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Gene: NKX2-1 |
Gene summary for NKX2-1 |
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Gene information | Species | Human | Gene symbol | NKX2-1 | Gene ID | 7080 |
Gene name | NK2 homeobox 1 | |
Gene Alias | BCH | |
Cytomap | 14q13.3 | |
Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | P43699 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
7080 | NKX2-1 | Adj_PTCwithHT_6 | Human | Thyroid | HT | 1.28e-08 | -3.70e-01 | 0.02 |
7080 | NKX2-1 | Adj_PTCwithHT_8 | Human | Thyroid | HT | 2.18e-03 | -3.70e-01 | 0.0267 |
7080 | NKX2-1 | PTCwithHT_6 | Human | Thyroid | HT | 2.77e-07 | -3.63e-01 | 0.02 |
7080 | NKX2-1 | PTCwithHT_8 | Human | Thyroid | HT | 7.48e-05 | -3.31e-01 | 0.0351 |
7080 | NKX2-1 | PTCwithoutHT_2 | Human | Thyroid | PTC | 1.14e-05 | -3.30e-01 | 0.0419 |
7080 | NKX2-1 | male-WTA | Human | Thyroid | PTC | 4.93e-69 | 8.37e-01 | 0.1037 |
7080 | NKX2-1 | female-WTA | Human | Thyroid | PTC | 5.32e-05 | 5.80e-01 | 0.0726 |
7080 | NKX2-1 | nodule-WTA | Human | Thyroid | goiters | 1.09e-02 | 2.64e-01 | 0.0534 |
7080 | NKX2-1 | PTC01 | Human | Thyroid | PTC | 4.20e-31 | 1.31e+00 | 0.1899 |
7080 | NKX2-1 | PTC03 | Human | Thyroid | PTC | 7.30e-10 | 1.06e+00 | 0.1784 |
7080 | NKX2-1 | PTC04 | Human | Thyroid | PTC | 5.01e-44 | 1.51e+00 | 0.1927 |
7080 | NKX2-1 | PTC05 | Human | Thyroid | PTC | 2.39e-36 | 2.21e+00 | 0.2065 |
7080 | NKX2-1 | PTC06 | Human | Thyroid | PTC | 1.96e-76 | 2.54e+00 | 0.2057 |
7080 | NKX2-1 | PTC07 | Human | Thyroid | PTC | 7.79e-96 | 1.99e+00 | 0.2044 |
7080 | NKX2-1 | ATC12 | Human | Thyroid | ATC | 2.71e-09 | -3.70e-01 | 0.34 |
7080 | NKX2-1 | ATC13 | Human | Thyroid | ATC | 2.77e-07 | -3.70e-01 | 0.34 |
7080 | NKX2-1 | ATC4 | Human | Thyroid | ATC | 1.53e-04 | -3.70e-01 | 0.34 |
7080 | NKX2-1 | ATC5 | Human | Thyroid | ATC | 1.28e-08 | -3.70e-01 | 0.34 |
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Tissue | Expression Dynamics | Abbreviation |
Thyroid | ![]() | ATC: Anaplastic thyroid cancer |
HT: Hashimoto's thyroiditis | ||
PTC: Papillary thyroid cancer |
∗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:000762324 | Thyroid | HT | circadian rhythm | 33/1272 | 210/18723 | 5.38e-06 | 1.66e-04 | 33 |
GO:004851120 | Thyroid | HT | rhythmic process | 41/1272 | 298/18723 | 1.26e-05 | 3.27e-04 | 41 |
GO:004873228 | Thyroid | HT | gland development | 53/1272 | 436/18723 | 2.71e-05 | 5.97e-04 | 53 |
GO:007155918 | Thyroid | HT | response to transforming growth factor beta | 35/1272 | 256/18723 | 6.03e-05 | 1.13e-03 | 35 |
GO:00420638 | Thyroid | HT | gliogenesis | 39/1272 | 301/18723 | 7.81e-05 | 1.38e-03 | 39 |
GO:007156018 | Thyroid | HT | cellular response to transforming growth factor beta stimulus | 34/1272 | 250/18723 | 8.48e-05 | 1.46e-03 | 34 |
GO:00512718 | Thyroid | HT | negative regulation of cellular component movement | 45/1272 | 367/18723 | 8.73e-05 | 1.48e-03 | 45 |
GO:20001468 | Thyroid | HT | negative regulation of cell motility | 44/1272 | 359/18723 | 1.05e-04 | 1.75e-03 | 44 |
GO:000183710 | Thyroid | HT | epithelial to mesenchymal transition | 24/1272 | 157/18723 | 1.53e-04 | 2.34e-03 | 24 |
GO:00400138 | Thyroid | HT | negative regulation of locomotion | 46/1272 | 391/18723 | 1.94e-04 | 2.84e-03 | 46 |
GO:004885720 | Thyroid | HT | neural nucleus development | 13/1272 | 64/18723 | 3.12e-04 | 4.13e-03 | 13 |
GO:000717818 | Thyroid | HT | transmembrane receptor protein serine/threonine kinase signaling pathway | 42/1272 | 355/18723 | 3.21e-04 | 4.20e-03 | 42 |
GO:00303368 | Thyroid | HT | negative regulation of cell migration | 41/1272 | 344/18723 | 3.22e-04 | 4.21e-03 | 41 |
GO:003032418 | Thyroid | HT | lung development | 25/1272 | 177/18723 | 3.95e-04 | 4.93e-03 | 25 |
GO:003032316 | Thyroid | HT | respiratory tube development | 25/1272 | 181/18723 | 5.54e-04 | 6.55e-03 | 25 |
GO:00604285 | Thyroid | HT | lung epithelium development | 9/1272 | 37/18723 | 6.57e-04 | 7.52e-03 | 9 |
GO:00604795 | Thyroid | HT | lung cell differentiation | 7/1272 | 24/18723 | 8.15e-04 | 8.78e-03 | 7 |
GO:000717918 | Thyroid | HT | transforming growth factor beta receptor signaling pathway | 26/1272 | 198/18723 | 9.39e-04 | 9.80e-03 | 26 |
GO:006156418 | Thyroid | HT | axon development | 50/1272 | 467/18723 | 9.50e-04 | 9.83e-03 | 50 |
GO:004860820 | Thyroid | HT | reproductive structure development | 46/1272 | 424/18723 | 1.14e-03 | 1.13e-02 | 46 |
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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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∗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 |
NKX2-1 | SNV | Missense_Mutation | c.490N>A | p.Gly164Ser | p.G164S | P43699 | protein_coding | tolerated(0.16) | possibly_damaging(0.885) | TCGA-86-8054-01 | Lung | lung adenocarcinoma | Male | <65 | I/II | Chemotherapy | paclitaxel | CR | |
NKX2-1 | SNV | Missense_Mutation | c.514G>C | p.Gly172Arg | p.G172R | P43699 | protein_coding | deleterious(0.01) | benign(0.438) | TCGA-33-4566-01 | Lung | lung squamous cell carcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
NKX2-1 | SNV | Missense_Mutation | c.326C>T | p.Ser109Leu | p.S109L | P43699 | protein_coding | deleterious(0.02) | possibly_damaging(0.462) | TCGA-98-A53J-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
NKX2-1 | SNV | Missense_Mutation | novel | c.394N>A | p.Asp132Asn | p.D132N | P43699 | protein_coding | deleterious(0.03) | possibly_damaging(0.501) | TCGA-NC-A5HQ-01 | Lung | lung squamous cell carcinoma | Male | >=65 | III/IV | Chemotherapy | carboplatin | CR |
NKX2-1 | SNV | Missense_Mutation | novel | c.64N>T | p.Pro22Ser | p.P22S | P43699 | protein_coding | deleterious_low_confidence(0) | benign(0) | TCGA-CN-A63U-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
NKX2-1 | SNV | Missense_Mutation | c.688C>A | p.Leu230Met | p.L230M | P43699 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-BR-8591-01 | Stomach | stomach adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD | |
NKX2-1 | SNV | Missense_Mutation | c.565N>A | p.Ala189Thr | p.A189T | P43699 | protein_coding | tolerated(0.39) | benign(0.02) | TCGA-HU-A4GP-01 | Stomach | stomach adenocarcinoma | Female | <65 | I/II | Chemotherapy | didox | SD | |
NKX2-1 | SNV | Missense_Mutation | c.568N>A | p.Pro190Thr | p.P190T | P43699 | protein_coding | deleterious(0.01) | probably_damaging(0.996) | TCGA-HU-A4H3-01 | Stomach | stomach adenocarcinoma | Female | <65 | III/IV | Chemotherapy | ts-1 | PD | |
NKX2-1 | SNV | Missense_Mutation | novel | c.436N>A | p.Ala146Thr | p.A146T | P43699 | protein_coding | tolerated(0.23) | benign(0.02) | TCGA-VQ-A8P2-01 | Stomach | stomach adenocarcinoma | Male | >=65 | III/IV | Unspecific | Complete Response | |
NKX2-1 | SNV | Missense_Mutation | c.165G>C | p.Lys55Asn | p.K55N | P43699 | protein_coding | deleterious(0) | possibly_damaging(0.648) | TCGA-BJ-A2NA-01 | Thyroid | thyroid carcinoma | Male | >=65 | III/IV | Unknown | Unknown | PD |
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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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