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Gene

CFAP53

cilia and flagella associated protein 53

Summary

Cytogenetic location
18q21.1
Coordinates
Chromosome 18: 50,227,193–50,266,495 (GRCh38)
Exons
8 exons across 39.3 kb
Protein
514 amino acids
Also known as
FLJ32743
Previous symbols
CCDC11
MANE Select transcript
ENST00000398545.5NM_145020.5
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

  • Heterotaxy & Laterality Defects

    • Visceral Heterotaxy

      Abnormal left-right arrangement of the internal organs, caused by changes in genes such as ZIC3 (X-linked), NODAL, CFC1, MMP21 and PKD1L1, often with complex heart defects and spleen abnormalities.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Knowing about it supports heart and abdominal imaging, infection precautions if the spleen is absent, and reproductive counselling.

How CFAP53 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 18, with a bracket where CFAP53 sits. CFAP53 and 7 genes near it on chromosome 18, from 49,746,844 to 50,746,843.Chromosome 1818q21.1p11.32p11.31p11.23p11.22p11.21p11.1q11.1q11.2q12.1q12.2q12.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q2349.8 Mb50 Mb50.2 Mb50.4 Mb50.6 MbACAA2: 49,781,714–49,813,965, reverse strandACAA2: 49,795,793–49,837,623, reverse strandMYO5B: 49,822,789–50,195,208, reverse strandMYO5BCFAP53: 50,227,193–50,266,495, reverse strandCFAP53MBD1: 50,266,743–50,281,846, reverse strandMBD1CXXC1: 50,282,331–50,287,862, reverse strandCXXC1SKA1: 50,374,996–50,394,176, forward strandSKA1MAPK4: 50,559,451–50,731,830, forward strandMAPK4Diagram of CFAP53: 8 exons on the reverse strand of chromosome 18Exon 6: 2 known disease-causing sitesExon 5: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 2: 1 known disease-causing siteExon 8: 50,227,193–50,227,609, 417 basesExon 7: 50,238,603–50,238,705, 103 basesExon 6: 50,242,900–50,243,116, 217 basesExon 5: 50,250,758–50,250,976, 219 basesExon 4: 50,251,481–50,251,784, 304 basesExon 3: 50,261,064–50,261,237, 174 basesExon 2: 50,261,990–50,262,219, 230 basesExon 1: 50,266,336–50,266,495, 160 bases876543215′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 1.8 kb of the gene's 39.3 kb; 1,545 of those bases code for the protein.

How a genome test reads CFAP53

9

positions in CFAP53 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 39.3 kb of CFAP53, introns included, not only the 1.8 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.). CFAP53 gene: cilia and flagella associated protein 53. Retrieved 16 October 2026, from https://dantelabs.com/genes/cfap53

Vancouver

Dante Labs. CFAP53 gene: cilia and flagella associated protein 53 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/cfap53

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