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Gene

CEP120

centrosomal protein 120

Summary

Cytogenetic location
5q23.2
Coordinates
Chromosome 5: 123,344,892–123,423,403 (GRCh38)
Exons
20 exons across 78.5 kb
Protein
986 amino acids
Also known as
FLJ36090
Previous symbols
CCDC100
MANE Select transcript
ENST00000306467.10NM_001375405.1
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

  • 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.

      • 1 GenCC submitter rates it definitive or strong

How CEP120 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 CEP120 sits. CEP120 and 4 genes near it on chromosome 5, from 122,884,148 to 123,884,147.Chromosome 55q23.2p15.33p15.32p15.31p15.2p15.1p14.3p14.2p14.1p13.3p13.2p13.1p12p11q11.1q11.2q12.1q12.2q12.3q13.1q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q31.1q31.2q31.3q32q33.1q33.2q33.3q34q35.1q35.2q35.3123 Mb123.2 Mb123.4 Mb123.6 Mb123.8 MbSNX24: 122,843,439–123,030,349, forward strandSNX24PPIC: 123,022,052–123,036,727, reverse strandPPICPRDM6: 123,089,224–123,194,266, forward strandPRDM6CEP120: 123,344,892–123,423,403, reverse strandCEP120CSNK1G3: 123,512,067–123,618,709, forward strandCSNK1G3Diagram of CEP120: 20 exons on the reverse strand of chromosome 5Exon 20: 1 known disease-causing siteExon 18: 1 known disease-causing siteExon 17: 2 known disease-causing sitesExon 16: 2 known disease-causing sitesExon 15: 1 known disease-causing siteExon 14: 2 known disease-causing sitesExon 12: 1 known disease-causing siteExon 11: 2 known disease-causing sitesExon 10: 1 known disease-causing siteExon 9: 1 known disease-causing siteExon 8: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 6: 2 known disease-causing sitesExon 5: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 2: 1 known disease-causing siteExon 20: 123,344,892–123,346,753, 1,862 basesExon 19: 123,349,944–123,350,089, 146 basesExon 18: 123,364,496–123,364,594, 99 basesExon 17: 123,372,650–123,372,772, 123 basesExon 16: 123,377,374–123,377,535, 162 basesExon 15: 123,378,336–123,378,428, 93 basesExon 14: 123,382,111–123,382,200, 90 basesExon 13: 123,382,737–123,382,889, 153 basesExon 12: 123,382,986–123,383,082, 97 basesExon 11: 123,384,951–123,385,133, 183 basesExon 10: 123,386,518–123,386,667, 150 basesExon 9: 123,388,432–123,388,606, 175 basesExon 8: 123,389,924–123,390,140, 217 basesExon 7: 123,391,110–123,391,337, 228 basesExon 6: 123,393,300–123,393,497, 198 basesExon 5: 123,399,136–123,399,284, 149 basesExon 4: 123,412,399–123,412,540, 142 basesExon 3: 123,416,010–123,416,124, 115 basesExon 2: 123,418,359–123,418,515, 157 basesExon 1: 123,422,950–123,423,403, 454 bases201510515′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 kb of the gene's 78.5 kb; 2,961 of those bases code for the protein.

How a genome test reads CEP120

29

positions in CEP120 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 78.5 kb of CEP120, introns included, not only the 5 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.). CEP120 gene: centrosomal protein 120. Retrieved 16 October 2026, from https://dantelabs.com/genes/cep120

Vancouver

Dante Labs. CEP120 gene: centrosomal protein 120 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/cep120

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