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Gene: SMAD2 |
Gene summary for SMAD2 |
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Gene information | Species | Human | Gene symbol | SMAD2 | Gene ID | 4087 |
Gene name | SMAD family member 2 | |
Gene Alias | JV18 | |
Cytomap | 18q21.1 | |
Gene Type | protein-coding | GO ID | GO:0000578 | UniProtAcc | Q15796 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
4087 | SMAD2 | HTA11_3410_2000001011 | Human | Colorectum | AD | 1.22e-27 | -7.62e-01 | 0.0155 |
4087 | SMAD2 | HTA11_2487_2000001011 | Human | Colorectum | SER | 5.69e-06 | -5.35e-01 | -0.1808 |
4087 | SMAD2 | HTA11_2951_2000001011 | Human | Colorectum | AD | 1.15e-04 | -8.75e-01 | 0.0216 |
4087 | SMAD2 | HTA11_3361_2000001011 | Human | Colorectum | AD | 3.30e-12 | -7.62e-01 | -0.1207 |
4087 | SMAD2 | HTA11_83_2000001011 | Human | Colorectum | SER | 5.00e-05 | -5.68e-01 | -0.1526 |
4087 | SMAD2 | HTA11_696_2000001011 | Human | Colorectum | AD | 7.33e-20 | -5.97e-01 | -0.1464 |
4087 | SMAD2 | HTA11_866_2000001011 | Human | Colorectum | AD | 4.22e-16 | -5.56e-01 | -0.1001 |
4087 | SMAD2 | HTA11_1391_2000001011 | Human | Colorectum | AD | 8.33e-07 | -5.07e-01 | -0.059 |
4087 | SMAD2 | HTA11_5216_2000001011 | Human | Colorectum | SER | 1.07e-03 | -7.82e-01 | -0.1462 |
4087 | SMAD2 | HTA11_7862_2000001011 | Human | Colorectum | AD | 3.35e-02 | -4.18e-01 | -0.0179 |
4087 | SMAD2 | HTA11_866_3004761011 | Human | Colorectum | AD | 2.09e-08 | -5.55e-01 | 0.096 |
4087 | SMAD2 | HTA11_4255_2000001011 | Human | Colorectum | SER | 2.11e-03 | -7.23e-01 | 0.0446 |
4087 | SMAD2 | HTA11_9408_2000001011 | Human | Colorectum | AD | 7.57e-03 | -8.53e-01 | 0.0451 |
4087 | SMAD2 | HTA11_8622_2000001021 | Human | Colorectum | SER | 4.80e-07 | -8.35e-01 | 0.0528 |
4087 | SMAD2 | HTA11_10623_2000001011 | Human | Colorectum | AD | 2.54e-02 | -6.05e-01 | -0.0177 |
4087 | SMAD2 | HTA11_10711_2000001011 | Human | Colorectum | AD | 2.55e-12 | -7.17e-01 | 0.0338 |
4087 | SMAD2 | HTA11_7696_3000711011 | Human | Colorectum | AD | 7.41e-28 | -7.10e-01 | 0.0674 |
4087 | SMAD2 | HTA11_6818_2000001011 | Human | Colorectum | AD | 1.31e-02 | -6.32e-01 | 0.0112 |
4087 | SMAD2 | HTA11_11156_2000001011 | Human | Colorectum | AD | 3.40e-02 | -8.79e-01 | 0.0397 |
4087 | SMAD2 | HTA11_6818_2000001021 | Human | Colorectum | AD | 2.25e-03 | -5.26e-01 | 0.0588 |
Page: 1 2 3 4 5 6 7 8 9 10 |
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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:00355923 | Colorectum | FAP | establishment of protein localization to extracellular region | 79/2622 | 360/18723 | 2.48e-05 | 5.77e-04 | 79 |
GO:00342844 | Colorectum | FAP | response to monosaccharide | 54/2622 | 225/18723 | 3.84e-05 | 8.22e-04 | 54 |
GO:00351962 | Colorectum | FAP | production of miRNAs involved in gene silencing by miRNA | 19/2622 | 52/18723 | 4.16e-05 | 8.78e-04 | 19 |
GO:00716923 | Colorectum | FAP | protein localization to extracellular region | 79/2622 | 368/18723 | 5.50e-05 | 1.10e-03 | 79 |
GO:00097494 | Colorectum | FAP | response to glucose | 51/2622 | 212/18723 | 5.82e-05 | 1.15e-03 | 51 |
GO:00097464 | Colorectum | FAP | response to hexose | 52/2622 | 219/18723 | 7.13e-05 | 1.32e-03 | 52 |
GO:00310502 | Colorectum | FAP | dsRNA processing | 19/2622 | 54/18723 | 7.56e-05 | 1.37e-03 | 19 |
GO:00709182 | Colorectum | FAP | production of small RNA involved in gene silencing by RNA | 19/2622 | 54/18723 | 7.56e-05 | 1.37e-03 | 19 |
GO:0023061 | Colorectum | FAP | signal release | 94/2622 | 463/18723 | 1.06e-04 | 1.76e-03 | 94 |
GO:00720732 | Colorectum | FAP | kidney epithelium development | 35/2622 | 136/18723 | 2.03e-04 | 2.92e-03 | 35 |
GO:00300733 | Colorectum | FAP | insulin secretion | 46/2622 | 195/18723 | 2.12e-04 | 3.03e-03 | 46 |
GO:00603951 | Colorectum | FAP | SMAD protein signal transduction | 24/2622 | 82/18723 | 2.55e-04 | 3.51e-03 | 24 |
GO:00158333 | Colorectum | FAP | peptide transport | 58/2622 | 264/18723 | 2.71e-04 | 3.64e-03 | 58 |
GO:00016551 | Colorectum | FAP | urogenital system development | 70/2622 | 338/18723 | 4.26e-04 | 5.11e-03 | 70 |
GO:00097913 | Colorectum | FAP | post-embryonic development | 23/2622 | 80/18723 | 4.51e-04 | 5.32e-03 | 23 |
GO:00973053 | Colorectum | FAP | response to alcohol | 55/2622 | 253/18723 | 5.05e-04 | 5.78e-03 | 55 |
GO:00487621 | Colorectum | FAP | mesenchymal cell differentiation | 52/2622 | 236/18723 | 5.08e-04 | 5.80e-03 | 52 |
GO:0072001 | Colorectum | FAP | renal system development | 63/2622 | 302/18723 | 6.59e-04 | 7.19e-03 | 63 |
GO:0001822 | Colorectum | FAP | kidney development | 61/2622 | 293/18723 | 8.38e-04 | 8.72e-03 | 61 |
GO:00073692 | Colorectum | FAP | gastrulation | 42/2622 | 185/18723 | 8.97e-04 | 9.10e-03 | 42 |
Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 |
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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 |
hsa04144 | Colorectum | AD | Endocytosis | 111/2092 | 251/8465 | 5.95e-12 | 1.42e-10 | 9.08e-11 | 111 |
hsa05210 | Colorectum | AD | Colorectal cancer | 35/2092 | 86/8465 | 7.54e-04 | 5.49e-03 | 3.50e-03 | 35 |
hsa05205 | Colorectum | AD | Proteoglycans in cancer | 70/2092 | 205/8465 | 1.37e-03 | 8.46e-03 | 5.39e-03 | 70 |
hsa05225 | Colorectum | AD | Hepatocellular carcinoma | 59/2092 | 168/8465 | 1.50e-03 | 8.69e-03 | 5.54e-03 | 59 |
hsa05166 | Colorectum | AD | Human T-cell leukemia virus 1 infection | 72/2092 | 222/8465 | 5.24e-03 | 2.44e-02 | 1.55e-02 | 72 |
hsa04218 | Colorectum | AD | Cellular senescence | 53/2092 | 156/8465 | 5.55e-03 | 2.48e-02 | 1.58e-02 | 53 |
hsa05212 | Colorectum | AD | Pancreatic cancer | 29/2092 | 76/8465 | 6.25e-03 | 2.68e-02 | 1.71e-02 | 29 |
hsa054151 | Colorectum | AD | Diabetic cardiomyopathy | 114/2092 | 203/8465 | 3.65e-22 | 3.06e-20 | 1.95e-20 | 114 |
hsa041441 | Colorectum | AD | Endocytosis | 111/2092 | 251/8465 | 5.95e-12 | 1.42e-10 | 9.08e-11 | 111 |
hsa052101 | Colorectum | AD | Colorectal cancer | 35/2092 | 86/8465 | 7.54e-04 | 5.49e-03 | 3.50e-03 | 35 |
hsa052051 | Colorectum | AD | Proteoglycans in cancer | 70/2092 | 205/8465 | 1.37e-03 | 8.46e-03 | 5.39e-03 | 70 |
hsa052251 | Colorectum | AD | Hepatocellular carcinoma | 59/2092 | 168/8465 | 1.50e-03 | 8.69e-03 | 5.54e-03 | 59 |
hsa051661 | Colorectum | AD | Human T-cell leukemia virus 1 infection | 72/2092 | 222/8465 | 5.24e-03 | 2.44e-02 | 1.55e-02 | 72 |
hsa042181 | Colorectum | AD | Cellular senescence | 53/2092 | 156/8465 | 5.55e-03 | 2.48e-02 | 1.58e-02 | 53 |
hsa052121 | Colorectum | AD | Pancreatic cancer | 29/2092 | 76/8465 | 6.25e-03 | 2.68e-02 | 1.71e-02 | 29 |
hsa054152 | Colorectum | SER | Diabetic cardiomyopathy | 103/1580 | 203/8465 | 1.45e-25 | 1.61e-23 | 1.17e-23 | 103 |
hsa041442 | Colorectum | SER | Endocytosis | 81/1580 | 251/8465 | 1.14e-07 | 2.36e-06 | 1.71e-06 | 81 |
hsa052052 | Colorectum | SER | Proteoglycans in cancer | 58/1580 | 205/8465 | 4.37e-04 | 3.82e-03 | 2.77e-03 | 58 |
hsa04350 | Colorectum | SER | TGF-beta signaling pathway | 31/1580 | 108/8465 | 7.00e-03 | 3.77e-02 | 2.74e-02 | 31 |
Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 |
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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 |
SMAD2 | SNV | Missense_Mutation | c.433N>T | p.Ala145Ser | p.A145S | Q15796 | protein_coding | tolerated(0.33) | possibly_damaging(0.51) | TCGA-A8-A07R-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Ancillary | zoledronic | SD | |
SMAD2 | SNV | Missense_Mutation | c.1324N>G | p.Leu442Val | p.L442V | Q15796 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A8-A093-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | |
SMAD2 | SNV | Missense_Mutation | novel | c.159N>T | p.Lys53Asn | p.K53N | Q15796 | protein_coding | deleterious(0.01) | probably_damaging(0.999) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SMAD2 | SNV | Missense_Mutation | c.933C>G | p.Phe311Leu | p.F311L | Q15796 | protein_coding | deleterious(0.01) | probably_damaging(1) | TCGA-C8-A274-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | |
SMAD2 | SNV | Missense_Mutation | c.1067N>G | p.Phe356Cys | p.F356C | Q15796 | protein_coding | deleterious(0.01) | probably_damaging(0.999) | TCGA-E2-A152-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Targeted Molecular therapy | trastuzumab | PD | |
SMAD2 | insertion | Frame_Shift_Ins | novel | c.430_431insTTTTCTTTTGC | p.Lys144IlefsTer23 | p.K144Ifs*23 | Q15796 | protein_coding | TCGA-A8-A07R-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Ancillary | zoledronic | SD | ||
SMAD2 | SNV | Missense_Mutation | novel | c.163N>G | p.Thr55Ala | p.T55A | Q15796 | protein_coding | tolerated(0.14) | possibly_damaging(0.491) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
SMAD2 | SNV | Missense_Mutation | c.962G>A | p.Arg321Gln | p.R321Q | Q15796 | protein_coding | deleterious(0.03) | probably_damaging(1) | TCGA-A6-A565-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Unspecific | 5FU | PD | |
SMAD2 | SNV | Missense_Mutation | c.1283G>A | p.Arg428Lys | p.R428K | Q15796 | protein_coding | deleterious(0) | probably_damaging(0.936) | TCGA-AA-3663-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
SMAD2 | SNV | Missense_Mutation | c.914N>A | p.Pro305Gln | p.P305Q | Q15796 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AA-3864-01 | Colorectum | colon adenocarcinoma | 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 |
4087 | SMAD2 | KINASE, CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX | GERANIIN | GERANIIN | 26169124 | |
4087 | SMAD2 | KINASE, CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX | DEMETHOXYCURCUMIN | DEMETHOXYCURCUMIN | 23145932 | |
4087 | SMAD2 | KINASE, CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX | ATRA | TRETINOIN | 15799023 | |
4087 | SMAD2 | KINASE, CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX | BLEOMYCIN | BLEOMYCIN | 17274978 | |
4087 | SMAD2 | KINASE, CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX | BISDEMETHOXYCURCUMIN | BISDEMETHOXYCURCUMIN | 23145932 | |
4087 | SMAD2 | KINASE, CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX | HYDROCORTISONE | HYDROCORTISONE | 16644034 | |
4087 | SMAD2 | KINASE, CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX | BLM | BLEOMYCIN | 17274978 | |
4087 | SMAD2 | KINASE, CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX | AMIFOSTINE | AMIFOSTINE | 12410567 | |
4087 | SMAD2 | KINASE, CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX | CURCUMIN | CURCUMIN | 23145932 |
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