TF information

TF name: SMAD1
TF family: MH1
Ensembl gene ID: ENSG00000170365
Ensembl protein ID: ENSP00000426568, ENSP00000305769, ENSP00000377652, ENSP00000424959, ENSP00000424649, ENSP00000427002, ENSP00000425270
Entrez gene ID: 4086
Database name Link Database name Link
NCBI Gene: Genecards:
Uniprot: Wikipedia:
Cosmic 3D: Geneontology:
CCLE:

Frequency of SMAD1 in all biosamples
Sample ID Biosample type Tissue type Biosample name TF Frequency
Sample_02_314Cell lineNeuroblastomaSK-N-FI0.32098765432099

SMAD1 distribution in samples’ most representative CRC
Sample ID Tissue type Biosample type Biosample name

SMAD1 distribution in all CRCs
Biosample type
Biosample name
Sample ID

Genomic distribution of SEs associated with SMAD1
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Mutation of SMAD1
Database name Link
gnomAD: gnomAD
ExAC: ExAC
ICGC:
Database name Link
Cosmic:
Cosmic cell lines:
Depmap:

TCGA somatic mutations and clinical variants of SMAD1

rsID Chr Start Stop Ref Alt Gene_region Gene_symble Effect TCGA_Occurrence
-chr4146436069146436069GTexonicSMAD1stopgain BLCA|1|396|0.00253
-chr4146436067146436067AGexonicSMAD1nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr4146461145146461145GTexonicSMAD1nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr4146463850146463850GAexonicSMAD1nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr4146461063146461063GAexonicSMAD1nonsynonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr4146467983146467983CTexonicSMAD1nonsynonymous SKCM|1|368|0.00272
-chr4146475083146475083TAexonicSMAD1nonsynonymous GBMLGG|1|820|0.00122,LGG|1|530|0.00189
-chr4146467936146467936CTexonicSMAD1nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
rs773218247chr4146435948146435948GAexonicSMAD1synonymous CESC|1|194|0.00515
-chr4146435880146435880A-exonicSMAD1frameshift COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr4146460985146460985AGexonicSMAD1nonsynonymous UCEC|1|248|0.00403
-chr4146467907146467907CTexonicSMAD1synonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr4146463769146463769GCexonicSMAD1nonsynonymous LUAD|1|543|0.00184
-chr4146467997146467997GCexonicSMAD1nonsynonymous BRCA|1|982|0.00102
-chr4146479017146479017CTexonicSMAD1synonymous LUSC|1|178|0.00562
-chr4146460988146460988GAexonicSMAD1nonsynonymous SKCM|1|368|0.00272
-chr4146436166146436166GTsplicingSMAD1splicing LUSC|1|178|0.00562
-chr4146475128146475128AGexonicSMAD1nonsynonymous LUAD|1|543|0.00184
-chr4146479012146479012GTexonicSMAD1nonsynonymous LUAD|1|543|0.00184
-chr4146463793146463793CTexonicSMAD1stopgain BLCA|1|396|0.00253
-chr4146435868146435868GAexonicSMAD1nonsynonymous BLCA|1|396|0.00253
rs373113912chr4146435834146435834CTexonicSMAD1synonymous UCEC|1|248|0.00403
-chr4146474982146474982-AexonicSMAD1frameshift GBMLGG|1|820|0.00122,LGG|1|530|0.00189
-chr4146468035146468035GAexonicSMAD1nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr4146468031146468031AGexonicSMAD1nonsynonymous STAD|2|395|0.00506,STES|2|395|0.00506
-chr4146436032146436032CTexonicSMAD1synonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr4146475083146475083T-exonicSMAD1frameshift STAD|1|395|0.00253,STES|1|395|0.00253
-chr4146435774146435774GAexonicSMAD1synonymous ACC|1|90|0.01111
-chr4146478948146478948GCexonicSMAD1nonsynonymous OV|1|469|0.00213
rs576994811chr4146463818146463818CTexonicSMAD1nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr4146436151146436151GAexonicSMAD1nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr4146461204146461204CTexonicSMAD1stopgain SKCM|1|368|0.00272
-chr4146467854146467854GCsplicingSMAD1splicing LUAD|1|543|0.00184
rs766290015chr4146460987146460987CTexonicSMAD1synonymous HNSC|1|512|0.00195
rs752874837chr4146463741146463741GAexonicSMAD1synonymous UCEC|1|248|0.00403
-chr4146435885146435885AGexonicSMAD1synonymous COADREAD|1|489|0.00204,READ|1|122|0.00820
-chr4146460992146460992AGexonicSMAD1nonsynonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr4146467854146467854GAsplicingSMAD1splicing HNSC|1|512|0.00195
-chr4146475180146475180GCexonicSMAD1nonsynonymous BLCA|1|396|0.00253
-chr4146463845146463845GAexonicSMAD1nonsynonymous LUAD|1|543|0.00184,SKCM|1|368|0.00272
rs769453113chr4146435831146435831GAexonicSMAD1synonymous ESCA|1|185|0.00541
-chr4146467968146467968GAexonicSMAD1nonsynonymous BLCA|1|396|0.00253
-chr4146475004146475004CTexonicSMAD1stopgain SKCM|1|368|0.00272
rs372397852chr4146474973146474973CTexonicSMAD1synonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr4146475175146475175CTexonicSMAD1nonsynonymous UCEC|1|248|0.00403
-chr4146475084146475084TGexonicSMAD1nonsynonymous KIPAN|1|799|0.00125,KIRP|1|282|0.00355
-chr4146479006146479006CGexonicSMAD1nonsynonymous LUSC|1|178|0.00562
-chr4146435905146435905CTexonicSMAD1nonsynonymous GBMLGG|1|820|0.00122,LGG|1|530|0.00189
rs765987226chr4146475164146475164TCexonicSMAD1nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr4146475147146475147CTexonicSMAD1synonymous BRCA|1|982|0.00102
-chr4146435852146435852GAexonicSMAD1stopgain HNSC|2|512|0.00391
-chr4146467880146467880AGexonicSMAD1synonymous BRCA|1|982|0.00102
-chr4146474941146474941CAexonicSMAD1nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr4146463737146463737AGexonicSMAD1nonsynonymous LUAD|1|543|0.00184
rs747747846chr4146463798146463798GAexonicSMAD1synonymous KIPAN|1|799|0.00125,KIRP|1|282|0.00355
-chr4146461025146461025-TexonicSMAD1frameshift LUAD|1|543|0.00184
-chr4146468016146468016CTexonicSMAD1synonymous STAD|1|395|0.00253,STES|1|395|0.00253
rs370506404chr4146435947146435947CTexonicSMAD1nonsynonymous GBMLGG|1|820|0.00122,LGG|1|530|0.00189
-chr4146435880146435880AGexonicSMAD1nonsynonymous SKCM|1|368|0.00272
-chr4146461008146461008CTexonicSMAD1synonymous UCEC|1|248|0.00403
-chr4146436153146436153GTexonicSMAD1nonsynonymous CESC|1|194|0.00515
-chr4146460970146460970CGexonicSMAD1nonsynonymous HNSC|1|512|0.00195
rs746555376chr4146463782146463782AGexonicSMAD1nonsynonymous BLCA|1|396|0.00253
-chr4146461124146461124GCexonicSMAD1nonsynonymous LUSC|1|178|0.00562

Disease information of SMAD1
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 associated with SMAD1
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 information of SMAD1
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

Survival analysis of SMAD1



Calculate the hazards ratio based on Cox PH Model.
Add the 95% CI as dotted line.

Expression of SMAD1