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Gene

FGFR1

fibroblast growth factor receptor 1

Summary

Cytogenetic location
8p11.23
Coordinates
Chromosome 8: 38,411,143–38,468,635 (GRCh38)
Exons
18 exons across 57.5 kb
Protein
822 amino acids
Also known as
H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331
Previous symbols
FLT2, KAL2
MANE Select transcript
ENST00000447712.7NM_023110.3
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

  • Hypogonadotropic Hypogonadism

    • Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis.

      • 4 GenCC submitters rate it definitive or strong

  • Syndromic Craniosynostosis

    • Conditions combining early skull suture closure with other features, including Apert, Crouzon, Pfeiffer, Muenke and Saethre-Chotzen syndromes, caused by genes such as FGFR2, FGFR3, FGFR1, TWIST1, TCF12 and ERF.

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

      Early diagnosis allows timely surgery and monitoring of head growth, vision and hearing; milder forms such as Muenke syndrome can go unrecognised in adults, which is relevant to family planning.

How FGFR1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 8, with a bracket where FGFR1 sits. FGFR1 and 14 genes near it on chromosome 8, from 37,939,889 to 38,939,888.Chromosome 88p11.23p23.3p23.2p23.1p22p21.3p21.2p21.1p12p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.3q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.338 Mb38.2 Mb38.4 Mb38.6 Mb38.8 MbGOT1L1: 37,934,281–37,940,162, reverse strandGOT1L1: 37,934,340–37,965,953, reverse strandADRB3: 37,962,990–37,966,614, reverse strandADRB3EIF4EBP1: 38,030,494–38,060,380, forward strandEIF4EBP1ASH2L: 38,105,493–38,144,124, forward strandASH2LSTAR: 38,138,571–38,151,102, reverse strandSTARLSM1: 38,161,436–38,176,730, reverse strandLSM1BAG4: 38,176,533–38,215,427, forward strandBAG4DDHD2: 38,225,218–38,283,357, forward strandDDHD2PLPP5: 38,263,095–38,269,519, reverse strandPLPP5NSD3: 38,269,704–38,383,021, reverse strandNSD3LETM2: 38,386,204–38,409,527, forward strandLETM2FGFR1: 38,411,143–38,468,635, reverse strandFGFR1TACC1: 38,728,157–38,853,028, forward strandTACC1PLEKHA2: 38,901,024–38,973,912, forward strandPLEKHA2Diagram of FGFR1: 18 exons on the reverse strand of chromosome 8Exon 18: 1 known disease-causing siteExon 17: 7 known disease-causing sitesExon 16: 8 known disease-causing sitesExon 15: 11 known disease-causing sitesExon 14: 17 known disease-causing sitesExon 13: 14 known disease-causing sitesExon 12: 7 known disease-causing sitesExon 11: 8 known disease-causing sitesExon 10: 4 known disease-causing sitesExon 9: 5 known disease-causing sitesExon 8: 13 known disease-causing sitesExon 7: 16 known disease-causing sitesExon 6: 9 known disease-causing sitesExon 5: 6 known disease-causing sitesExon 4: 1 known disease-causing siteExon 3: 17 known disease-causing sitesExon 2: 2 known disease-causing sitesExon 18: 38,411,143–38,413,804, 2,662 basesExon 17: 38,413,918–38,414,023, 106 basesExon 16: 38,414,152–38,414,289, 138 basesExon 15: 38,414,559–38,414,629, 71 basesExon 14: 38,414,779–38,414,901, 123 basesExon 13: 38,415,870–38,416,060, 191 basesExon 12: 38,417,306–38,417,416, 111 basesExon 11: 38,417,870–38,417,991, 122 basesExon 10: 38,418,228–38,418,373, 146 basesExon 9: 38,419,533–38,419,735, 203 basesExon 8: 38,421,797–38,421,941, 145 basesExon 7: 38,424,509–38,424,699, 191 basesExon 6: 38,426,122–38,426,245, 124 basesExon 5: 38,427,921–38,428,093, 173 basesExon 4: 38,428,346–38,428,435, 90 basesExon 3: 38,429,682–38,429,948, 267 basesExon 2: 38,457,356–38,457,534, 179 basesExon 1: 38,467,981–38,468,635, 655 bases181510515′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 5.7 kb of the gene's 57.5 kb; 2,469 of those bases code for the protein.

How a genome test reads FGFR1

171

positions in FGFR1 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 57.5 kb of FGFR1, introns included, not only the 5.7 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.). FGFR1 gene: fibroblast growth factor receptor 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/fgfr1

Vancouver

Dante Labs. FGFR1 gene: fibroblast growth factor receptor 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/fgfr1

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