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: 124093
MIM: 614666
HGNC: 14153
Ensembl: ENSG00000162004
Variants:
dbSNP: 124093
ClinVar: 124093
TCGA: ENSG00000162004
COSMIC: CCDC78
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000162004 | ENST00000293889 | A2IDD5 |
| ENSG00000162004 | ENST00000345165 | H3BLT8 |
| ENSG00000162004 | ENST00000423653 | I3L158 |
| ENSG00000162004 | ENST00000650995 | A0A494C131 |
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38732148 | 2024 | The Influence of a Genetic Variant in CCDC78 on LMNA-Associated Skeletal Muscle Disease. | 0 |
| 38732148 | 2024 | The Influence of a Genetic Variant in CCDC78 on LMNA-Associated Skeletal Muscle Disease. | 0 |
| 22818856 | 2012 | Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores. | 32 |
| 22818856 | 2012 | Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores. | 32 |
| 20237496 | 2010 | New genetic associations detected in a host response study to hepatitis B vaccine. | 37 |
| 20237496 | 2010 | New genetic associations detected in a host response study to hepatitis B vaccine. | 37 |
Citation
Dessen P
CCDC78 (coiled-coil domain containing 78)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/61566/ccdc78-(coiled-coil-domain-containing-78)
