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Gene

CPLANE1

ciliogenesis and planar polarity effector complex subunit 1

Summary

Cytogenetic location
5p13.2
Coordinates
Chromosome 5: 37,106,235–37,249,376 (GRCh38)
Exons
53 exons across 143.1 kb
Protein
3,251 amino acids
Also known as
FLJ13231, JBTS17, Hug
Previous symbols
C5orf42
MANE Select transcript
ENST00000651892.2NM_001384732.1
Locus type
gene with protein product

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report 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.

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

How CPLANE1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 5, with a bracket where CPLANE1 sits. CPLANE1 and 4 genes near it on chromosome 5, from 36,677,806 to 37,677,805.Chromosome 55p13.2p15.33p15.32p15.31p15.2p15.1p14.3p14.2p14.1p13.3p13.2p13.1p12p11q11.1q11.2q12.1q12.2q12.3q13.1q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q31.1q31.2q31.3q32q33.1q33.2q33.3q34q35.1q35.2q35.336.8 Mb37 Mb37.2 Mb37.4 Mb37.6 MbSLC1A3: 36,596,584–36,688,335, forward strandSLC1A3NIPBL: 36,876,716–37,066,422, forward strandNIPBLCPLANE1: 37,106,235–37,249,376, reverse strandCPLANE1NUP155: 37,288,042–37,371,187, reverse strandNUP155WDR70: 37,379,244–37,753,534, forward strandWDR70Diagram of CPLANE1: 53 exons on the reverse strand of chromosome 5Exon 52: 1 known disease-causing siteExon 51: 1 known disease-causing siteExon 50: 2 known disease-causing sitesExon 49: 3 known disease-causing sitesExon 48: 1 known disease-causing siteExon 47: 6 known disease-causing sitesExon 46: 1 known disease-causing siteExon 43: 3 known disease-causing sitesExon 42: 6 known disease-causing sitesExon 40: 1 known disease-causing siteExon 39: 1 known disease-causing siteExon 38: 1 known disease-causing siteExon 36: 3 known disease-causing sitesExon 35: 5 known disease-causing sitesExon 34: 7 known disease-causing sitesExon 33: 5 known disease-causing sitesExon 32: 1 known disease-causing siteExon 30: 1 known disease-causing siteExon 29: 1 known disease-causing siteExon 28: 5 known disease-causing sitesExon 27: 1 known disease-causing siteExon 26: 14 known disease-causing sitesExon 25: 4 known disease-causing sitesExon 24: 1 known disease-causing siteExon 23: 5 known disease-causing sitesExon 22: 4 known disease-causing sitesExon 21: 1 known disease-causing siteExon 20: 5 known disease-causing sitesExon 19: 3 known disease-causing sitesExon 18: 1 known disease-causing siteExon 17: 12 known disease-causing sitesExon 16: 3 known disease-causing sitesExon 15: 5 known disease-causing sitesExon 14: 2 known disease-causing sitesExon 13: 7 known disease-causing sitesExon 12: 10 known disease-causing sitesExon 11: 3 known disease-causing sitesExon 10: 1 known disease-causing siteExon 9: 1 known disease-causing siteExon 8: 1 known disease-causing siteExon 7: 2 known disease-causing sitesExon 6: 1 known disease-causing siteExon 5: 4 known disease-causing sitesExon 4: 1 known disease-causing siteExon 3: 1 known disease-causing siteExon 53: 37,106,235–37,107,778, 1,544 basesExon 52: 37,108,293–37,108,471, 179 basesExon 51: 37,114,960–37,115,049, 90 basesExon 50: 37,120,216–37,120,340, 125 basesExon 49: 37,121,617–37,121,784, 168 basesExon 48: 37,122,430–37,122,488, 59 basesExon 47: 37,125,244–37,125,409, 166 basesExon 46: 37,138,720–37,138,848, 129 basesExon 45: 37,139,340–37,139,370, 31 basesExon 44: 37,142,310–37,142,480, 171 basesExon 43: 37,148,181–37,148,268, 88 basesExon 42: 37,153,740–37,153,993, 254 basesExon 41: 37,157,313–37,157,420, 108 basesExon 40: 37,157,670–37,157,868, 199 basesExon 39: 37,158,224–37,158,345, 122 basesExon 38: 37,162,465–37,162,566, 102 basesExon 37: 37,164,273–37,164,327, 55 basesExon 36: 37,165,539–37,165,671, 133 basesExon 35: 37,167,047–37,167,213, 167 basesExon 34: 37,168,791–37,169,561, 771 basesExon 33: 37,170,041–37,170,331, 291 basesExon 32: 37,173,755–37,173,947, 193 basesExon 31: 37,175,909–37,175,986, 78 basesExon 30: 37,177,621–37,177,700, 80 basesExon 29: 37,179,361–37,179,443, 83 basesExon 28: 37,180,017–37,180,183, 167 basesExon 27: 37,180,857–37,181,005, 149 basesExon 26: 37,182,760–37,183,699, 940 basesExon 25: 37,184,788–37,185,079, 292 basesExon 24: 37,186,286–37,186,394, 109 basesExon 23: 37,187,414–37,187,572, 159 basesExon 22: 37,187,733–37,187,842, 110 basesExon 21: 37,195,858–37,195,996, 139 basesExon 20: 37,198,702–37,198,866, 165 basesExon 19: 37,201,591–37,201,808, 218 basesExon 18: 37,205,315–37,205,454, 140 basesExon 17: 37,206,197–37,206,425, 229 basesExon 16: 37,213,559–37,213,732, 174 basesExon 15: 37,221,324–37,221,488, 165 basesExon 14: 37,224,253–37,224,333, 81 basesExon 13: 37,224,532–37,224,740, 209 basesExon 12: 37,226,304–37,227,073, 770 basesExon 11: 37,227,243–37,227,392, 150 basesExon 10: 37,227,568–37,227,817, 250 basesExon 9: 37,230,867–37,231,049, 183 basesExon 8: 37,238,857–37,238,960, 104 basesExon 7: 37,239,713–37,239,869, 157 basesExon 6: 37,243,013–37,243,119, 107 basesExon 5: 37,244,375–37,244,607, 233 basesExon 4: 37,245,479–37,245,598, 120 basesExon 3: 37,245,710–37,245,845, 136 basesExon 2: 37,247,618–37,247,745, 128 basesExon 1: 37,249,245–37,249,376, 132 bases53504540353025201510515′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 11.3 kb of the gene's 143.1 kb; 9,756 of those bases code for the protein.

How a genome test reads CPLANE1

177

positions in CPLANE1 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 143.1 kb of CPLANE1, introns included, not only the 11.3 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.). CPLANE1 gene: ciliogenesis and planar polarity effector complex subunit 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/cplane1

Vancouver

Dante Labs. CPLANE1 gene: ciliogenesis and planar polarity effector complex subunit 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/cplane1

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