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Gene: PDHA1 |
Gene summary for PDHA1 |
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Gene information | Species | Human | Gene symbol | PDHA1 | Gene ID | 5160 |
Gene name | pyruvate dehydrogenase E1 subunit alpha 1 | |
Gene Alias | PDHA | |
Cytomap | Xp22.12 | |
Gene Type | protein-coding | GO ID | GO:0005975 | UniProtAcc | A0A024RBX9 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
5160 | PDHA1 | HTA11_347_2000001011 | Human | Colorectum | AD | 7.92e-06 | 4.27e-01 | -0.1954 |
5160 | PDHA1 | HTA11_83_2000001011 | Human | Colorectum | SER | 7.37e-05 | 5.83e-01 | -0.1526 |
5160 | PDHA1 | HTA11_1391_2000001011 | Human | Colorectum | AD | 5.72e-07 | 6.02e-01 | -0.059 |
5160 | PDHA1 | HTA11_866_3004761011 | Human | Colorectum | AD | 4.70e-02 | 3.12e-01 | 0.096 |
5160 | PDHA1 | HTA11_7696_3000711011 | Human | Colorectum | AD | 4.10e-13 | 5.50e-01 | 0.0674 |
5160 | PDHA1 | HTA11_99999965104_69814 | Human | Colorectum | MSS | 1.77e-06 | 4.93e-01 | 0.281 |
5160 | PDHA1 | HTA11_99999971662_82457 | Human | Colorectum | MSS | 7.06e-15 | 6.93e-01 | 0.3859 |
5160 | PDHA1 | HTA11_99999973899_84307 | Human | Colorectum | MSS | 2.18e-02 | 5.41e-01 | 0.2585 |
5160 | PDHA1 | A015-C-203 | Human | Colorectum | FAP | 1.27e-04 | -6.87e-02 | -0.1294 |
5160 | PDHA1 | A001-C-119 | Human | Colorectum | FAP | 2.20e-03 | -2.53e-01 | -0.1557 |
5160 | PDHA1 | A001-C-108 | Human | Colorectum | FAP | 6.65e-05 | -1.27e-01 | -0.0272 |
5160 | PDHA1 | A002-C-205 | Human | Colorectum | FAP | 2.09e-05 | -1.90e-01 | -0.1236 |
5160 | PDHA1 | A015-C-006 | Human | Colorectum | FAP | 4.03e-04 | -2.30e-01 | -0.0994 |
5160 | PDHA1 | A002-C-114 | Human | Colorectum | FAP | 2.66e-03 | -1.15e-01 | -0.1561 |
5160 | PDHA1 | A015-C-104 | Human | Colorectum | FAP | 1.32e-06 | -1.10e-01 | -0.1899 |
5160 | PDHA1 | A001-C-014 | Human | Colorectum | FAP | 3.59e-06 | -1.94e-01 | 0.0135 |
5160 | PDHA1 | A002-C-116 | Human | Colorectum | FAP | 7.41e-08 | -2.11e-01 | -0.0452 |
5160 | PDHA1 | A018-E-020 | Human | Colorectum | FAP | 6.16e-04 | -2.38e-02 | -0.2034 |
5160 | PDHA1 | F034 | Human | Colorectum | FAP | 2.84e-02 | -1.14e-01 | -0.0665 |
5160 | PDHA1 | F072B | Human | Colorectum | FAP | 8.37e-03 | -1.64e-01 | 0.257 |
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∗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). |
Page: 1 2 3 4 5 6 7 8 9 |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0006091 | Colorectum | AD | generation of precursor metabolites and energy | 209/3918 | 490/18723 | 3.17e-28 | 6.61e-25 | 209 |
GO:0009060 | Colorectum | AD | aerobic respiration | 108/3918 | 189/18723 | 9.14e-28 | 1.43e-24 | 108 |
GO:0045333 | Colorectum | AD | cellular respiration | 119/3918 | 230/18723 | 3.21e-25 | 4.02e-22 | 119 |
GO:0015980 | Colorectum | AD | energy derivation by oxidation of organic compounds | 143/3918 | 318/18723 | 2.78e-22 | 2.49e-19 | 143 |
GO:0009150 | Colorectum | AD | purine ribonucleotide metabolic process | 142/3918 | 368/18723 | 4.29e-15 | 1.17e-12 | 142 |
GO:0006163 | Colorectum | AD | purine nucleotide metabolic process | 149/3918 | 396/18723 | 1.08e-14 | 2.80e-12 | 149 |
GO:0072521 | Colorectum | AD | purine-containing compound metabolic process | 153/3918 | 416/18723 | 4.34e-14 | 1.01e-11 | 153 |
GO:0009259 | Colorectum | AD | ribonucleotide metabolic process | 144/3918 | 385/18723 | 5.25e-14 | 1.13e-11 | 144 |
GO:0019693 | Colorectum | AD | ribose phosphate metabolic process | 145/3918 | 396/18723 | 3.01e-13 | 5.71e-11 | 145 |
GO:0009117 | Colorectum | AD | nucleotide metabolic process | 168/3918 | 489/18723 | 2.20e-12 | 3.36e-10 | 168 |
GO:0006753 | Colorectum | AD | nucleoside phosphate metabolic process | 169/3918 | 497/18723 | 4.99e-12 | 6.98e-10 | 169 |
GO:0006090 | Colorectum | AD | pyruvate metabolic process | 47/3918 | 106/18723 | 4.85e-08 | 2.55e-06 | 47 |
GO:0009152 | Colorectum | AD | purine ribonucleotide biosynthetic process | 64/3918 | 169/18723 | 3.09e-07 | 1.22e-05 | 64 |
GO:0006099 | Colorectum | AD | tricarboxylic acid cycle | 19/3918 | 30/18723 | 5.82e-07 | 2.09e-05 | 19 |
GO:0009260 | Colorectum | AD | ribonucleotide biosynthetic process | 66/3918 | 182/18723 | 1.25e-06 | 4.02e-05 | 66 |
GO:0046390 | Colorectum | AD | ribose phosphate biosynthetic process | 67/3918 | 190/18723 | 3.21e-06 | 9.05e-05 | 67 |
GO:0006164 | Colorectum | AD | purine nucleotide biosynthetic process | 66/3918 | 191/18723 | 8.22e-06 | 1.97e-04 | 66 |
GO:0072522 | Colorectum | AD | purine-containing compound biosynthetic process | 68/3918 | 200/18723 | 1.12e-05 | 2.55e-04 | 68 |
GO:0019318 | Colorectum | AD | hexose metabolic process | 77/3918 | 237/18723 | 1.96e-05 | 4.01e-04 | 77 |
GO:1901293 | Colorectum | AD | nucleoside phosphate biosynthetic process | 80/3918 | 256/18723 | 6.31e-05 | 1.05e-03 | 80 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa05415 | Colorectum | AD | Diabetic cardiomyopathy | 114/2092 | 203/8465 | 3.65e-22 | 3.06e-20 | 1.95e-20 | 114 |
hsa01200 | Colorectum | AD | Carbon metabolism | 55/2092 | 115/8465 | 5.53e-08 | 8.42e-07 | 5.37e-07 | 55 |
hsa00620 | Colorectum | AD | Pyruvate metabolism | 28/2092 | 47/8465 | 3.71e-07 | 5.41e-06 | 3.45e-06 | 28 |
hsa00020 | Colorectum | AD | Citrate cycle (TCA cycle) | 20/2092 | 30/8465 | 1.43e-06 | 1.77e-05 | 1.13e-05 | 20 |
hsa00010 | Colorectum | AD | Glycolysis / Gluconeogenesis | 34/2092 | 67/8465 | 3.63e-06 | 4.34e-05 | 2.77e-05 | 34 |
hsa04066 | Colorectum | AD | HIF-1 signaling pathway | 48/2092 | 109/8465 | 7.25e-06 | 7.84e-05 | 5.00e-05 | 48 |
hsa05230 | Colorectum | AD | Central carbon metabolism in cancer | 33/2092 | 70/8465 | 3.61e-05 | 3.19e-04 | 2.03e-04 | 33 |
hsa054151 | Colorectum | AD | Diabetic cardiomyopathy | 114/2092 | 203/8465 | 3.65e-22 | 3.06e-20 | 1.95e-20 | 114 |
hsa012001 | Colorectum | AD | Carbon metabolism | 55/2092 | 115/8465 | 5.53e-08 | 8.42e-07 | 5.37e-07 | 55 |
hsa006201 | Colorectum | AD | Pyruvate metabolism | 28/2092 | 47/8465 | 3.71e-07 | 5.41e-06 | 3.45e-06 | 28 |
hsa000201 | Colorectum | AD | Citrate cycle (TCA cycle) | 20/2092 | 30/8465 | 1.43e-06 | 1.77e-05 | 1.13e-05 | 20 |
hsa000101 | Colorectum | AD | Glycolysis / Gluconeogenesis | 34/2092 | 67/8465 | 3.63e-06 | 4.34e-05 | 2.77e-05 | 34 |
hsa040661 | Colorectum | AD | HIF-1 signaling pathway | 48/2092 | 109/8465 | 7.25e-06 | 7.84e-05 | 5.00e-05 | 48 |
hsa052301 | Colorectum | AD | Central carbon metabolism in cancer | 33/2092 | 70/8465 | 3.61e-05 | 3.19e-04 | 2.03e-04 | 33 |
hsa054152 | Colorectum | SER | Diabetic cardiomyopathy | 103/1580 | 203/8465 | 1.45e-25 | 1.61e-23 | 1.17e-23 | 103 |
hsa006202 | Colorectum | SER | Pyruvate metabolism | 22/1580 | 47/8465 | 9.62e-06 | 1.33e-04 | 9.67e-05 | 22 |
hsa000202 | Colorectum | SER | Citrate cycle (TCA cycle) | 16/1580 | 30/8465 | 2.06e-05 | 2.74e-04 | 1.99e-04 | 16 |
hsa049222 | Colorectum | SER | Glucagon signaling pathway | 38/1580 | 107/8465 | 2.57e-05 | 3.28e-04 | 2.38e-04 | 38 |
hsa012002 | Colorectum | SER | Carbon metabolism | 40/1580 | 115/8465 | 2.77e-05 | 3.41e-04 | 2.47e-04 | 40 |
hsa040662 | Colorectum | SER | HIF-1 signaling pathway | 36/1580 | 109/8465 | 2.27e-04 | 2.15e-03 | 1.56e-03 | 36 |
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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 |
PDHA1 | SNV | Missense_Mutation | novel | c.1149N>T | p.Glu383Asp | p.E383D | P08559 | protein_coding | deleterious(0.03) | benign(0.013) | TCGA-B5-A1MR-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
PDHA1 | SNV | Missense_Mutation | c.723N>T | p.Gln241His | p.Q241H | P08559 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-B5-A1MX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Hormone Therapy | megace | SD | |
PDHA1 | SNV | Missense_Mutation | c.730G>A | p.Glu244Lys | p.E244K | P08559 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-B5-A3FA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
PDHA1 | SNV | Missense_Mutation | c.291G>T | p.Glu97Asp | p.E97D | P08559 | protein_coding | tolerated(0.54) | benign(0) | TCGA-BG-A221-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
PDHA1 | SNV | Missense_Mutation | c.851N>A | p.Gly284Asp | p.G284D | P08559 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-BS-A0UJ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
PDHA1 | SNV | Missense_Mutation | c.277N>T | p.Val93Leu | p.V93L | P08559 | protein_coding | tolerated(0.22) | benign(0) | TCGA-D1-A17Q-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
PDHA1 | SNV | Missense_Mutation | novel | c.809N>T | p.Ser270Phe | p.S270F | P08559 | protein_coding | deleterious(0) | probably_damaging(0.984) | TCGA-DF-A2KV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PDHA1 | SNV | Missense_Mutation | c.629N>T | p.Pro210Leu | p.P210L | P08559 | protein_coding | deleterious(0) | probably_damaging(0.977) | TCGA-DI-A1BU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD | |
PDHA1 | SNV | Missense_Mutation | novel | c.749C>A | p.Ala250Asp | p.A250D | P08559 | protein_coding | deleterious(0.02) | possibly_damaging(0.749) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PDHA1 | SNV | Missense_Mutation | novel | c.858N>A | p.Phe286Leu | p.F286L | P08559 | protein_coding | tolerated(0.07) | benign(0.021) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
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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 |
5160 | PDHA1 | ENZYME | CPI-613 |
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