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Gene: PKLR |
Gene summary for PKLR |
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Gene information | Species | Human | Gene symbol | PKLR | Gene ID | 5313 |
Gene name | pyruvate kinase L/R | |
Gene Alias | PK1 | |
Cytomap | 1q22 | |
Gene Type | protein-coding | GO ID | GO:0001666 | UniProtAcc | P30613 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
5313 | PKLR | HCC1_Meng | Human | Liver | HCC | 2.24e-05 | 2.63e-02 | 0.0246 |
5313 | PKLR | HCC1 | Human | Liver | HCC | 5.16e-13 | 2.72e+00 | 0.5336 |
5313 | PKLR | HCC2 | Human | Liver | HCC | 3.33e-53 | 4.01e+00 | 0.5341 |
5313 | PKLR | S014 | Human | Liver | HCC | 1.02e-40 | 1.66e+00 | 0.2254 |
5313 | PKLR | S015 | Human | Liver | HCC | 1.99e-43 | 1.77e+00 | 0.2375 |
5313 | PKLR | S016 | Human | Liver | HCC | 9.33e-59 | 1.90e+00 | 0.2243 |
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Tissue | Expression Dynamics | Abbreviation |
Liver | ![]() | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
∗log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage. |
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Malignant transformation related pathway analysis |
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Tissue | Disease Stage | Enriched GO biological Processes |
Colorectum | AD | ![]() |
Colorectum | SER | ![]() |
Colorectum | MSS | ![]() |
Colorectum | MSI-H | ![]() |
Colorectum | FAP | ![]() |
∗Top 15 enriched GO BP terms are showed in the bar plot of each disease state in each tissue. Each row represents a significant GO biological process which is colored according to the -log10(p.adjust). |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000609122 | Liver | HCC | generation of precursor metabolites and energy | 340/7958 | 490/18723 | 4.04e-34 | 2.85e-31 | 340 |
GO:004603422 | Liver | HCC | ATP metabolic process | 198/7958 | 277/18723 | 8.30e-23 | 1.55e-20 | 198 |
GO:000911722 | Liver | HCC | nucleotide metabolic process | 300/7958 | 489/18723 | 1.61e-17 | 1.71e-15 | 300 |
GO:000675322 | Liver | HCC | nucleoside phosphate metabolic process | 304/7958 | 497/18723 | 1.78e-17 | 1.85e-15 | 304 |
GO:001969322 | Liver | HCC | ribose phosphate metabolic process | 248/7958 | 396/18723 | 3.15e-16 | 2.70e-14 | 248 |
GO:000925922 | Liver | HCC | ribonucleotide metabolic process | 240/7958 | 385/18723 | 2.07e-15 | 1.51e-13 | 240 |
GO:001605321 | Liver | HCC | organic acid biosynthetic process | 200/7958 | 316/18723 | 5.24e-14 | 3.22e-12 | 200 |
GO:003286821 | Liver | HCC | response to insulin | 172/7958 | 264/18723 | 7.14e-14 | 4.23e-12 | 172 |
GO:004639421 | Liver | HCC | carboxylic acid biosynthetic process | 198/7958 | 314/18723 | 1.19e-13 | 6.78e-12 | 198 |
GO:000915022 | Liver | HCC | purine ribonucleotide metabolic process | 226/7958 | 368/18723 | 1.36e-13 | 7.69e-12 | 226 |
GO:007252122 | Liver | HCC | purine-containing compound metabolic process | 250/7958 | 416/18723 | 2.26e-13 | 1.24e-11 | 250 |
GO:003286921 | Liver | HCC | cellular response to insulin stimulus | 137/7958 | 203/18723 | 4.69e-13 | 2.44e-11 | 137 |
GO:004343422 | Liver | HCC | response to peptide hormone | 247/7958 | 414/18723 | 9.55e-13 | 4.77e-11 | 247 |
GO:003166722 | Liver | HCC | response to nutrient levels | 276/7958 | 474/18723 | 2.30e-12 | 1.08e-10 | 276 |
GO:000616322 | Liver | HCC | purine nucleotide metabolic process | 236/7958 | 396/18723 | 3.59e-12 | 1.62e-10 | 236 |
GO:007137521 | Liver | HCC | cellular response to peptide hormone stimulus | 179/7958 | 290/18723 | 2.54e-11 | 9.88e-10 | 179 |
GO:190165321 | Liver | HCC | cellular response to peptide | 211/7958 | 359/18723 | 2.86e-10 | 9.63e-09 | 211 |
GO:000758421 | Liver | HCC | response to nutrient | 111/7958 | 174/18723 | 1.10e-08 | 2.73e-07 | 111 |
GO:000940811 | Liver | HCC | response to heat | 76/7958 | 110/18723 | 1.48e-08 | 3.58e-07 | 76 |
GO:000609022 | Liver | HCC | pyruvate metabolic process | 73/7958 | 106/18723 | 3.52e-08 | 7.82e-07 | 73 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0493242 | Liver | HCC | Non-alcoholic fatty liver disease | 124/4020 | 155/8465 | 4.54e-17 | 2.54e-15 | 1.41e-15 | 124 |
hsa0120041 | Liver | HCC | Carbon metabolism | 89/4020 | 115/8465 | 3.92e-11 | 6.56e-10 | 3.65e-10 | 89 |
hsa0491041 | Liver | HCC | Insulin signaling pathway | 95/4020 | 137/8465 | 1.53e-07 | 1.97e-06 | 1.10e-06 | 95 |
hsa0062021 | Liver | HCC | Pyruvate metabolism | 37/4020 | 47/8465 | 1.10e-05 | 8.03e-05 | 4.46e-05 | 37 |
hsa0123021 | Liver | HCC | Biosynthesis of amino acids | 53/4020 | 75/8465 | 3.79e-05 | 2.11e-04 | 1.18e-04 | 53 |
hsa0001022 | Liver | HCC | Glycolysis / Gluconeogenesis | 43/4020 | 67/8465 | 4.26e-03 | 1.29e-02 | 7.15e-03 | 43 |
hsa0493252 | Liver | HCC | Non-alcoholic fatty liver disease | 124/4020 | 155/8465 | 4.54e-17 | 2.54e-15 | 1.41e-15 | 124 |
hsa0120051 | Liver | HCC | Carbon metabolism | 89/4020 | 115/8465 | 3.92e-11 | 6.56e-10 | 3.65e-10 | 89 |
hsa0491051 | Liver | HCC | Insulin signaling pathway | 95/4020 | 137/8465 | 1.53e-07 | 1.97e-06 | 1.10e-06 | 95 |
hsa0062031 | Liver | HCC | Pyruvate metabolism | 37/4020 | 47/8465 | 1.10e-05 | 8.03e-05 | 4.46e-05 | 37 |
hsa0123031 | Liver | HCC | Biosynthesis of amino acids | 53/4020 | 75/8465 | 3.79e-05 | 2.11e-04 | 1.18e-04 | 53 |
hsa0001032 | Liver | HCC | Glycolysis / Gluconeogenesis | 43/4020 | 67/8465 | 4.26e-03 | 1.29e-02 | 7.15e-03 | 43 |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
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TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
∗The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression. |
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Somatic mutation of malignant transformation related genes |
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Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
PKLR | SNV | Missense_Mutation | c.227N>A | p.Leu76Gln | p.L76Q | P30613 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-44-3918-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | SD | |
PKLR | SNV | Missense_Mutation | c.226N>A | p.Leu76Met | p.L76M | P30613 | protein_coding | deleterious(0.02) | probably_damaging(1) | TCGA-44-3918-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | SD | |
PKLR | SNV | Missense_Mutation | rs149932430 | c.1346N>T | p.Arg449Leu | p.R449L | P30613 | protein_coding | tolerated(0.33) | benign(0.034) | TCGA-44-6777-01 | Lung | lung adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PKLR | SNV | Missense_Mutation | c.970N>C | p.Asp324His | p.D324H | P30613 | protein_coding | deleterious(0.01) | probably_damaging(0.939) | TCGA-55-7574-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | PD | |
PKLR | SNV | Missense_Mutation | c.101N>T | p.Gly34Val | p.G34V | P30613 | protein_coding | deleterious_low_confidence(0.01) | benign(0.182) | TCGA-55-8302-01 | Lung | lung adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
PKLR | SNV | Missense_Mutation | c.1250N>A | p.Ala417Glu | p.A417E | P30613 | protein_coding | deleterious(0) | probably_damaging(0.987) | TCGA-55-8507-01 | Lung | lung adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
PKLR | SNV | Missense_Mutation | c.71N>A | p.Ala24Glu | p.A24E | P30613 | protein_coding | deleterious_low_confidence(0.03) | benign(0.031) | TCGA-86-7713-01 | Lung | lung adenocarcinoma | Male | >=65 | I/II | Chemotherapy | etoposide | CR | |
PKLR | SNV | Missense_Mutation | c.1076N>C | p.Arg359Pro | p.R359P | P30613 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-86-8073-01 | Lung | lung adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
PKLR | SNV | Missense_Mutation | novel | c.902T>C | p.Leu301Pro | p.L301P | P30613 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-97-7941-01 | Lung | lung adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PKLR | SNV | Missense_Mutation | novel | c.727N>T | p.Gly243Cys | p.G243C | P30613 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-18-3421-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
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Related drugs of malignant transformation related genes |
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(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
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