Basic information
- Full name
- cystinosin, lysosomal cystine transporter
- Ensembl
- ENSG00000040531.16
- Summary
- This gene encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]
Protein product
- ENST00000046640.9 Primary ENSP00000046640.4 (0 phosphosite)
- ENST00000673965.1
- ENST00000381870.8
- ENST00000673669.1
- ENST00000399306.7
- ENST00000488623.6
Phosphosites on the primary protein product
Tumor and normal comparison
Signed p-values | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
Data type | Meta P | BRCA | CCRCC | COAD | GBM | HNSCC | LSCC | LUAD | OV | PDAC | UCEC |
RNA | -1.3e-12 | - | -5.2e-27 | - | - | 9.3e-10 | -1.5e-8 | -0.8 | - | -1e-7 | - |
protein | - | - | - | - | - | - | - | - | - | - | - |
mRNA expression at gene level
Protein expression
Phenotype and mutation association
Manhattan plot summarizing associations of phenotypes and mutations across all cohorts and omics data types
Associations of the protein abundance of CTNS with phenotypes and mutations
Signed p-values | ||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Phenotype | Meta P | BRCA | CCRCC | COAD | GBM | HNSCC | LSCC | LUAD | OV | PDAC | UCEC | |
xcell: Eosinophil | - | - | - | - | - | - | - | - | - | - | - | |
xcell: Cancer associated fibroblast | - | - | - | - | - | - | - | - | - | - | - | |
xcell: Granulocyte-monocyte progenitor | - | - | - | - | - | - | - | - | - | - | - | |
xcell: Hematopoietic stem cell | - | - | - | - | - | - | - | - | - | - | - | |
xcell: Macrophage | - | - | - | - | - | - | - | - | - | - | - | |
xcell: Macrophage M1 | - | - | - | - | - | - | - | - | - | - | - | |
xcell: Macrophage M2 | - | - | - | - | - | - | - | - | - | - | - | |
xcell: Mast cell | - | - | - | - | - | - | - | - | - | - | - | |
xcell: B cell memory | - | - | - | - | - | - | - | - | - | - | - | |
xcell: Monocyte | - | - | - | - | - | - | - | - | - | - | - |
Cis-association
Associations between omics data of CTNS
Trans-association
Associations of the protein abundance of CTNS and the protein abundance of other genes
Signed p-values | ||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Gene | Meta P | BRCA | CCRCC | COAD | GBM | HNSCC | LSCC | LUAD | OV | PDAC | UCEC | |
No matching records found |
Gene set enrichment analysis
Submit genes and the common logarithm of the p-values of their association with to WebGestalt.