Basic information
- Full name
- DNA polymerase gamma, catalytic subunit
- Ensembl
- ENSG00000140521.15
- Summary
- Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase. The encoded protein contains a polyglutamine tract near its N-terminus that may be polymorphic. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS), and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Protein product
- ENST00000442287.6 Primary ENSP00000399851.2 (1 phosphosite)
- ENST00000268124.10
- ENST00000650303.1
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 | 1.2e-11 | - | 6e-27 | - | - | 0.031 | 8.3e-4 | -4.8e-3 | - | 0.085 | - |
protein | -2.1e-12 | - | -2.8e-3 | -0.57 | - | -0.066 | -0.23 | -2.0e-4 | -3.6e-3 | -2.8e-6 | -0.05 |
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 POLG with phenotypes and mutations
Signed p-values | ||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Phenotype | Meta P | BRCA | CCRCC | COAD | GBM | HNSCC | LSCC | LUAD | OV | PDAC | UCEC | |
xcell: T cell CD4+ Th1 | 2.0e-5 | 0.045 | 0.079 | 0.017 | - | 0.73 | 3.6e-4 | 0.17 | -0.8 | 0.18 | 0.78 | |
Tumor Purity (ABSOLUTE) | 2.3e-5 | 0.54 | 1.7e-3 | 0.36 | - | 0.35 | 5.5e-5 | -0.77 | 0.046 | -0.6 | 0.056 | |
HALLMARK_MYC_TARGETS_V2 | 6.7e-5 | 0.052 | -0.9 | 0.048 | - | 0.89 | 1.8e-5 | 0.044 | 0.65 | 0.46 | 0.61 | |
HALLMARK_SPERMATOGENESIS | 4.9e-4 | 0.23 | -0.67 | -0.34 | - | 0.03 | 6.6e-4 | 0.28 | 0.34 | 0.062 | 0.25 | |
chromosomal instability | 8.0e-4 | -0.67 | 0.33 | 0.067 | - | 0.31 | 6.3e-6 | 0.64 | 0.092 | -0.64 | 0.64 | |
HALLMARK_DNA_REPAIR | 1.4e-3 | 0.045 | 0.41 | -0.95 | - | 0.86 | 1.3e-4 | 0.55 | 0.19 | 0.62 | 0.67 | |
Tumor Purity (WGS) | 0.002 | - | 3.2e-3 | - | - | 0.26 | 2.9e-5 | -0.75 | - | -0.12 | 0.24 | |
PBRM1 mutation | 2.1e-3 | - | 2.1e-3 | - | - | - | - | - | - | - | - | |
HALLMARK_OXIDATIVE_PHOSPHORYLATION | 4.7e-3 | 0.013 | 0.33 | -0.14 | - | -0.83 | 2.3e-3 | 0.058 | 0.64 | 0.13 | -0.84 | |
HALLMARK_REACTIVE_OXYGEN_SPECIES_PATHWAY | 0.012 | 0.018 | 0.84 | -0.23 | - | -0.85 | 0.3 | 3.4e-3 | 0.29 | 0.023 | -0.33 |
Cis-association
Associations between omics data of POLG
Trans-association
Associations of the protein abundance of POLG 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.