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Gene

OFD1

OFD1 centriole and centriolar satellite protein

Summary

Cytogenetic location
Xp22.2
Coordinates
Chromosome X: 13,734,748–13,769,357 (GRCh38)
Exons
23 exons across 34.6 kb
Protein
1,012 amino acids
Also known as
71-7A, JBTS10
Previous symbols
CXorf5, RP23
MANE Select transcript
ENST00000340096.11NM_003611.3
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

  • Joubert Syndrome And Related Disorders

    • Joubert Syndrome

      A ciliopathy defined by a malformation of the cerebellum and brainstem (the molar tooth sign), with low muscle tone, developmental delay and abnormal eye movements, sometimes with kidney, liver or eye involvement.

      • 2 GenCC submitters rate it definitive or strong

Broader groupings

  • Retinitis Pigmentosa

    • One of 77 genes linked to it

      A group of inherited retinal dystrophies with progressive loss of rod and then cone photoreceptors, causing night blindness and gradual loss of peripheral vision.

      • 2 GenCC submitters rate it definitive or strong

How OFD1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome X, with a bracket where OFD1 sits. OFD1 and 7 genes near it on chromosome X, from 13,252,053 to 14,252,052.Chromosome XXp22.2p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q2813.4 Mb13.6 Mb13.8 Mb14 Mb14.2 MbATXN3L: 13,318,647–13,320,053, reverse strandATXN3LEGFL6: 13,569,575–13,633,575, forward strandEGFL6TCEANC: 13,653,078–13,681,964, forward strandTCEANCRAB9A: 13,689,117–13,712,064, forward strandRAB9ATRAPPC2: 13,712,244–13,734,638, reverse strandTRAPPC2OFD1: 13,734,748–13,769,357, forward strandOFD1GPM6B: 13,770,691–13,938,838, reverse strandGPM6BGEMIN8: 13,998,099–14,029,928, reverse strandGEMIN8Diagram of OFD1: 23 exons on the forward strand of chromosome XExon 3: 11 known disease-causing sitesExon 4: 3 known disease-causing sitesExon 5: 3 known disease-causing sitesExon 6: 2 known disease-causing sitesExon 7: 7 known disease-causing sitesExon 8: 6 known disease-causing sitesExon 9: 5 known disease-causing sitesExon 10: 3 known disease-causing sitesExon 11: 4 known disease-causing sitesExon 12: 4 known disease-causing sitesExon 13: 5 known disease-causing sitesExon 14: 1 known disease-causing siteExon 15: 6 known disease-causing sitesExon 16: 9 known disease-causing sitesExon 17: 1 known disease-causing siteExon 18: 2 known disease-causing sitesExon 20: 7 known disease-causing sitesExon 21: 5 known disease-causing sitesExon 1: 13,734,748–13,735,083, 336 basesExon 2: 13,735,248–13,735,346, 99 basesExon 3: 13,736,478–13,736,678, 201 basesExon 4: 13,738,846–13,738,914, 69 basesExon 5: 13,739,002–13,739,032, 31 basesExon 6: 13,744,415–13,744,519, 105 basesExon 7: 13,746,319–13,746,455, 137 basesExon 8: 13,746,780–13,746,953, 174 basesExon 9: 13,749,427–13,749,533, 107 basesExon 10: 13,751,249–13,751,368, 120 basesExon 11: 13,753,368–13,753,441, 74 basesExon 12: 13,755,151–13,755,242, 92 basesExon 13: 13,756,578–13,756,767, 190 basesExon 14: 13,757,660–13,757,790, 131 basesExon 15: 13,758,337–13,758,448, 112 basesExon 16: 13,760,115–13,760,720, 606 basesExon 17: 13,761,085–13,761,211, 127 basesExon 18: 13,762,344–13,762,444, 101 basesExon 19: 13,763,745–13,763,855, 111 basesExon 20: 13,767,127–13,767,284, 158 basesExon 21: 13,768,054–13,768,224, 171 basesExon 22: 13,768,718–13,768,785, 68 basesExon 23: 13,769,066–13,769,357, 292 bases15101520235′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 3.6 kb of the gene's 34.6 kb; 3,039 of those bases code for the protein.

How a genome test reads OFD1

108

positions in OFD1 where ClinVar classes a change as pathogenic or likely pathogenic

5 of them (4.6%) fall in regions short reads find hard.

  • Low mappability (5 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.

A whole genome covers all 34.6 kb of OFD1, introns included, not only the 3.6 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.). OFD1 gene: OFD1 centriole and centriolar satellite protein. Retrieved 17 October 2026, from https://dantelabs.com/genes/ofd1

Vancouver

Dante Labs. OFD1 gene: OFD1 centriole and centriolar satellite protein [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ofd1

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