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: 89970
MIM: 616585
HGNC: 29420
Ensembl: ENSG00000159579
Variants:
dbSNP: 89970
ClinVar: 89970
TCGA: ENSG00000159579
COSMIC: RSPRY1
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38562122 | 2024 | Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia. | 1 |
| 38562122 | 2024 | Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia. | 1 |
| 30063090 | 2018 | Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis. | 2 |
| 30063090 | 2018 | Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis. | 2 |
| 26365341 | 2015 | Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations. | 11 |
| 26365341 | 2015 | Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations. | 11 |
Citation
Dessen P
RSPRY1 (ring finger and SPRY domain containing 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/72915/rspry1-(ring-finger-and-spry-domain-containing-1)
