Basic information

Full name
dihydrolipoamide S-acetyltransferase
Ensembl
ENSG00000150768.16
Summary
This gene encodes component E2 of the multi-enzyme pyruvate dehydrogenase complex (PDC). PDC resides in the inner mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. The protein product of this gene, dihydrolipoamide acetyltransferase, accepts acetyl groups formed by the oxidative decarboxylation of pyruvate and transfers them to coenzyme A. Dihydrolipoamide acetyltransferase is the antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC enventually leads to cirrhosis and liver failure. Mutations in this gene are also a cause of pyruvate dehydrogenase E2 deficiency which causes primary lactic acidosis in infancy and early childhood.[provided by RefSeq, Oct 2009]

Protein product

Phosphosites on the primary protein product
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Tumor and normal comparison

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Signed p-values
Data type
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
RNA-0.17--1.6e-21---4.1e-111e-95.9e-14-2.2e-5-
protein-7.2e-20--2.5e-24-1.5e-4--3.2e-20-5.6e-40.0160.089-0.046-0.2

* P-values are from Wilcoxon rank sum test and can be clicked to show the box plots. Positive values mean higher abundance in tumor. BRCA and GBM do not have normal samples.

mRNA expression at gene level
BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC7.588.599.51010.51111.512log2(RSEM+1)tumornormal
Protein expression
BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC2525.52626.52727.52828.529log2(MS1 intensity)tumornormal

* Mild outlier: filled circle; Extreme outlier: empty circle.

Phenotype and mutation association

Manhattan plot summarizing associations of phenotypes and mutations across all cohorts and omics data types

BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC02468101214160-2-4-6-8-10-12-14-16Pan-cancer024681012141618202224260-2-4-6-8-10-12-14-16-18-20-22-24-26proteinRNASCNVclinicalpathwaycell typegenomicmutation-log10 of P-value

* Data points of significant associations above and below the dotted lines can be hovered to show the phenotype.

Associations of the protein abundance of DLAT with phenotypes and mutations

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Signed p-values
Phenotype
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
Tumor Purity (ABSOLUTE)1.4e-60.940.0077.8e-50.51-0.117.9e-30.390.0120.0860.087
Tumor Purity (WGS)9.2e-5-0.033-0.46-0.015.6e-30.091-0.0171.4e-3
chromosomal instability4.2e-4-0.240.221.0e-40.8-0.0282.9e-36.4e-30.0110.025-0.18
KINASE-PSP_AMPKA1/PRKAA17.4e-4----7.6e-5----2.2e-160.11
HALLMARK_KRAS_SIGNALING_DN8.5e-40.3-0.120.0298.4e-82.2e-60.110.920.29-0.12-0.017
HALLMARK_SPERMATOGENESIS1.2e-30.240.83-0.238.4e-3-0.135.1e-31.1e-30.015-0.550.3
HALLMARK_OXIDATIVE_PHOSPHORYLATION1.5e-30.140.13-0.45-0.28-0.640.171.9e-33.5e-40.580.44
HALLMARK_BILE_ACID_METABOLISM2.2e-30.910.30.0170.420.0290.54-0.710.490.830.043
HALLMARK_HEME_METABOLISM5.8e-30.140.550.660.331.9e-30.52-0.660.320.15-0.6
DISEASE-PSP_Alzheimer's_disease0.012---2.8e-5------0.53
Showing 1 to 10 of 256 rows

* P-values could be from test for Spearman correlation, Wilcoxon rank sum test, Jonckheere-Terpstra trend test or Cox regression depending on the data type. P-values for individual cohorts can be clicked to show the data plots. The matrix icons in each row can be clicked to show a heatmap summary of associations across all cohorts and omics. The rows in the table can be expanded to show results from other omics.

Cis-association

Associations between omics data of DLAT

BRCA0.490.440.52proteinmRNASCNVmethylationCCRCC0.280.030.08-0.060.15-0.03proteinmRNASCNVmethylationCOAD0.400.220.24proteinmRNASCNVmethylationGBM0.15-0.100.18-0.050.34-0.12proteinmRNASCNVmethylationHNSCC0.54-0.060.550.070.76-0.07proteinmRNASCNVmethylationLSCC0.500.170.320.020.62-0.04proteinmRNASCNVmethylationLUAD0.660.090.460.040.540.03proteinmRNASCNVmethylationOV0.720.490.67proteinmRNASCNVmethylationPDAC0.220.100.120.140.320.05proteinmRNASCNVmethylationUCEC0.190.100.220.080.24-0.07proteinmRNASCNVmethylation

* The numbers are Spearman correlation coefficients and can be clicked to show the scatter plots. The color and size of the circles correlate with the coefficients.

Trans-association

Associations of the protein abundance of DLAT and the protein abundance of other genes

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Signed p-values
Gene
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
No matching records found

* P-values are from test for Spearman correlation. P-values for individual cohorts can be clicked to show the data plots. The matrix icons in each row can be clicked to show a heatmap summary of associations across all cohorts and omics. The rows in the table can be expanded to show results from other omics.

Gene set enrichment analysis

Submit genes and the common logarithm of the p-values of their association with to WebGestalt.