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Gene: TGFB1 |
Gene summary for TGFB1 |
Gene summary. |
Gene information | Species | Human | Gene symbol | TGFB1 | Gene ID | 7040 |
Gene name | transforming growth factor beta 1 | |
Gene Alias | CED | |
Cytomap | 19q13.2 | |
Gene Type | protein-coding | GO ID | GO:0000018 | UniProtAcc | P01137 |
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Malignant transformation analysis |
Identification of the aberrant gene expression in precancerous and cancerous lesions by comparing the gene expression of stem-like cells in diseased tissues with normal stem cells |
Malignant transformation involving gene list. |
Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
7040 | TGFB1 | LZE4T | Human | Esophagus | ESCC | 1.43e-05 | 2.58e-01 | 0.0811 |
7040 | TGFB1 | LZE20T | Human | Esophagus | ESCC | 6.37e-06 | 3.69e-01 | 0.0662 |
7040 | TGFB1 | LZE22D1 | Human | Esophagus | HGIN | 1.14e-03 | 1.78e-01 | 0.0595 |
7040 | TGFB1 | LZE22T | Human | Esophagus | ESCC | 3.87e-10 | 7.23e-01 | 0.068 |
7040 | TGFB1 | LZE24T | Human | Esophagus | ESCC | 2.12e-38 | 1.17e+00 | 0.0596 |
7040 | TGFB1 | LZE21T | Human | Esophagus | ESCC | 9.25e-05 | 5.08e-01 | 0.0655 |
7040 | TGFB1 | P1T-E | Human | Esophagus | ESCC | 4.83e-08 | 6.50e-01 | 0.0875 |
7040 | TGFB1 | P2T-E | Human | Esophagus | ESCC | 5.15e-08 | 1.12e-01 | 0.1177 |
7040 | TGFB1 | P4T-E | Human | Esophagus | ESCC | 9.88e-33 | 7.78e-01 | 0.1323 |
7040 | TGFB1 | P5T-E | Human | Esophagus | ESCC | 4.15e-27 | 5.74e-01 | 0.1327 |
7040 | TGFB1 | P8T-E | Human | Esophagus | ESCC | 9.16e-24 | 5.53e-01 | 0.0889 |
7040 | TGFB1 | P9T-E | Human | Esophagus | ESCC | 4.33e-12 | 3.66e-01 | 0.1131 |
7040 | TGFB1 | P10T-E | Human | Esophagus | ESCC | 2.54e-21 | 4.23e-01 | 0.116 |
7040 | TGFB1 | P11T-E | Human | Esophagus | ESCC | 1.78e-27 | 1.14e+00 | 0.1426 |
7040 | TGFB1 | P12T-E | Human | Esophagus | ESCC | 1.01e-20 | 4.48e-01 | 0.1122 |
7040 | TGFB1 | P15T-E | Human | Esophagus | ESCC | 2.41e-37 | 7.87e-01 | 0.1149 |
7040 | TGFB1 | P16T-E | Human | Esophagus | ESCC | 1.21e-04 | 1.65e-01 | 0.1153 |
7040 | TGFB1 | P17T-E | Human | Esophagus | ESCC | 8.42e-19 | 8.11e-01 | 0.1278 |
7040 | TGFB1 | P19T-E | Human | Esophagus | ESCC | 2.47e-04 | 4.32e-01 | 0.1662 |
7040 | TGFB1 | P20T-E | Human | Esophagus | ESCC | 3.03e-33 | 7.74e-01 | 0.1124 |
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Transcriptomic changes along malignancy continuum. |
∗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 |
Find out the enriched GO biological processes and KEGG pathways involved in transition from healthy to precancer to cancer |
Figure of enriched GO biological processes. |
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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Enriched GO biological processes. |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00512517 | Oral cavity | EOLP | positive regulation of lymphocyte activation | 72/2218 | 362/18723 | 6.21e-06 | 1.22e-04 | 72 |
GO:190165424 | Oral cavity | EOLP | response to ketone | 45/2218 | 194/18723 | 6.38e-06 | 1.24e-04 | 45 |
GO:007156016 | Oral cavity | EOLP | cellular response to transforming growth factor beta stimulus | 54/2218 | 250/18723 | 7.76e-06 | 1.49e-04 | 54 |
GO:009026323 | Oral cavity | EOLP | positive regulation of canonical Wnt signaling pathway | 29/2218 | 106/18723 | 1.04e-05 | 1.86e-04 | 29 |
GO:007265924 | Oral cavity | EOLP | protein localization to plasma membrane | 59/2218 | 284/18723 | 1.07e-05 | 1.91e-04 | 59 |
GO:000181915 | Oral cavity | EOLP | positive regulation of cytokine production | 87/2218 | 467/18723 | 1.08e-05 | 1.92e-04 | 87 |
GO:004866015 | Oral cavity | EOLP | regulation of smooth muscle cell proliferation | 42/2218 | 180/18723 | 1.10e-05 | 1.93e-04 | 42 |
GO:006082823 | Oral cavity | EOLP | regulation of canonical Wnt signaling pathway | 54/2218 | 253/18723 | 1.11e-05 | 1.95e-04 | 54 |
GO:003017715 | Oral cavity | EOLP | positive regulation of Wnt signaling pathway | 35/2218 | 140/18723 | 1.20e-05 | 2.07e-04 | 35 |
GO:006053715 | Oral cavity | EOLP | muscle tissue development | 77/2218 | 403/18723 | 1.37e-05 | 2.31e-04 | 77 |
GO:001063419 | Oral cavity | EOLP | positive regulation of epithelial cell migration | 41/2218 | 176/18723 | 1.45e-05 | 2.42e-04 | 41 |
GO:005105421 | Oral cavity | EOLP | positive regulation of DNA metabolic process | 45/2218 | 201/18723 | 1.68e-05 | 2.77e-04 | 45 |
GO:000661123 | Oral cavity | EOLP | protein export from nucleus | 19/2218 | 57/18723 | 1.70e-05 | 2.79e-04 | 19 |
GO:004586017 | Oral cavity | EOLP | positive regulation of protein kinase activity | 74/2218 | 386/18723 | 1.78e-05 | 2.89e-04 | 74 |
GO:004682421 | Oral cavity | EOLP | positive regulation of nucleocytoplasmic transport | 20/2218 | 62/18723 | 1.78e-05 | 2.89e-04 | 20 |
GO:00508677 | Oral cavity | EOLP | positive regulation of cell activation | 79/2218 | 420/18723 | 1.91e-05 | 3.02e-04 | 79 |
GO:000155823 | Oral cavity | EOLP | regulation of cell growth | 78/2218 | 414/18723 | 2.02e-05 | 3.19e-04 | 78 |
GO:000716216 | Oral cavity | EOLP | negative regulation of cell adhesion | 61/2218 | 303/18723 | 2.11e-05 | 3.28e-04 | 61 |
GO:006007023 | Oral cavity | EOLP | canonical Wnt signaling pathway | 61/2218 | 303/18723 | 2.11e-05 | 3.28e-04 | 61 |
GO:003812723 | Oral cavity | EOLP | ERBB signaling pathway | 31/2218 | 121/18723 | 2.21e-05 | 3.37e-04 | 31 |
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Enriched KEGG pathways. |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0541530 | Esophagus | HGIN | Diabetic cardiomyopathy | 80/1383 | 203/8465 | 1.35e-15 | 3.38e-14 | 2.69e-14 | 80 |
hsa0493230 | Esophagus | HGIN | Non-alcoholic fatty liver disease | 66/1383 | 155/8465 | 5.21e-15 | 1.21e-13 | 9.64e-14 | 66 |
hsa0421828 | Esophagus | HGIN | Cellular senescence | 42/1383 | 156/8465 | 4.94e-04 | 5.03e-03 | 4.00e-03 | 42 |
hsa0516639 | Esophagus | HGIN | Human T-cell leukemia virus 1 infection | 51/1383 | 222/8465 | 5.84e-03 | 4.05e-02 | 3.22e-02 | 51 |
hsa0520528 | Esophagus | HGIN | Proteoglycans in cancer | 47/1383 | 205/8465 | 8.23e-03 | 4.71e-02 | 3.74e-02 | 47 |
hsa05415114 | Esophagus | HGIN | Diabetic cardiomyopathy | 80/1383 | 203/8465 | 1.35e-15 | 3.38e-14 | 2.69e-14 | 80 |
hsa04932113 | Esophagus | HGIN | Non-alcoholic fatty liver disease | 66/1383 | 155/8465 | 5.21e-15 | 1.21e-13 | 9.64e-14 | 66 |
hsa04218111 | Esophagus | HGIN | Cellular senescence | 42/1383 | 156/8465 | 4.94e-04 | 5.03e-03 | 4.00e-03 | 42 |
hsa05166114 | Esophagus | HGIN | Human T-cell leukemia virus 1 infection | 51/1383 | 222/8465 | 5.84e-03 | 4.05e-02 | 3.22e-02 | 51 |
hsa05205112 | Esophagus | HGIN | Proteoglycans in cancer | 47/1383 | 205/8465 | 8.23e-03 | 4.71e-02 | 3.74e-02 | 47 |
hsa0411023 | Esophagus | ESCC | Cell cycle | 126/4205 | 157/8465 | 1.34e-15 | 5.60e-14 | 2.87e-14 | 126 |
hsa04932210 | Esophagus | ESCC | Non-alcoholic fatty liver disease | 122/4205 | 155/8465 | 5.69e-14 | 1.59e-12 | 8.14e-13 | 122 |
hsa05166211 | Esophagus | ESCC | Human T-cell leukemia virus 1 infection | 164/4205 | 222/8465 | 8.13e-14 | 2.09e-12 | 1.07e-12 | 164 |
hsa0421829 | Esophagus | ESCC | Cellular senescence | 119/4205 | 156/8465 | 5.89e-12 | 9.40e-11 | 4.81e-11 | 119 |
hsa05415211 | Esophagus | ESCC | Diabetic cardiomyopathy | 146/4205 | 203/8465 | 5.81e-11 | 7.78e-10 | 3.99e-10 | 146 |
hsa0521020 | Esophagus | ESCC | Colorectal cancer | 69/4205 | 86/8465 | 4.06e-09 | 4.13e-08 | 2.11e-08 | 69 |
hsa0521216 | Esophagus | ESCC | Pancreatic cancer | 62/4205 | 76/8465 | 7.37e-09 | 6.85e-08 | 3.51e-08 | 62 |
hsa0522020 | Esophagus | ESCC | Chronic myeloid leukemia | 61/4205 | 76/8465 | 3.20e-08 | 2.68e-07 | 1.37e-07 | 61 |
hsa0520529 | Esophagus | ESCC | Proteoglycans in cancer | 138/4205 | 205/8465 | 1.79e-07 | 1.40e-06 | 7.15e-07 | 138 |
hsa0493310 | Esophagus | ESCC | AGE-RAGE signaling pathway in diabetic complications | 72/4205 | 100/8465 | 4.15e-06 | 2.28e-05 | 1.17e-05 | 72 |
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Cell-cell communication analysis |
Identification of potential cell-cell interactions between two cell types and their ligand-receptor pairs for different disease states |
Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
TGFB1 | TGFbR1_R2 | TGFB1_TGFBR1_TGFBR2 | TGFb | Breast | ADJ |
TGFB1 | TGFbR1_R2 | TGFB1_TGFBR1_TGFBR2 | TGFb | Breast | DCIS |
TGFB1 | ACVR1_TGFbR | TGFB1_ACVR1_TGFBR1 | TGFb | Breast | DCIS |
TGFB1 | TGFbR1_R2 | TGFB1_TGFBR1_TGFBR2 | TGFb | Breast | IDC |
TGFB1 | TGFbR1_R2 | TGFB1_TGFBR1_TGFBR2 | TGFb | Cervix | CC |
TGFB1 | ACVR1_TGFbR | TGFB1_ACVR1_TGFBR1 | TGFb | Cervix | CC |
TGFB1 | ACVR1B_TGFbR2 | TGFB1_ACVR1B_TGFBR2 | TGFb | CRC | AD |
TGFB1 | TGFbR1_R2 | TGFB1_TGFBR1_TGFBR2 | TGFb | CRC | CRC |
TGFB1 | ACVR1B_TGFbR2 | TGFB1_ACVR1B_TGFBR2 | TGFb | CRC | CRC |
TGFB1 | ACVR1C_TGFbR2 | TGFB1_ACVR1C_TGFBR2 | TGFb | CRC | CRC |
TGFB1 | TGFbR1_R2 | TGFB1_TGFBR1_TGFBR2 | TGFb | CRC | MSI-H |
TGFB1 | ACVR1B_TGFbR2 | TGFB1_ACVR1B_TGFBR2 | TGFb | CRC | MSI-H |
TGFB1 | ACVR1_TGFbR | TGFB1_ACVR1_TGFBR1 | TGFb | CRC | MSI-H |
TGFB1 | TGFbR1_R2 | TGFB1_TGFBR1_TGFBR2 | TGFb | CRC | SER |
TGFB1 | TGFbR1_R2 | TGFB1_TGFBR1_TGFBR2 | TGFb | Endometrium | ADJ |
TGFB1 | TGFbR1_R2 | TGFB1_TGFBR1_TGFBR2 | TGFb | Endometrium | AEH |
TGFB1 | ACVR1B_TGFbR2 | TGFB1_ACVR1B_TGFBR2 | TGFb | Endometrium | AEH |
TGFB1 | TGFbR1_R2 | TGFB1_TGFBR1_TGFBR2 | TGFb | Esophagus | ESCC |
TGFB1 | ACVR1_TGFbR | TGFB1_ACVR1_TGFBR1 | TGFb | Esophagus | ESCC |
TGFB1 | TGFbR1_R2 | TGFB1_TGFBR1_TGFBR2 | TGFb | HNSCC | ADJ |
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Single-cell gene regulatory network inference analysis |
Find out the significant the regulons (TFs) and the target genes of each regulon across cell types for different disease states |
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 |
Annotation of somatic variants for genes involved in malignant transformation |
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 |
TGFB1 | SNV | Missense_Mutation | novel | c.1079N>T | p.Ala360Val | p.A360V | P01137 | protein_coding | tolerated(0.75) | benign(0.001) | TCGA-3C-AAAU-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | zoladex | SD |
TGFB1 | SNV | Missense_Mutation | c.1031A>T | p.Asn344Ile | p.N344I | P01137 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AR-A1AR-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unspecific | Docetaxel | PD | |
TGFB1 | SNV | Missense_Mutation | c.368N>T | p.Lys123Met | p.K123M | P01137 | protein_coding | tolerated(0.12) | possibly_damaging(0.45) | TCGA-AM-5821-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
TGFB1 | SNV | Missense_Mutation | c.1099N>A | p.Val367Met | p.V367M | P01137 | protein_coding | deleterious(0.01) | probably_damaging(0.989) | TCGA-CK-4951-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
TGFB1 | SNV | Missense_Mutation | c.829N>T | p.Arg277Cys | p.R277C | P01137 | protein_coding | deleterious(0) | probably_damaging(0.961) | TCGA-CK-5913-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
TGFB1 | SNV | Missense_Mutation | c.727N>A | p.Arg243Ser | p.R243S | P01137 | protein_coding | tolerated(0.77) | benign(0.428) | TCGA-NH-A5IV-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
TGFB1 | SNV | Missense_Mutation | rs142642007 | c.442N>A | p.Val148Met | p.V148M | P01137 | protein_coding | tolerated(0.12) | benign(0.01) | TCGA-SS-A7HO-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | oxaliplatin | PD |
TGFB1 | SNV | Missense_Mutation | c.883N>A | p.Val295Met | p.V295M | P01137 | protein_coding | deleterious(0) | probably_damaging(0.992) | TCGA-AH-6544-01 | Colorectum | rectum adenocarcinoma | Male | <65 | III/IV | Chemotherapy | oxaliplatin | SD | |
TGFB1 | SNV | Missense_Mutation | rs201327622 | c.661G>A | p.Ala221Thr | p.A221T | P01137 | protein_coding | tolerated(0.17) | benign(0.034) | TCGA-A5-A2K5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TGFB1 | SNV | Missense_Mutation | c.248N>T | p.Ser83Ile | p.S83I | P01137 | protein_coding | deleterious(0) | possibly_damaging(0.706) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
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Related drugs of malignant transformation related genes |
Identification of chemicals and drugs interact with genes involved in malignant transfromation |
(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
7040 | TGFB1 | TRANSCRIPTION FACTOR, DRUGGABLE GENOME, CELL SURFACE, GROWTH FACTOR | Disitertide | DISITERTIDE | 24393789 | |
7040 | TGFB1 | TRANSCRIPTION FACTOR, DRUGGABLE GENOME, CELL SURFACE, GROWTH FACTOR | ANTIOXIDANT | 12221586 | ||
7040 | TGFB1 | TRANSCRIPTION FACTOR, DRUGGABLE GENOME, CELL SURFACE, GROWTH FACTOR | Pirfenidone | PIRFENIDONE | ||
7040 | TGFB1 | TRANSCRIPTION FACTOR, DRUGGABLE GENOME, CELL SURFACE, GROWTH FACTOR | VERAPAMIL | VERAPAMIL | ||
7040 | TGFB1 | TRANSCRIPTION FACTOR, DRUGGABLE GENOME, CELL SURFACE, GROWTH FACTOR | TOREMIFENE | TOREMIFENE | 12476040 | |
7040 | TGFB1 | TRANSCRIPTION FACTOR, DRUGGABLE GENOME, CELL SURFACE, GROWTH FACTOR | TAMOXIFEN | TAMOXIFEN | 8019941 | |
7040 | TGFB1 | TRANSCRIPTION FACTOR, DRUGGABLE GENOME, CELL SURFACE, GROWTH FACTOR | BRDU | 10495776 | ||
7040 | TGFB1 | TRANSCRIPTION FACTOR, DRUGGABLE GENOME, CELL SURFACE, GROWTH FACTOR | PIRFENIDONE | PIRFENIDONE | 12907346 | |
7040 | TGFB1 | TRANSCRIPTION FACTOR, DRUGGABLE GENOME, CELL SURFACE, GROWTH FACTOR | TRIAMCINOLONE | TRIAMCINOLONE | 12174062 | |
7040 | TGFB1 | TRANSCRIPTION FACTOR, DRUGGABLE GENOME, CELL SURFACE, GROWTH FACTOR | BOVINE CARTILAGE | 12525389 |
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