Home > Gene Browser > CEP104
CEP104
- Synonyms
- CFAP256, GlyBP, JBTS25, KIAA0562, ROC22
- External resources
- NCBI9731
- OMIM616690
- EnsemblENSG00000116198
- HGNCHGNC:24866
- Summary
- This gene encodes a centrosomal protein required for ciliogenesis and for ciliary tip structural integrity. The mammalian protein contains three amino-terminal hydrophobic domains, two glycosylation sites, four cysteine-rich motifs, and two regions with homology to the glutamate receptor ionotropic, NMDA 1 protein. During ciliogenesis, the encoded protein translocates from the distal tips of the centrioles to the tip of the elongating cilium. Knockdown of the protein in human retinal pigment cells results in severe defects in ciliogenesis with structural deformities at the ciliary tips. Allelic variants of this gene are associated with the autosomal-recessive disorder Joubert syndrome, which is characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia.
Variant counts
The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.
- Pathogenic
- 236
- Likely pathogenic
- 19
- VUS
- 9,963
- Likely benign
- 16,697
- Benign
- 68
Patient phenotypes
Proportions of phenotypes among 248 patients carrying pathogenic or likely pathogenic variants on CEP104 gene are displayed below.
- Phenotype class
- Patients in 3billion (%)
- Abnormality of the nervous system
- 39.9%
- Abnormality of the musculoskeletal system
- 31.5%
- Abnormality of the eye
- 24.6%
- Abnormality of head or neck
- 22.6%
- Abnormality of the cardiovascular system
- 15.3%
- Abnormality of the genitourinary system
- 14.5%
- Growth abnormality
- 13.3%
- Abnormality of the ear
- 12.5%
- Abnormality of the digestive system
- 12.1%
- Abnormality of limbs
- 10.9%
- Abnormality of the integument
- 10.5%
- Abnormality of the endocrine system
- 7.3%
- Abnormality of the immune system
- 5.2%
- Abnormality of the respiratory system
- 4%
- Neoplasm
- 4%
- Abnormality of blood and blood-forming tissues
- 2.4%
- Abnormality of prenatal development or birth
- 2.4%
- Abnormality of the breast
- 0.4%
- Abnormality of the voice
- 0.4%
- Constitutional symptom
- 0.4%
- Abnormal cellular phenotype
- 0%
- Abnormality of metabolism homeostasis
- 0%
- Abnormality of the thoracic cavity
- 0%
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