Basic information
- Full name
- sepiapterin reductase
- Ensembl
- ENSG00000116096.6
- Summary
- This gene encodes an aldo-keto reductase that catalyzes the NADPH-dependent reduction of pteridine derivatives and is important in the biosynthesis of tetrahydrobiopterin (BH4). Mutations in this gene result in DOPA-responsive dystonia due to sepiaterin reductase deficiency. A pseudogene has been identified on chromosome 1. [provided by RefSeq, Jul 2008]
Protein product
- ENST00000234454.6 Primary ENSP00000234454.5 (4 phosphosites)
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 | 1.6e-6 | - | -7.3e-13 | - | - | 0.015 | 1.5e-9 | 1.2e-22 | - | -0.72 | - |
protein | -8.4e-8 | - | -5.8e-14 | -0.032 | - | -6.5e-5 | -2.4e-8 | 1.7e-4 | -0.58 | -5.7e-3 | 2.8e-4 |
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 SPR with phenotypes and mutations
Signed p-values | ||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Phenotype | Meta P | BRCA | CCRCC | COAD | GBM | HNSCC | LSCC | LUAD | OV | PDAC | UCEC | |
HALLMARK_BILE_ACID_METABOLISM | 4.7e-19 | 1.8e-4 | 0.017 | 0.1 | 9.8e-6 | 0.016 | 0.96 | 7.7e-6 | 0.034 | 4.6e-6 | 0.018 | |
HALLMARK_PEROXISOME | 1.1e-18 | 3.4e-5 | 4.8e-3 | 0.026 | 0.11 | 3.6e-3 | 0.075 | 6.8e-4 | 8.9e-3 | 1.4e-5 | 0.039 | |
HALLMARK_FATTY_ACID_METABOLISM | 2e-11 | 0.075 | 0.077 | -0.024 | 0.12 | 1.7e-5 | 1.3e-4 | 1.3e-3 | 0.36 | 4.1e-3 | 1.3e-3 | |
HALLMARK_ESTROGEN_RESPONSE_EARLY | 6.6e-10 | 2.2e-16 | 0.49 | 0.083 | 6.6e-4 | 0.25 | 0.65 | 0.53 | 0.41 | 0.084 | 0.48 | |
chromosomal instability | 9.1e-9 | -0.019 | 1.9e-3 | 5.8e-5 | 0.89 | 3.3e-6 | 2.1e-5 | -0.44 | 1.8e-3 | 0.47 | 0.2 | |
PERT-P100-DIA_STAUROSPORINE | 1.6e-7 | 2.3e-3 | - | - | 0.026 | 0.37 | 0.25 | 1.2e-3 | - | 0.033 | 0.25 | |
KINASE-PSP_AMPKA1/PRKAA1 | 6.6e-7 | - | - | - | 7.3e-3 | - | - | - | - | 1.9e-4 | 0.028 | |
HALLMARK_ESTROGEN_RESPONSE_LATE | 7.1e-7 | 5.7e-10 | 0.19 | -0.49 | 0.021 | 9.7e-3 | 0.19 | -0.17 | 0.099 | 0.056 | 0.64 | |
HALLMARK_XENOBIOTIC_METABOLISM | 1.2e-6 | 0.36 | 0.023 | -0.062 | 0.015 | 0.019 | 0.026 | 4.2e-3 | -0.99 | 3.9e-3 | 0.2 | |
PROGENy: Estrogen | 1.5e-6 | 2.2e-16 | 0.34 | -0.43 | 0.65 | 0.06 | 1.1e-4 | -0.002 | -0.56 | 0.02 | 0.044 |
Cis-association
Associations between omics data of SPR
Trans-association
Associations of the protein abundance of SPR 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.