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Gene: SMAD1 |
Gene summary for SMAD1 |
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Gene information | Species | Human | Gene symbol | SMAD1 | Gene ID | 4086 |
Gene name | SMAD family member 1 | |
Gene Alias | BSP-1 | |
Cytomap | 4q31.21 | |
Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | Q15797 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
4086 | SMAD1 | P128T-E | Human | Esophagus | ESCC | 1.47e-42 | 1.35e+00 | 0.1241 |
4086 | SMAD1 | P130T-E | Human | Esophagus | ESCC | 3.34e-32 | 7.82e-01 | 0.1676 |
4086 | SMAD1 | C21 | Human | Oral cavity | OSCC | 5.81e-08 | 4.31e-01 | 0.2678 |
4086 | SMAD1 | C30 | Human | Oral cavity | OSCC | 7.44e-10 | 5.05e-01 | 0.3055 |
4086 | SMAD1 | C43 | Human | Oral cavity | OSCC | 3.10e-11 | 3.33e-01 | 0.1704 |
4086 | SMAD1 | C46 | Human | Oral cavity | OSCC | 1.32e-16 | 4.32e-01 | 0.1673 |
4086 | SMAD1 | C08 | Human | Oral cavity | OSCC | 3.87e-16 | 4.15e-01 | 0.1919 |
4086 | SMAD1 | LN46 | Human | Oral cavity | OSCC | 5.49e-09 | 5.45e-01 | 0.1666 |
4086 | SMAD1 | SYSMH1 | Human | Oral cavity | OSCC | 2.68e-11 | 2.37e-01 | 0.1127 |
4086 | SMAD1 | SYSMH2 | Human | Oral cavity | OSCC | 1.01e-07 | 2.23e-01 | 0.2326 |
4086 | SMAD1 | SYSMH3 | Human | Oral cavity | OSCC | 7.26e-11 | 3.21e-01 | 0.2442 |
4086 | SMAD1 | SYSMH4 | Human | Oral cavity | OSCC | 2.09e-11 | 1.65e-01 | 0.1226 |
4086 | SMAD1 | SYSMH5 | Human | Oral cavity | OSCC | 1.52e-04 | 1.18e-01 | 0.0647 |
4086 | SMAD1 | SYSMH6 | Human | Oral cavity | OSCC | 1.06e-02 | 1.90e-01 | 0.1275 |
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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). |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:003447015 | Esophagus | ESCC | ncRNA processing | 300/8552 | 395/18723 | 3.09e-35 | 3.26e-32 | 300 |
GO:003466012 | Esophagus | ESCC | ncRNA metabolic process | 346/8552 | 485/18723 | 4.35e-31 | 2.51e-28 | 346 |
GO:00715599 | Esophagus | ESCC | response to transforming growth factor beta | 157/8552 | 256/18723 | 2.95e-07 | 4.23e-06 | 157 |
GO:000164918 | Esophagus | ESCC | osteoblast differentiation | 140/8552 | 229/18723 | 1.63e-06 | 1.95e-05 | 140 |
GO:00715609 | Esophagus | ESCC | cellular response to transforming growth factor beta stimulus | 151/8552 | 250/18723 | 1.78e-06 | 2.10e-05 | 151 |
GO:000150317 | Esophagus | ESCC | ossification | 232/8552 | 408/18723 | 3.00e-06 | 3.40e-05 | 232 |
GO:00073698 | Esophagus | ESCC | gastrulation | 115/8552 | 185/18723 | 4.35e-06 | 4.64e-05 | 115 |
GO:00071799 | Esophagus | ESCC | transforming growth factor beta receptor signaling pathway | 121/8552 | 198/18723 | 8.26e-06 | 8.03e-05 | 121 |
GO:00351969 | Esophagus | ESCC | production of miRNAs involved in gene silencing by miRNA | 37/8552 | 52/18723 | 1.75e-04 | 1.14e-03 | 37 |
GO:00310508 | Esophagus | ESCC | dsRNA processing | 38/8552 | 54/18723 | 2.08e-04 | 1.31e-03 | 38 |
GO:00709188 | Esophagus | ESCC | production of small RNA involved in gene silencing by RNA | 38/8552 | 54/18723 | 2.08e-04 | 1.31e-03 | 38 |
GO:00017044 | Esophagus | ESCC | formation of primary germ layer | 75/8552 | 121/18723 | 2.17e-04 | 1.36e-03 | 75 |
GO:003090118 | Esophagus | ESCC | midbrain development | 58/8552 | 90/18723 | 2.52e-04 | 1.55e-03 | 58 |
GO:000717810 | Esophagus | ESCC | transmembrane receptor protein serine/threonine kinase signaling pathway | 195/8552 | 355/18723 | 2.58e-04 | 1.58e-03 | 195 |
GO:19015225 | Esophagus | ESCC | positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus | 18/8552 | 22/18723 | 5.69e-04 | 3.10e-03 | 18 |
GO:00603485 | Esophagus | ESCC | bone development | 115/8552 | 205/18723 | 1.67e-03 | 7.72e-03 | 115 |
GO:00456675 | Esophagus | ESCC | regulation of osteoblast differentiation | 77/8552 | 132/18723 | 2.28e-03 | 1.00e-02 | 77 |
GO:006053716 | Esophagus | ESCC | muscle tissue development | 211/8552 | 403/18723 | 3.84e-03 | 1.56e-02 | 211 |
GO:00456695 | Esophagus | ESCC | positive regulation of osteoblast differentiation | 43/8552 | 69/18723 | 3.93e-03 | 1.59e-02 | 43 |
GO:003105311 | Esophagus | ESCC | primary miRNA processing | 11/8552 | 13/18723 | 4.76e-03 | 1.85e-02 | 11 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa043507 | Esophagus | ESCC | TGF-beta signaling pathway | 69/4205 | 108/8465 | 1.92e-03 | 5.54e-03 | 2.84e-03 | 69 |
hsa052028 | Esophagus | ESCC | Transcriptional misregulation in cancer | 116/4205 | 193/8465 | 2.08e-03 | 5.95e-03 | 3.05e-03 | 116 |
hsa0439018 | Esophagus | ESCC | Hippo signaling pathway | 92/4205 | 157/8465 | 1.46e-02 | 3.31e-02 | 1.69e-02 | 92 |
hsa0435014 | Esophagus | ESCC | TGF-beta signaling pathway | 69/4205 | 108/8465 | 1.92e-03 | 5.54e-03 | 2.84e-03 | 69 |
hsa0520213 | Esophagus | ESCC | Transcriptional misregulation in cancer | 116/4205 | 193/8465 | 2.08e-03 | 5.95e-03 | 3.05e-03 | 116 |
hsa0439019 | Esophagus | ESCC | Hippo signaling pathway | 92/4205 | 157/8465 | 1.46e-02 | 3.31e-02 | 1.69e-02 | 92 |
hsa0439016 | Oral cavity | OSCC | Hippo signaling pathway | 86/3704 | 157/8465 | 3.30e-03 | 8.24e-03 | 4.20e-03 | 86 |
hsa043506 | Oral cavity | OSCC | TGF-beta signaling pathway | 60/3704 | 108/8465 | 8.66e-03 | 1.97e-02 | 1.00e-02 | 60 |
hsa0439017 | Oral cavity | OSCC | Hippo signaling pathway | 86/3704 | 157/8465 | 3.30e-03 | 8.24e-03 | 4.20e-03 | 86 |
hsa0435013 | Oral cavity | OSCC | TGF-beta signaling pathway | 60/3704 | 108/8465 | 8.66e-03 | 1.97e-02 | 1.00e-02 | 60 |
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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 |
SMAD1 | SNV | Missense_Mutation | novel | c.796G>C | p.Glu266Gln | p.E266Q | Q15797 | protein_coding | tolerated(0.59) | benign(0.021) | TCGA-B6-A0WZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
SMAD1 | SNV | Missense_Mutation | c.918G>C | p.Lys306Asn | p.K306N | Q15797 | protein_coding | deleterious(0.04) | benign(0.005) | TCGA-E9-A243-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | PD | |
SMAD1 | SNV | Missense_Mutation | c.508N>A | p.Ala170Thr | p.A170T | Q15797 | protein_coding | tolerated(0.74) | possibly_damaging(0.449) | TCGA-VS-A94Z-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
SMAD1 | SNV | Missense_Mutation | c.857N>T | p.Ala286Val | p.A286V | Q15797 | protein_coding | tolerated(0.19) | benign(0.003) | TCGA-AA-3492-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
SMAD1 | SNV | Missense_Mutation | c.956N>A | p.Arg319Gln | p.R319Q | Q15797 | protein_coding | deleterious(0.03) | possibly_damaging(0.563) | TCGA-AA-A022-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
SMAD1 | SNV | Missense_Mutation | c.302N>G | p.His101Arg | p.H101R | Q15797 | protein_coding | deleterious(0.03) | probably_damaging(0.972) | TCGA-AY-6197-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
SMAD1 | SNV | Missense_Mutation | novel | c.386N>A | p.Arg129Lys | p.R129K | Q15797 | protein_coding | tolerated(0.21) | possibly_damaging(0.718) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
SMAD1 | SNV | Missense_Mutation | rs576994811 | c.743N>T | p.Ala248Val | p.A248V | Q15797 | protein_coding | tolerated(0.62) | benign(0) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
SMAD1 | SNV | Missense_Mutation | rs765987226 | c.1226N>C | p.Met409Thr | p.M409T | Q15797 | protein_coding | deleterious(0) | probably_damaging(0.971) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
SMAD1 | SNV | Missense_Mutation | c.775N>A | p.Asp259Asn | p.D259N | Q15797 | protein_coding | tolerated(0.1) | benign(0.005) | TCGA-CM-5864-01 | 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 |
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