TF name: | SMAD1 |
TF family: | MH1 |
Ensembl gene ID: | ENSG00000170365 |
Ensembl protein ID: | ENSP00000426568, ENSP00000305769, ENSP00000377652, ENSP00000424959, ENSP00000424649, ENSP00000427002, ENSP00000425270 |
Entrez gene ID: | 4086 |
Sample ID | Biosample type | Tissue type | Biosample name | TF Frequency |
---|---|---|---|---|
Sample_02_314 | Cell line | Neuroblastoma | SK-N-FI | 0.32098765432099 |
Sample ID | Tissue type | Biosample type | Biosample name |
---|
rsID | Chr | Start | Stop | Ref | Alt | Gene_region | Gene_symble | Effect | TCGA_Occurrence |
---|---|---|---|---|---|---|---|---|---|
- | chr4 | 146436069 | 146436069 | G | T | exonic | SMAD1 | stopgain | BLCA|1|396|0.00253 |
- | chr4 | 146436067 | 146436067 | A | G | exonic | SMAD1 | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr4 | 146461145 | 146461145 | G | T | exonic | SMAD1 | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr4 | 146463850 | 146463850 | G | A | exonic | SMAD1 | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr4 | 146461063 | 146461063 | G | A | exonic | SMAD1 | nonsynonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr4 | 146467983 | 146467983 | C | T | exonic | SMAD1 | nonsynonymous | SKCM|1|368|0.00272 |
- | chr4 | 146475083 | 146475083 | T | A | exonic | SMAD1 | nonsynonymous | GBMLGG|1|820|0.00122,LGG|1|530|0.00189 |
- | chr4 | 146467936 | 146467936 | C | T | exonic | SMAD1 | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
rs773218247 | chr4 | 146435948 | 146435948 | G | A | exonic | SMAD1 | synonymous | CESC|1|194|0.00515 |
- | chr4 | 146435880 | 146435880 | A | - | exonic | SMAD1 | frameshift | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr4 | 146460985 | 146460985 | A | G | exonic | SMAD1 | nonsynonymous | UCEC|1|248|0.00403 |
- | chr4 | 146467907 | 146467907 | C | T | exonic | SMAD1 | synonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr4 | 146463769 | 146463769 | G | C | exonic | SMAD1 | nonsynonymous | LUAD|1|543|0.00184 |
- | chr4 | 146467997 | 146467997 | G | C | exonic | SMAD1 | nonsynonymous | BRCA|1|982|0.00102 |
- | chr4 | 146479017 | 146479017 | C | T | exonic | SMAD1 | synonymous | LUSC|1|178|0.00562 |
- | chr4 | 146460988 | 146460988 | G | A | exonic | SMAD1 | nonsynonymous | SKCM|1|368|0.00272 |
- | chr4 | 146436166 | 146436166 | G | T | splicing | SMAD1 | splicing | LUSC|1|178|0.00562 |
- | chr4 | 146475128 | 146475128 | A | G | exonic | SMAD1 | nonsynonymous | LUAD|1|543|0.00184 |
- | chr4 | 146479012 | 146479012 | G | T | exonic | SMAD1 | nonsynonymous | LUAD|1|543|0.00184 |
- | chr4 | 146463793 | 146463793 | C | T | exonic | SMAD1 | stopgain | BLCA|1|396|0.00253 |
- | chr4 | 146435868 | 146435868 | G | A | exonic | SMAD1 | nonsynonymous | BLCA|1|396|0.00253 |
rs373113912 | chr4 | 146435834 | 146435834 | C | T | exonic | SMAD1 | synonymous | UCEC|1|248|0.00403 |
- | chr4 | 146474982 | 146474982 | - | A | exonic | SMAD1 | frameshift | GBMLGG|1|820|0.00122,LGG|1|530|0.00189 |
- | chr4 | 146468035 | 146468035 | G | A | exonic | SMAD1 | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr4 | 146468031 | 146468031 | A | G | exonic | SMAD1 | nonsynonymous | STAD|2|395|0.00506,STES|2|395|0.00506 |
- | chr4 | 146436032 | 146436032 | C | T | exonic | SMAD1 | synonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr4 | 146475083 | 146475083 | T | - | exonic | SMAD1 | frameshift | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr4 | 146435774 | 146435774 | G | A | exonic | SMAD1 | synonymous | ACC|1|90|0.01111 |
- | chr4 | 146478948 | 146478948 | G | C | exonic | SMAD1 | nonsynonymous | OV|1|469|0.00213 |
rs576994811 | chr4 | 146463818 | 146463818 | C | T | exonic | SMAD1 | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr4 | 146436151 | 146436151 | G | A | exonic | SMAD1 | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr4 | 146461204 | 146461204 | C | T | exonic | SMAD1 | stopgain | SKCM|1|368|0.00272 |
- | chr4 | 146467854 | 146467854 | G | C | splicing | SMAD1 | splicing | LUAD|1|543|0.00184 |
rs766290015 | chr4 | 146460987 | 146460987 | C | T | exonic | SMAD1 | synonymous | HNSC|1|512|0.00195 |
rs752874837 | chr4 | 146463741 | 146463741 | G | A | exonic | SMAD1 | synonymous | UCEC|1|248|0.00403 |
- | chr4 | 146435885 | 146435885 | A | G | exonic | SMAD1 | synonymous | COADREAD|1|489|0.00204,READ|1|122|0.00820 |
- | chr4 | 146460992 | 146460992 | A | G | exonic | SMAD1 | nonsynonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr4 | 146467854 | 146467854 | G | A | splicing | SMAD1 | splicing | HNSC|1|512|0.00195 |
- | chr4 | 146475180 | 146475180 | G | C | exonic | SMAD1 | nonsynonymous | BLCA|1|396|0.00253 |
- | chr4 | 146463845 | 146463845 | G | A | exonic | SMAD1 | nonsynonymous | LUAD|1|543|0.00184,SKCM|1|368|0.00272 |
rs769453113 | chr4 | 146435831 | 146435831 | G | A | exonic | SMAD1 | synonymous | ESCA|1|185|0.00541 |
- | chr4 | 146467968 | 146467968 | G | A | exonic | SMAD1 | nonsynonymous | BLCA|1|396|0.00253 |
- | chr4 | 146475004 | 146475004 | C | T | exonic | SMAD1 | stopgain | SKCM|1|368|0.00272 |
rs372397852 | chr4 | 146474973 | 146474973 | C | T | exonic | SMAD1 | synonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr4 | 146475175 | 146475175 | C | T | exonic | SMAD1 | nonsynonymous | UCEC|1|248|0.00403 |
- | chr4 | 146475084 | 146475084 | T | G | exonic | SMAD1 | nonsynonymous | KIPAN|1|799|0.00125,KIRP|1|282|0.00355 |
- | chr4 | 146479006 | 146479006 | C | G | exonic | SMAD1 | nonsynonymous | LUSC|1|178|0.00562 |
- | chr4 | 146435905 | 146435905 | C | T | exonic | SMAD1 | nonsynonymous | GBMLGG|1|820|0.00122,LGG|1|530|0.00189 |
rs765987226 | chr4 | 146475164 | 146475164 | T | C | exonic | SMAD1 | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr4 | 146475147 | 146475147 | C | T | exonic | SMAD1 | synonymous | BRCA|1|982|0.00102 |
- | chr4 | 146435852 | 146435852 | G | A | exonic | SMAD1 | stopgain | HNSC|2|512|0.00391 |
- | chr4 | 146467880 | 146467880 | A | G | exonic | SMAD1 | synonymous | BRCA|1|982|0.00102 |
- | chr4 | 146474941 | 146474941 | C | A | exonic | SMAD1 | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr4 | 146463737 | 146463737 | A | G | exonic | SMAD1 | nonsynonymous | LUAD|1|543|0.00184 |
rs747747846 | chr4 | 146463798 | 146463798 | G | A | exonic | SMAD1 | synonymous | KIPAN|1|799|0.00125,KIRP|1|282|0.00355 |
- | chr4 | 146461025 | 146461025 | - | T | exonic | SMAD1 | frameshift | LUAD|1|543|0.00184 |
- | chr4 | 146468016 | 146468016 | C | T | exonic | SMAD1 | synonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
rs370506404 | chr4 | 146435947 | 146435947 | C | T | exonic | SMAD1 | nonsynonymous | GBMLGG|1|820|0.00122,LGG|1|530|0.00189 |
- | chr4 | 146435880 | 146435880 | A | G | exonic | SMAD1 | nonsynonymous | SKCM|1|368|0.00272 |
- | chr4 | 146461008 | 146461008 | C | T | exonic | SMAD1 | synonymous | UCEC|1|248|0.00403 |
- | chr4 | 146436153 | 146436153 | G | T | exonic | SMAD1 | nonsynonymous | CESC|1|194|0.00515 |
- | chr4 | 146460970 | 146460970 | C | G | exonic | SMAD1 | nonsynonymous | HNSC|1|512|0.00195 |
rs746555376 | chr4 | 146463782 | 146463782 | A | G | exonic | SMAD1 | nonsynonymous | BLCA|1|396|0.00253 |
- | chr4 | 146461124 | 146461124 | G | C | exonic | SMAD1 | nonsynonymous | LUSC|1|178|0.00562 |
TF_name | Disease_name | Disease_class | Disease_semantic_type | TF_disease_source |
---|---|---|---|---|
SMAD1 | Pulmonary arterial hypertension | Disease or Syndrome | GENOMICS_ENGLAND | |
SMAD1 | Idiopathic pulmonary arterial hypertension | C08 | Disease or Syndrome | GENOMICS_ENGLAND |
pathway_ID | pathway_name | pathway_source | gene_number | edge_number |
---|---|---|---|---|
pathway0000135 | ALK1 signaling events | pid | 26 | 204 |
pathway0000136 | ALK2 signaling events | pid | 11 | 35 |
pathway0000317 | BMP receptor signaling | pid | 42 | 280 |
pathway0000321 | BMP signaling pathway ( TGF-beta_BMP Diagram(MolecularVariation) ) | inoh | 34 | 385 |
pathway0000323 | BMP2 signaling pathway(through Smad) ( TGF-beta_BMP Diagram(MolecularVariation) ) | inoh | 13 | 47 |
pathway0000897 | Gene expression of smad6/7 by R-smad:smad4 ( TGF-beta_super_family_signaling_pathway(canonical) ) | inoh | 8 | 27 |
pathway0000898 | Gene expression of smad7 by R-smad:smad4 ( TGF-beta_super_family_signaling_pathway(canonical) ) | inoh | 7 | 20 |
pathway0000994 | Hedgehog | netpath | 39 | 177 |
pathway0001279 | LIF signaling pathway ( LIF signaling(JAK1 JAK2 STAT3) ) | inoh | 10 | 29 |
pathway0001452 | Negative regulation of (nuclear import of R-smad:smad4) in TGF beta super family signaling pathway ( TGF-beta_super_family_signaling_pathway(canonical) ) | inoh | 11 | 26 |
pathway0001455 | Negative regulation of (transcription by R-smad:smad4) in TGF beta super family signaling pathway ( TGF-beta_super_family_signaling_pathway(canonical) ) | inoh | 21 | 184 |
pathway0002009 | Signaling by BMP | reactome | 23 | 122 |
pathway0002218 | TGF-beta_super_family_signaling_pathway(canonical) ( TGF-beta_BMP Diagram(MolecularVariation) ) | inoh | 51 | 970 |
pathway0002591 | TGF-beta signaling pathway | kegg | 82 | 1017 |
pathway0002747 | Hs_Neural_Crest_Differentiation_WP2064_79263 | wikipathways | 40 | 129 |
pathway0002768 | Hs_Heart_Development_WP1591_90186 | wikipathways | 28 | 78 |
pathway0002770 | Hs_Bone_Morphogenic_Protein_(BMP)_Signalling_and_Regulation_WP1425_86082 | wikipathways | 6 | 10 |
pathway0002792 | Hs_G13_Signaling_Pathway_WP524_72112 | wikipathways | 18 | 18 |
pathway0002826 | Hs_Mesodermal_Commitment_Pathway_WP2857_87780 | wikipathways | 47 | 175 |
GO_term_name | GO_term_type | TF_name |
---|---|---|
GO_SMAD_PROTEIN_SIGNAL_TRANSDUCTION | BP | SMAD1 |
GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS | BP | SMAD1 |
GO_REGULATION_OF_CARTILAGE_DEVELOPMENT | BP | SMAD1 |
GO_TISSUE_MORPHOGENESIS | BP | SMAD1 |
GO_SKELETAL_SYSTEM_DEVELOPMENT | BP | SMAD1 |
GO_KIDNEY_EPITHELIUM_DEVELOPMENT | BP | SMAD1 |
GO_MUSCLE_CELL_PROLIFERATION | BP | SMAD1 |
GO_NEGATIVE_REGULATION_OF_CELLULAR_AMIDE_METABOLIC_PROCESS | BP | SMAD1 |
GO_CELL_FATE_COMMITMENT_INVOLVED_IN_FORMATION_OF_PRIMARY_GERM_LAYER | BP | SMAD1 |
GO_EMBRYONIC_PATTERN_SPECIFICATION | BP | SMAD1 |
GO_MIDBRAIN_DEVELOPMENT | BP | SMAD1 |
GO_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS | BP | SMAD1 |
GO_RESPONSE_TO_ORGANIC_CYCLIC_COMPOUND | BP | SMAD1 |
GO_NCRNA_METABOLIC_PROCESS | BP | SMAD1 |
GO_ORGAN_GROWTH | BP | SMAD1 |
GO_GASTRULATION | BP | SMAD1 |
GO_MESODERM_MORPHOGENESIS | BP | SMAD1 |
GO_POSITIVE_REGULATION_OF_CARTILAGE_DEVELOPMENT | BP | SMAD1 |
GO_TRANSFORMING_GROWTH_FACTOR_BETA_RECEPTOR_SIGNALING_PATHWAY | BP | SMAD1 |
GO_MESODERMAL_CELL_DIFFERENTIATION | BP | SMAD1 |
GO_REGULATION_OF_OSTEOBLAST_DIFFERENTIATION | BP | SMAD1 |
GO_POSTTRANSCRIPTIONAL_GENE_SILENCING | BP | SMAD1 |
GO_CELLULAR_RESPONSE_TO_DSRNA | BP | SMAD1 |
GO_DSRNA_FRAGMENTATION | BP | SMAD1 |
GO_CELL_FATE_COMMITMENT | BP | SMAD1 |
GO_REGULATION_OF_CELLULAR_AMIDE_METABOLIC_PROCESS | BP | SMAD1 |
GO_STRIATED_MUSCLE_CELL_PROLIFERATION | BP | SMAD1 |
GO_CONNECTIVE_TISSUE_DEVELOPMENT | BP | SMAD1 |
GO_POSITIVE_REGULATION_OF_OSTEOBLAST_DIFFERENTIATION | BP | SMAD1 |
GO_RESPONSE_TO_DSRNA | BP | SMAD1 |
GO_HEART_GROWTH | BP | SMAD1 |
GO_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS | BP | SMAD1 |
GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER_INVOLVED_IN_CELLULAR_RESPONSE_TO_CHEMICAL_STIMULUS | BP | SMAD1 |
GO_MESONEPHROS_DEVELOPMENT | BP | SMAD1 |
GO_MESODERMAL_CELL_FATE_COMMITMENT | BP | SMAD1 |
GO_DEVELOPMENTAL_GROWTH | BP | SMAD1 |
GO_NUCLEAR_INNER_MEMBRANE | CC | SMAD1 |
GO_SMAD_BINDING | MF | SMAD1 |
GO_CORE_PROMOTER_BINDING | MF | SMAD1 |
GO_I_SMAD_BINDING | MF | SMAD1 |
GO_TRANSCRIPTIONAL_ACTIVATOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_REGULATORY_REGION_SEQUENCE_SPECIFIC_BINDING | MF | SMAD1 |
GO_CO_SMAD_BINDING | MF | SMAD1 |
GO_RNA_POLYMERASE_II_CORE_PROMOTER_SEQUENCE_SPECIFIC_DNA_BINDING | MF | SMAD1 |
GO_CORE_PROMOTER_SEQUENCE_SPECIFIC_DNA_BINDING | MF | SMAD1 |