Identity
HGNC
LOCATION
9q21.2
LOCUSID
ALIAS
C9orf81,CRDHL,IP63
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: 84131
MIM: 617110
HGNC: 25740
Ensembl: ENSG00000148019
Variants:
dbSNP: 84131
ClinVar: 84131
TCGA: ENSG00000148019
COSMIC: CEP78
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35240912 | 2022 | A novel frameshift variant in CEP78 associated with nonsyndromic retinitis pigmentosa, and a review of CEP78-related phenotypes. | 2 |
| 36206347 | 2022 | Loss-of-function mutations in CEP78 cause male infertility in humans and mice. | 8 |
| 35240912 | 2022 | A novel frameshift variant in CEP78 associated with nonsyndromic retinitis pigmentosa, and a review of CEP78-related phenotypes. | 2 |
| 36206347 | 2022 | Loss-of-function mutations in CEP78 cause male infertility in humans and mice. | 8 |
| 34223797 | 2021 | Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome. | 10 |
| 34259627 | 2021 | CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels. | 20 |
| 34223797 | 2021 | Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome. | 10 |
| 34259627 | 2021 | CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels. | 20 |
| 31999394 | 2020 | Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility. | 11 |
| 33119552 | 2020 | Centrosome Protein 78 Is Overexpressed in Muscle-Invasive Bladder Cancer and Is Associated with Tumor Molecular Subtypes and Mutation Signatures. | 1 |
| 31999394 | 2020 | Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility. | 11 |
| 33119552 | 2020 | Centrosome Protein 78 Is Overexpressed in Muscle-Invasive Bladder Cancer and Is Associated with Tumor Molecular Subtypes and Mutation Signatures. | 1 |
| 30884127 | 2019 | Significance of CEP78 and WDR62 gene expressions in differentiated thyroid carcinoma: Possible predictors of lateral lymph node metastasis. | 2 |
| 30884127 | 2019 | Significance of CEP78 and WDR62 gene expressions in differentiated thyroid carcinoma: Possible predictors of lateral lymph node metastasis. | 2 |
| 27627988 | 2017 | CEP78 is mutated in a distinct type of Usher syndrome. | 24 |
Citation
Dessen P
CEP78 (centrosomal protein 78)
Atlas Genet Cytogenet Oncol Haematol. 2017-04-01
Online version: http://atlasgeneticsoncology.org/gene/56800/cep78-(centrosomal-protein-78)
