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: 5913
MIM: 601592
HGNC: 9863
Ensembl: ENSG00000165917
Variants:
dbSNP: 5913
ClinVar: 5913
TCGA: ENSG00000165917
COSMIC: RAPSN
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36815443 | 2023 | The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome. | 0 |
| 37646703 | 2023 | Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature. | 0 |
| 36815443 | 2023 | The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome. | 0 |
| 37646703 | 2023 | Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature. | 0 |
| 33958711 | 2021 | The association between RAPSN methylation in peripheral blood and breast cancer in the Chinese population. | 4 |
| 34033754 | 2021 | Membraneless condensates by Rapsn phase separation as a platform for neuromuscular junction formation. | 8 |
| 33958711 | 2021 | The association between RAPSN methylation in peripheral blood and breast cancer in the Chinese population. | 4 |
| 34033754 | 2021 | Membraneless condensates by Rapsn phase separation as a platform for neuromuscular junction formation. | 8 |
| 31549961 | 2019 | A mechanism in agrin signaling revealed by a prevalent Rapsyn mutation in congenital myasthenic syndrome. | 12 |
| 31549961 | 2019 | A mechanism in agrin signaling revealed by a prevalent Rapsyn mutation in congenital myasthenic syndrome. | 12 |
| 28024842 | 2017 | Congenital myasthenic syndrome in Israel: Genetic and clinical characterization. | 17 |
| 28495245 | 2017 | Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequence. | 8 |
| 28024842 | 2017 | Congenital myasthenic syndrome in Israel: Genetic and clinical characterization. | 17 |
| 28495245 | 2017 | Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequence. | 8 |
| 27577081 | 2016 | DNA methylation array analysis identifies breast cancer associated RPTOR, MGRN1 and RAPSN hypomethylation in peripheral blood DNA. | 18 |
Citation
Dessen P
RAPSN (receptor associated protein of the synapse)
Atlas Genet Cytogenet Oncol Haematol. 2018-02-01
Online version: http://atlasgeneticsoncology.org/gene/57297/rapsn-(receptor-associated-protein-of-the-synapse)
