Basic information

Full name
phosphofructokinase, muscle
Ensembl
ENSG00000152556.17
Summary
Three phosphofructokinase isozymes exist in humans: muscle, liver and platelet. These isozymes function as subunits of the mammalian tetramer phosphofructokinase, which catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-bisphosphate. Tetramer composition varies depending on tissue type. This gene encodes the muscle-type isozyme. Mutations in this gene have been associated with glycogen storage disease type VII, also known as Tarui disease. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009]

Protein product

  • ENST00000359794.11 Primary ENSP00000352842.5 (8 phosphosites)
  • ENST00000312352.11
  • ENST00000550345.6
  • ENST00000547587.5
  • ENST00000551339.6
  • ENST00000550924.6
  • ENST00000642730.1
  • ENST00000340802.12
  • ENST00000551804.5
  • ENST00000549941.7
  • ENST00000629846.2
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-5.9e-8--4.2e-27---0.0381.8e-5-9.6e-4--0.79-
protein-1e-40--2.9e-17-3.7e-28--5.0e-6-2.9e-8-2.6e-26-0.0741.3e-10-0.024

* 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
BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC789101112131415log2(RSEM+1)tumornormal
Protein expression
BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC2424.52525.52626.52727.52828.52929.53030.5log2(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-cancer024681012141618200-2-4-6-8-10-12-14-16-18-20proteinRNASCNVclinicalpathwaycell 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 PFKM with phenotypes and mutations

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Signed p-values
Phenotype
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
HALLMARK_MYOGENESIS1.6e-200.0060.080.0170.0252.2e-160.776.0e-4-0.130.112.2e-16
xcell: stroma score6.6e-120.190.0511.8e-3-0.592.3e-7-8.9e-38.9e-3-0.345.2e-42.2e-16
xcell: Cancer associated fibroblast8.7e-100.0350.490.001-0.197.3e-5-0.033.3e-3-0.865.2e-44.4e-11
PROGENy: TGFb1e-70.0190.0630.024-0.32.3e-5-0.170.028-7.1e-40.132.2e-16
xcell: Hematopoietic stem cell1.3e-70.184.3e-30.0310.126.5e-6-0.0880.16-0.32-0.891.2e-8
HALLMARK_KRAS_SIGNALING_DN6.5e-60.99-0.54-13.4e-51.3e-68.2e-30.480.034-0.20.088
cibersort: Mast cell activated3.8e-40.0960.20.32-0.840.033-0.630.79-0.50.0171.1e-4
HALLMARK_APICAL_JUNCTION4.1e-47.0e-40.910.29-0.512e-7-0.230.51-5.5e-40.343.2e-7
ESTIMATE: StromalScore6.6e-40.0610.423.6e-3-0.585.7e-5-1.7e-4-0.99-5.2e-30.952.2e-16
KINASE-PSP_CDK58.0e-4---0.01-0.40.22--0.0170.03
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 PFKM

BRCA0.790.230.31proteinmRNASCNVmethylationCCRCC0.690.04-0.090.060.04-0.20proteinmRNASCNVmethylationCOAD0.420.260.33proteinmRNASCNVmethylationGBM0.66-0.200.07-0.190.06-0.12proteinmRNASCNVmethylationHNSCC0.64-0.010.04-0.030.15-0.06proteinmRNASCNVmethylationLSCC0.87-0.170.35-0.170.39-0.16proteinmRNASCNVmethylationLUAD0.72-0.040.22-0.080.42-0.19proteinmRNASCNVmethylationOV0.760.350.41proteinmRNASCNVmethylationPDAC0.570.050.11-0.160.42-0.19proteinmRNASCNVmethylationUCEC0.85-0.130.31-0.060.38-0.11proteinmRNASCNVmethylation

* 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 PFKM 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.