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Gene: FXN |
Gene summary for FXN |
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Gene information | Species | Human | Gene symbol | FXN | Gene ID | 2395 |
Gene name | frataxin | |
Gene Alias | CyaY | |
Cytomap | 9q21.11 | |
Gene Type | protein-coding | GO ID | GO:0000302 | UniProtAcc | A0A0S2Z3G4 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
2395 | FXN | HTA11_3410_2000001011 | Human | Colorectum | AD | 1.41e-07 | 1.84e-01 | 0.0155 |
2395 | FXN | HTA11_2487_2000001011 | Human | Colorectum | SER | 1.14e-02 | 1.53e-01 | -0.1808 |
2395 | FXN | HTA11_1938_2000001011 | Human | Colorectum | AD | 1.85e-11 | 3.30e-01 | -0.0811 |
2395 | FXN | HTA11_347_2000001011 | Human | Colorectum | AD | 1.88e-15 | 3.36e-01 | -0.1954 |
2395 | FXN | HTA11_3361_2000001011 | Human | Colorectum | AD | 5.46e-03 | 1.57e-01 | -0.1207 |
2395 | FXN | HTA11_83_2000001011 | Human | Colorectum | SER | 1.12e-08 | 3.34e-01 | -0.1526 |
2395 | FXN | HTA11_696_2000001011 | Human | Colorectum | AD | 2.00e-05 | 1.78e-01 | -0.1464 |
2395 | FXN | HTA11_866_2000001011 | Human | Colorectum | AD | 4.28e-10 | 2.13e-01 | -0.1001 |
2395 | FXN | HTA11_1391_2000001011 | Human | Colorectum | AD | 2.01e-20 | 4.88e-01 | -0.059 |
2395 | FXN | HTA11_5212_2000001011 | Human | Colorectum | AD | 2.28e-02 | 1.93e-01 | -0.2061 |
2395 | FXN | HTA11_866_3004761011 | Human | Colorectum | AD | 7.84e-09 | 2.17e-01 | 0.096 |
2395 | FXN | HTA11_4255_2000001011 | Human | Colorectum | SER | 2.79e-07 | 3.63e-01 | 0.0446 |
2395 | FXN | HTA11_8622_2000001021 | Human | Colorectum | SER | 4.45e-03 | 1.83e-01 | 0.0528 |
2395 | FXN | HTA11_7663_2000001011 | Human | Colorectum | SER | 7.76e-08 | 4.07e-01 | 0.0131 |
2395 | FXN | HTA11_10623_2000001011 | Human | Colorectum | AD | 6.46e-07 | 3.17e-01 | -0.0177 |
2395 | FXN | HTA11_10711_2000001011 | Human | Colorectum | AD | 6.02e-03 | 1.35e-01 | 0.0338 |
2395 | FXN | HTA11_7696_3000711011 | Human | Colorectum | AD | 3.83e-12 | 2.89e-01 | 0.0674 |
2395 | FXN | HTA11_6818_2000001011 | Human | Colorectum | AD | 1.38e-07 | 3.09e-01 | 0.0112 |
2395 | FXN | HTA11_6818_2000001021 | Human | Colorectum | AD | 3.40e-07 | 2.77e-01 | 0.0588 |
2395 | FXN | HTA11_99999970781_79442 | Human | Colorectum | MSS | 1.96e-10 | 2.10e-01 | 0.294 |
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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:001003820 | Oral cavity | OSCC | response to metal ion | 188/7305 | 373/18723 | 4.34e-06 | 5.00e-05 | 188 |
GO:00164856 | Oral cavity | OSCC | protein processing | 121/7305 | 225/18723 | 4.56e-06 | 5.23e-05 | 121 |
GO:00303079 | Oral cavity | OSCC | positive regulation of cell growth | 92/7305 | 166/18723 | 1.27e-05 | 1.29e-04 | 92 |
GO:00108239 | Oral cavity | OSCC | negative regulation of mitochondrion organization | 34/7305 | 49/18723 | 1.59e-05 | 1.59e-04 | 34 |
GO:00067905 | Oral cavity | OSCC | sulfur compound metabolic process | 168/7305 | 339/18723 | 4.50e-05 | 3.84e-04 | 168 |
GO:00469168 | Oral cavity | OSCC | cellular transition metal ion homeostasis | 64/7305 | 115/18723 | 2.13e-04 | 1.40e-03 | 64 |
GO:00902016 | Oral cavity | OSCC | negative regulation of release of cytochrome c from mitochondria | 16/7305 | 20/18723 | 2.24e-04 | 1.46e-03 | 16 |
GO:00162262 | Oral cavity | OSCC | iron-sulfur cluster assembly | 19/7305 | 26/18723 | 4.46e-04 | 2.70e-03 | 19 |
GO:00311632 | Oral cavity | OSCC | metallo-sulfur cluster assembly | 19/7305 | 26/18723 | 4.46e-04 | 2.70e-03 | 19 |
GO:199054218 | Oral cavity | OSCC | mitochondrial transmembrane transport | 56/7305 | 102/18723 | 8.06e-04 | 4.32e-03 | 56 |
GO:00513533 | Oral cavity | OSCC | positive regulation of oxidoreductase activity | 35/7305 | 59/18723 | 1.24e-03 | 6.23e-03 | 35 |
GO:004592710 | Oral cavity | OSCC | positive regulation of growth | 125/7305 | 259/18723 | 1.44e-03 | 6.97e-03 | 125 |
GO:00461481 | Oral cavity | OSCC | pigment biosynthetic process | 36/7305 | 62/18723 | 1.82e-03 | 8.57e-03 | 36 |
GO:00550728 | Oral cavity | OSCC | iron ion homeostasis | 46/7305 | 85/18723 | 3.31e-03 | 1.42e-02 | 46 |
GO:0032329 | Oral cavity | OSCC | serine transport | 9/7305 | 11/18723 | 4.85e-03 | 1.92e-02 | 9 |
GO:00067831 | Oral cavity | OSCC | heme biosynthetic process | 17/7305 | 27/18723 | 1.01e-02 | 3.49e-02 | 17 |
GO:00352646 | Oral cavity | OSCC | multicellular organism growth | 65/7305 | 132/18723 | 1.06e-02 | 3.60e-02 | 65 |
GO:000683919 | Oral cavity | LP | mitochondrial transport | 119/4623 | 254/18723 | 1.06e-14 | 1.33e-12 | 119 |
GO:199054219 | Oral cavity | LP | mitochondrial transmembrane transport | 37/4623 | 102/18723 | 5.93e-03 | 3.53e-02 | 37 |
GO:00323291 | Oral cavity | LP | serine transport | 7/4623 | 11/18723 | 7.01e-03 | 3.96e-02 | 7 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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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 |
FXN | SNV | Missense_Mutation | novel | c.485G>A | p.Gly162Glu | p.G162E | Q16595 | protein_coding | deleterious(0.02) | probably_damaging(1) | TCGA-C8-A26X-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
FXN | SNV | Missense_Mutation | rs551991546 | c.446C>T | p.Thr149Met | p.T149M | Q16595 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AA-A022-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
FXN | SNV | Missense_Mutation | c.320N>T | p.Ala107Val | p.A107V | Q16595 | protein_coding | deleterious(0.02) | possibly_damaging(0.571) | TCGA-AY-6197-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
FXN | SNV | Missense_Mutation | novel | c.392N>C | p.Val131Ala | p.V131A | Q16595 | protein_coding | deleterious(0.02) | probably_damaging(0.991) | TCGA-D5-6540-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
FXN | SNV | Missense_Mutation | novel | c.470N>A | p.Ser157Tyr | p.S157Y | Q16595 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
FXN | SNV | Missense_Mutation | novel | c.560N>T | p.Ala187Val | p.A187V | Q16595 | protein_coding | deleterious(0.03) | benign(0.164) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
FXN | SNV | Missense_Mutation | novel | c.242N>A | p.Ser81Tyr | p.S81Y | Q16595 | protein_coding | deleterious(0) | benign(0.133) | TCGA-A5-A2K5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
FXN | SNV | Missense_Mutation | novel | c.502N>C | p.Trp168Arg | p.W168R | Q16595 | protein_coding | deleterious(0.02) | benign(0.11) | TCGA-AP-A054-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | PD |
FXN | SNV | Missense_Mutation | c.482G>T | p.Ser161Ile | p.S161I | Q16595 | protein_coding | deleterious(0) | probably_damaging(0.979) | TCGA-B5-A11Y-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
FXN | SNV | Missense_Mutation | c.327T>A | p.Phe109Leu | p.F109L | Q16595 | protein_coding | deleterious(0.04) | possibly_damaging(0.758) | TCGA-D1-A17Q-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <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 |
2395 | FXN | TRANSPORTER, ENZYME | CISPLATIN | CISPLATIN | 12928720 | |
2395 | FXN | TRANSPORTER, ENZYME | ERYTHROPOIETIN | EPOETIN BETA | 16269021 |
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