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Gene: SMAD6 |
Gene summary for SMAD6 |
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Gene information | Species | Human | Gene symbol | SMAD6 | Gene ID | 4091 |
Gene name | SMAD family member 6 | |
Gene Alias | AOVD2 | |
Cytomap | 15q22.31 | |
Gene Type | protein-coding | GO ID | GO:0000578 | UniProtAcc | O43541 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
4091 | SMAD6 | HCC2_Meng | Human | Liver | HCC | 9.68e-07 | 7.62e-02 | 0.0107 |
4091 | SMAD6 | HCC1 | Human | Liver | HCC | 3.89e-02 | 1.32e+00 | 0.5336 |
4091 | SMAD6 | S015 | Human | Liver | HCC | 4.59e-04 | 2.04e-01 | 0.2375 |
4091 | SMAD6 | S027 | Human | Liver | HCC | 4.89e-02 | 2.18e-01 | 0.2446 |
4091 | SMAD6 | S028 | Human | Liver | HCC | 5.01e-11 | 4.07e-01 | 0.2503 |
4091 | SMAD6 | S029 | Human | Liver | HCC | 1.41e-12 | 5.69e-01 | 0.2581 |
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Tissue | Expression Dynamics | Abbreviation |
Liver | ![]() | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
∗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:004325422 | Liver | HCC | regulation of protein-containing complex assembly | 264/7958 | 428/18723 | 5.47e-16 | 4.39e-14 | 264 |
GO:001056322 | Liver | HCC | negative regulation of phosphorus metabolic process | 259/7958 | 442/18723 | 4.29e-12 | 1.92e-10 | 259 |
GO:004593622 | Liver | HCC | negative regulation of phosphate metabolic process | 258/7958 | 441/18723 | 6.00e-12 | 2.60e-10 | 258 |
GO:004232622 | Liver | HCC | negative regulation of phosphorylation | 227/7958 | 385/18723 | 3.98e-11 | 1.52e-09 | 227 |
GO:000193322 | Liver | HCC | negative regulation of protein phosphorylation | 196/7958 | 342/18723 | 1.95e-08 | 4.63e-07 | 196 |
GO:003133312 | Liver | HCC | negative regulation of protein-containing complex assembly | 91/7958 | 141/18723 | 1.01e-07 | 1.98e-06 | 91 |
GO:007155921 | Liver | HCC | response to transforming growth factor beta | 141/7958 | 256/18723 | 3.08e-05 | 3.16e-04 | 141 |
GO:007156021 | Liver | HCC | cellular response to transforming growth factor beta stimulus | 137/7958 | 250/18723 | 5.47e-05 | 5.14e-04 | 137 |
GO:003158922 | Liver | HCC | cell-substrate adhesion | 188/7958 | 363/18723 | 2.00e-04 | 1.55e-03 | 188 |
GO:000717921 | Liver | HCC | transforming growth factor beta receptor signaling pathway | 106/7958 | 198/18723 | 1.09e-03 | 6.23e-03 | 106 |
GO:003249611 | Liver | HCC | response to lipopolysaccharide | 174/7958 | 343/18723 | 1.19e-03 | 6.62e-03 | 174 |
GO:006161422 | Liver | HCC | pri-miRNA transcription by RNA polymerase II | 35/7958 | 55/18723 | 1.26e-03 | 6.92e-03 | 35 |
GO:00454441 | Liver | HCC | fat cell differentiation | 120/7958 | 229/18723 | 1.52e-03 | 8.05e-03 | 120 |
GO:190289312 | Liver | HCC | regulation of pri-miRNA transcription by RNA polymerase II | 34/7958 | 54/18723 | 1.92e-03 | 9.78e-03 | 34 |
GO:00016553 | Liver | HCC | urogenital system development | 170/7958 | 338/18723 | 2.15e-03 | 1.08e-02 | 170 |
GO:000223711 | Liver | HCC | response to molecule of bacterial origin | 181/7958 | 363/18723 | 2.58e-03 | 1.24e-02 | 181 |
GO:19038442 | Liver | HCC | regulation of cellular response to transforming growth factor beta stimulus | 72/7958 | 131/18723 | 2.65e-03 | 1.27e-02 | 72 |
GO:00018222 | Liver | HCC | kidney development | 148/7958 | 293/18723 | 3.25e-03 | 1.49e-02 | 148 |
GO:00436271 | Liver | HCC | response to estrogen | 44/7958 | 75/18723 | 3.44e-03 | 1.55e-02 | 44 |
GO:00720012 | Liver | HCC | renal system development | 152/7958 | 302/18723 | 3.45e-03 | 1.56e-02 | 152 |
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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 |
SMAD6 | MVA | Prostate | BPH | BTNL9,PDGFD,FCN3, etc. | 2.06e-01 | ![]() |
SMAD6 | MVA | Thyroid | goiters | SLCO2A1,PLVAP,HPCAL1, etc. | 6.33e-01 | ![]() |
∗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 |
SMAD6 | SNV | Missense_Mutation | novel | c.1043C>T | p.Ala348Val | p.A348V | O43541 | protein_coding | deleterious(0.03) | benign(0.196) | TCGA-BS-A0UF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SMAD6 | SNV | Missense_Mutation | novel | c.1021N>G | p.Thr341Ala | p.T341A | O43541 | protein_coding | deleterious(0) | possibly_damaging(0.779) | TCGA-DI-A1BU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
SMAD6 | SNV | Missense_Mutation | novel | c.1126N>T | p.Arg376Cys | p.R376C | O43541 | protein_coding | deleterious(0) | probably_damaging(0.953) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
SMAD6 | SNV | Missense_Mutation | novel | c.1432N>T | p.Arg478Trp | p.R478W | O43541 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-2Y-A9GU-01 | Liver | liver hepatocellular carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SMAD6 | SNV | Missense_Mutation | novel | c.1306A>T | p.Ile436Phe | p.I436F | O43541 | protein_coding | deleterious(0) | probably_damaging(0.945) | TCGA-55-7907-01 | Lung | lung adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
SMAD6 | SNV | Missense_Mutation | novel | c.1261N>T | p.Gly421Cys | p.G421C | O43541 | protein_coding | tolerated(0.06) | possibly_damaging(0.881) | TCGA-55-8089-01 | Lung | lung adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
SMAD6 | SNV | Missense_Mutation | novel | c.1057G>A | p.Ala353Thr | p.A353T | O43541 | protein_coding | deleterious(0) | benign(0.033) | TCGA-60-2696-01 | Lung | lung squamous cell carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SMAD6 | SNV | Missense_Mutation | novel | c.1333N>A | p.Gly445Ser | p.G445S | O43541 | protein_coding | tolerated(1) | benign(0.003) | TCGA-90-A4ED-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
SMAD6 | SNV | Missense_Mutation | c.1276N>T | p.Val426Phe | p.V426F | O43541 | protein_coding | deleterious(0.02) | benign(0.232) | TCGA-G9-6499-01 | Prostate | prostate adenocarcinoma | Male | >=65 | 9 | Unknown | Unknown | SD | |
SMAD6 | SNV | Missense_Mutation | rs760686075 | c.1268N>A | p.Arg423His | p.R423H | O43541 | protein_coding | deleterious(0) | probably_damaging(0.987) | TCGA-HC-A8CY-01 | Prostate | prostate adenocarcinoma | Male | <65 | 9 | 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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