35.4 Mb35.6 Mb35.8 MbANKS1A: 34,889,243–35,091,421, forward strandANKS1ATCP11: 35,118,071–35,148,610, reverse strandTCP11SCUBE3: 35,213,859–35,253,080, forward strandSCUBE3ZNF76: 35,258,909–35,295,985, forward strandZNF76DEF6: 35,297,818–35,321,909, forward strandDEF6PPARD: 35,342,530–35,428,193, forward strandPPARDFANCE: 35,452,338–35,467,102, forward strandFANCERPL10A: 35,468,366–35,470,786, forward strandRPL10ATEAD3: 35,473,597–35,497,868, reverse strandTEAD3TULP1: 35,497,874–35,512,941, reverse strandTULP1FKBP5: 35,572,945–35,728,622, reverse strandFKBP5ARMC12: 35,737,028–35,749,079, forward strandARMC12CLPSL2: 35,776,535–35,779,557, forward strandCLPSL2CLPSL1: 35,781,019–35,793,675, forward strandCLPSL1CLPS: 35,794,982–35,798,251, reverse strandCLPSLHFPL5: 35,797,206–35,845,397, forward strandLHFPL5SRPK1: 35,832,966–35,921,342, reverse strandSRPK1SLC26A8: 35,943,516–36,028,767, reverse strandSLC26A8Diagram of FANCE: 10 exons on the forward strand of chromosome 6Exon 1: 14 known disease-causing sitesExon 2: 24 known disease-causing sitesExon 3: 3 known disease-causing sitesExon 4: 5 known disease-causing sitesExon 5: 5 known disease-causing sitesExon 6: 3 known disease-causing sitesExon 7: 4 known disease-causing sitesExon 8: 2 known disease-causing sitesExon 9: 2 known disease-causing sitesExon 10: 1 known disease-causing siteExon 1: 35,452,338–35,452,793, 456 basesExon 2: 35,455,747–35,456,353, 607 basesExon 3: 35,457,556–35,457,600, 45 basesExon 4: 35,457,916–35,457,984, 69 basesExon 5: 35,458,297–35,458,440, 144 basesExon 6: 35,459,331–35,459,454, 124 basesExon 7: 35,459,682–35,459,760, 79 basesExon 8: 35,460,552–35,460,618, 67 basesExon 9: 35,462,789–35,462,914, 126 basesExon 10: 35,466,244–35,467,102, 859 bases123456789105′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 2.6 kb of the gene's 14.8 kb; 1,611 of those bases code for the protein.

How a genome test reads FANCE

76

positions in FANCE 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 14.8 kb of FANCE, introns included, not only the 2.6 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.). FANCE gene: FA complementation group E. Retrieved 16 October 2026, from https://dantelabs.com/genes/fance

Vancouver

Dante Labs. FANCE gene: FA complementation group E [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/fance

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