Identity
HGNC
LOCATION
1p36.32
LOCUSID
ALIAS
CFAP256,GlyBP,JBTS25,KIAA0562,ROC22
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 9731
MIM: 616690
HGNC: 24866
Ensembl: ENSG00000116198
Variants:
dbSNP: 9731
ClinVar: 9731
TCGA: ENSG00000116198
COSMIC: CEP104
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34196201 | 2021 | CEP104 and CEP290; Genes with Ciliary Functions Cause Intellectual Disability in Multiple Families. | 1 |
| 34196201 | 2021 | CEP104 and CEP290; Genes with Ciliary Functions Cause Intellectual Disability in Multiple Families. | 1 |
| 32820051 | 2020 | Roles of TOG and jelly-roll domains of centrosomal protein CEP104 in its functions in cilium elongation and Hedgehog signaling. | 3 |
| 32820051 | 2020 | Roles of TOG and jelly-roll domains of centrosomal protein CEP104 in its functions in cilium elongation and Hedgehog signaling. | 3 |
| 31625690 | 2019 | Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome. | 7 |
| 31625690 | 2019 | Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome. | 7 |
| 27402853 | 2016 | Biophysical and Structural Characterization of the Centriolar Protein Cep104 Interaction Network. | 19 |
| 27402853 | 2016 | Biophysical and Structural Characterization of the Centriolar Protein Cep104 Interaction Network. | 19 |
| 26477546 | 2015 | Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. | 37 |
| 26477546 | 2015 | Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. | 37 |
Citation
Dessen P
CEP104 (centrosomal protein 104)
Atlas Genet Cytogenet Oncol Haematol. 2003-05-01
Online version: http://atlasgeneticsoncology.org/gene/41060/cep104
