Skip to content
Use your HSA or FSA funds

Gene

CEP57

centrosomal protein 57

Summary

Cytogenetic location
11q21
Coordinates
Chromosome 11: 95,790,498–95,832,693 (GRCh38)
Exons
11 exons across 42.2 kb
Protein
500 amino acids
Inheritance
Autosomal recessive
Also known as
Translokin, TSP57, KIAA0092
MANE Select transcript
ENST00000325542.10NM_014679.5
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

  • Mosaic Variegated Aneuploidy Syndrome

    • Autosomal recessive

      Mosaic gains and losses of whole chromosomes with growth restriction, microcephaly and an increased risk of rhabdomyosarcoma, Wilms tumour and leukaemia.

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

      Childhood cancer surveillance for affected children; carriers have no expected health effects.

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How CEP57 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 11, with a bracket where CEP57 sits. CEP57 and 3 genes near it on chromosome 11, from 95,311,596 to 96,311,595.Chromosome 1111q21p15.5p15.4p15.3p15.2p15.1p14.3p14.2p14.1p13p12p11.2p11.12p11.11q11q12.1q12.2q12.3q13.1q13.2q13.3q13.4q13.5q14.1q14.2q14.3q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q2595.4 Mb95.6 Mb95.8 Mb96 Mb96.2 MbFAM76B: 95,768,953–95,790,409, reverse strandFAM76BCEP57: 95,790,498–95,832,693, forward strandCEP57MTMR2: 95,821,766–95,925,315, reverse strandMTMR2MAML2: 95,976,598–96,343,255, reverse strandMAML2Diagram of CEP57: 11 exons on the forward strand of chromosome 11Exon 1: 1 known disease-causing siteExon 3: 2 known disease-causing sitesExon 4: 1 known disease-causing siteExon 5: 2 known disease-causing sitesExon 7: 1 known disease-causing siteExon 9: 4 known disease-causing sitesExon 11: 1 known disease-causing siteExon 1: 95,790,498–95,790,743, 246 basesExon 2: 95,799,232–95,799,388, 157 basesExon 3: 95,812,932–95,813,111, 180 basesExon 4: 95,813,468–95,813,589, 122 basesExon 5: 95,817,787–95,817,903, 117 basesExon 6: 95,818,827–95,818,904, 78 basesExon 7: 95,821,871–95,821,978, 108 basesExon 8: 95,822,499–95,822,576, 78 basesExon 9: 95,827,786–95,828,027, 242 basesExon 10: 95,829,187–95,829,331, 145 basesExon 11: 95,831,026–95,832,693, 1,668 bases1246810115′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 3.1 kb of the gene's 42.2 kb; 1,503 of those bases code for the protein.

How a genome test reads CEP57

16

positions in CEP57 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 42.2 kb of CEP57, introns included, not only the 3.1 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.). CEP57 gene: centrosomal protein 57. Retrieved 17 October 2026, from https://dantelabs.com/genes/cep57

Vancouver

Dante Labs. CEP57 gene: centrosomal protein 57 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/cep57

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test