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Gene

FERMT1

FERM domain containing kindlin 1

Summary

Cytogenetic location
20p12.3
Coordinates
Chromosome 20: 6,074,845–6,123,030 (GRCh38)
Exons
15 exons across 48.2 kb
Protein
677 amino acids
Also known as
FLJ20116, URP1, KIND1, UNC112A
Previous symbols
C20orf42
MANE Select transcript
ENST00000217289.9NM_017671.5
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 report relevant to this gene

  • Epidermolysis Bullosa

    • Inherited epidermolysis bullosa

      All inherited forms of skin fragility with blistering, including simplex, junctional and dystrophic epidermolysis bullosa and Kindler syndrome.

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

      Recessive dystrophic forms need regular skin cancer surveillance, and gene-based wound therapy is now available for dystrophic EB.

How FERMT1 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 FERMT1 sits. FERMT1 and 8 genes near it on chromosome 20, from 5,598,938 to 6,598,937.Chromosome 2020p12.3p13p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12q13.11q13.12q13.13q13.2q13.31q13.32q13.335.6 Mb5.8 Mb6 Mb6.2 Mb6.4 MbGPCPD1: 5,544,404–5,611,058, reverse strandGPCPD1SHLD1: 5,750,334–5,865,795, forward strandSHLD1CHGB: 5,911,389–5,925,940, forward strandCHGBTRMT6: 5,936,920–5,950,566, reverse strandTRMT6MCM8: 5,949,767–5,998,977, forward strandMCM8: 5,950,949–6,039,856, forward strandCRLS1: 6,005,982–6,046,815, forward strandCRLS1LRRN4: 6,036,480–6,060,313, reverse strandLRRN4FERMT1: 6,074,845–6,123,030, reverse strandFERMT1Diagram of FERMT1: 15 exons on the reverse strand of chromosome 20Exon 15: 1 known disease-causing siteExon 14: 1 known disease-causing siteExon 13: 1 known disease-causing siteExon 12: 2 known disease-causing sitesExon 10: 1 known disease-causing siteExon 8: 1 known disease-causing siteExon 7: 3 known disease-causing sitesExon 6: 2 known disease-causing sitesExon 5: 1 known disease-causing siteExon 3: 4 known disease-causing sitesExon 2: 1 known disease-causing siteExon 15: 6,074,845–6,077,346, 2,502 basesExon 14: 6,079,436–6,079,577, 142 basesExon 13: 6,084,040–6,084,164, 125 basesExon 12: 6,085,066–6,085,287, 222 basesExon 11: 6,087,777–6,087,883, 107 basesExon 10: 6,088,965–6,089,089, 125 basesExon 9: 6,094,939–6,094,988, 50 basesExon 8: 6,096,902–6,097,033, 132 basesExon 7: 6,097,524–6,097,631, 108 basesExon 6: 6,107,532–6,107,634, 103 basesExon 5: 6,110,298–6,110,511, 214 basesExon 4: 6,112,477–6,112,623, 147 basesExon 3: 6,115,811–6,116,044, 234 basesExon 2: 6,119,404–6,119,572, 169 basesExon 1: 6,122,774–6,123,030, 257 bases15141210864215′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 4.6 kb of the gene's 48.2 kb; 2,034 of those bases code for the protein.

How a genome test reads FERMT1

23

positions in FERMT1 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 48.2 kb of FERMT1, introns included, not only the 4.6 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.). FERMT1 gene: FERM domain containing kindlin 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/fermt1

Vancouver

Dante Labs. FERMT1 gene: FERM domain containing kindlin 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/fermt1

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