Sample ID | Biosample type | Tissue type | Biosample name | TF Frequency |
---|---|---|---|---|
Sample_02_304 | Cell line | Neuroblastoma | N206 | 0.17663043478261 |
Sample_02_309 | Cell line | Neuroblastoma | SJNB6 | 0.99526066350711 |
Sample_02_313 | Cell line | Neuroblastoma | SK-N-DZ | 0.93050193050193 |
Sample ID | Tissue type | Biosample type | Biosample name |
---|---|---|---|
Sample_02_309 | Neuroblastoma | Cell line | SJNB6 |
Sample_02_313 | Neuroblastoma | Cell line | SK-N-DZ |
rsID | Chr | Start | Stop | Ref | Alt | Gene_region | Gene_symble | Effect | TCGA_Occurrence |
---|---|---|---|---|---|---|---|---|---|
- | chr7 | 35288340 | 35288340 | T | C | exonic | TBX20 | nonsynonymous | UCEC|1|248|0.00403 |
- | chr7 | 35288353 | 35288353 | G | A | exonic | TBX20 | nonsynonymous | CESC|1|194|0.00515 |
- | chr7 | 35289630 | 35289630 | C | G | exonic | TBX20 | nonsynonymous | ESCA|1|185|0.00541 |
- | chr7 | 35242129 | 35242129 | C | T | exonic | TBX20 | synonymous | GBM|1|290|0.00345,GBMLGG|1|820|0.00122,LUSC|1|178|0.00562 |
- | chr7 | 35242269 | 35242269 | C | T | exonic | TBX20 | nonsynonymous | SKCM|1|368|0.00272 |
- | chr7 | 35288373 | 35288373 | G | A | exonic | TBX20 | nonsynonymous | LIHC|1|373|0.00268 |
- | chr7 | 35242262 | 35242262 | A | T | exonic | TBX20 | nonsynonymous | LUAD|1|543|0.00184 |
rs139984472 | chr7 | 35293169 | 35293169 | G | A | exonic | TBX20 | synonymous | STAD|2|395|0.00506,STES|2|395|0.00506 |
- | chr7 | 35288414 | 35288414 | C | T | exonic | TBX20 | synonymous | SKCM|1|368|0.00272 |
- | chr7 | 35242131 | 35242131 | G | A | exonic | TBX20 | nonsynonymous | SKCM|1|368|0.00272 |
- | chr7 | 35288451 | 35288451 | C | A | exonic | TBX20 | nonsynonymous | LUAD|1|543|0.00184 |
- | chr7 | 35242110 | 35242110 | G | A | exonic | TBX20 | stopgain | SKCM|1|368|0.00272 |
rs768739120 | chr7 | 35244193 | 35244193 | C | T | exonic | TBX20 | nonsynonymous | SKCM|1|368|0.00272 |
- | chr7 | 35242184 | 35242184 | G | A | exonic | TBX20 | nonsynonymous | CHOL|1|35|0.02857 |
- | chr7 | 35284624 | 35284624 | G | C | exonic | TBX20 | synonymous | CESC|1|194|0.00515 |
- | chr7 | 35271190 | 35271190 | T | C | exonic | TBX20 | nonsynonymous | UCEC|1|248|0.00403 |
- | chr7 | 35284578 | 35284578 | G | T | exonic | TBX20 | nonsynonymous | ESCA|1|185|0.00541 |
- | chr7 | 35242097 | 35242097 | T | C | exonic | TBX20 | nonsynonymous | SARC|1|247|0.00405 |
- | chr7 | 35242325 | 35242325 | G | T | exonic | TBX20 | nonsynonymous | LUAD|1|543|0.00184 |
rs747369702 | chr7 | 35280519 | 35280519 | G | A | exonic | TBX20 | nonsynonymous | THCA|1|504|0.00198 |
- | chr7 | 35289618 | 35289618 | G | T | exonic | TBX20 | nonsynonymous | LUAD|1|543|0.00184 |
- | chr7 | 35293219 | 35293219 | C | A | exonic | TBX20 | nonsynonymous | SKCM|2|368|0.00543 |
- | chr7 | 35242247 | 35242247 | G | A | exonic | TBX20 | nonsynonymous | PRAD|2|499|0.00401 |
- | chr7 | 35288338 | 35288338 | G | A | exonic | TBX20 | nonsynonymous | UCEC|1|248|0.00403 |
- | chr7 | 35280641 | 35280641 | C | T | exonic | TBX20 | synonymous | SKCM|1|368|0.00272 |
- | chr7 | 35288347 | 35288347 | C | T | exonic | TBX20 | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr7 | 35244106 | 35244106 | C | T | exonic | TBX20 | nonsynonymous | HNSC|1|512|0.00195 |
- | chr7 | 35244126 | 35244126 | T | C | exonic | TBX20 | nonsynonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr7 | 35271118 | 35271118 | C | A | exonic | TBX20 | nonsynonymous | CHOL|1|35|0.02857 |
- | chr7 | 35289660 | 35289660 | C | A | exonic | TBX20 | stopgain | LUSC|1|178|0.00562 |
- | chr7 | 35289809 | 35289809 | A | G | exonic | TBX20 | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr7 | 35242075 | 35242075 | G | A | exonic | TBX20 | synonymous | LUAD|1|543|0.00184 |
- | chr7 | 35242161 | 35242161 | T | A | exonic | TBX20 | nonsynonymous | SKCM|2|368|0.00543 |
- | chr7 | 35244195 | 35244195 | C | T | splicing | TBX20 | splicing | SKCM|1|368|0.00272 |
rs372573377 | chr7 | 35242183 | 35242183 | G | A | exonic | TBX20 | synonymous | SKCM|1|368|0.00272 |
- | chr7 | 35288353 | 35288353 | G | C | exonic | TBX20 | nonsynonymous | BLCA|1|396|0.00253 |
- | chr7 | 35288379 | 35288379 | A | G | exonic | TBX20 | nonsynonymous | LUAD|1|543|0.00184 |
- | chr7 | 35289649 | 35289649 | G | T | exonic | TBX20 | synonymous | LUAD|1|543|0.00184 |
- | chr7 | 35242163 | 35242163 | C | T | exonic | TBX20 | nonsynonymous | SKCM|2|368|0.00543 |
- | chr7 | 35271146 | 35271146 | C | T | exonic | TBX20 | nonsynonymous | PAAD|1|185|0.00541 |
- | chr7 | 35242156 | 35242156 | G | T | exonic | TBX20 | synonymous | LUSC|1|178|0.00562 |
- | chr7 | 35271147 | 35271147 | G | T | exonic | TBX20 | synonymous | LUAD|1|543|0.00184 |
rs745523991 | chr7 | 35242127 | 35242127 | C | T | exonic | TBX20 | nonsynonymous | CESC|1|194|0.00515 |
- | chr7 | 35242238 | 35242238 | A | G | exonic | TBX20 | nonsynonymous | ESCA|1|185|0.00541 |
- | chr7 | 35293166 | 35293166 | C | A | exonic | TBX20 | synonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr7 | 35280611 | 35280611 | C | T | exonic | TBX20 | synonymous | UCEC|1|248|0.00403 |
- | chr7 | 35244122 | 35244122 | T | G | exonic | TBX20 | nonsynonymous | ESCA|1|185|0.00541 |
- | chr7 | 35242082 | 35242082 | C | T | exonic | TBX20 | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204,LIHC|1|373|0.00268 |
- | chr7 | 35242073 | 35242073 | T | C | exonic | TBX20 | nonsynonymous | SKCM|1|368|0.00272 |
rs138597530 | chr7 | 35289593 | 35289593 | C | A | exonic | TBX20 | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr7 | 35289694 | 35289694 | C | A | exonic | TBX20 | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr7 | 35293170 | 35293170 | G | T | exonic | TBX20 | nonsynonymous | LUAD|1|543|0.00184 |
rs112862467 | chr7 | 35288373 | 35288373 | G | C | exonic | TBX20 | nonsynonymous | LUAD|1|543|0.00184 |
- | chr7 | 35271119 | 35271119 | T | G | exonic | TBX20 | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr7 | 35293131 | 35293131 | G | A | exonic | TBX20 | nonsynonymous | PAAD|1|185|0.00541 |
- | chr7 | 35242226 | 35242226 | A | G | exonic | TBX20 | nonsynonymous | LUAD|1|543|0.00184 |
- | chr7 | 35271119 | 35271119 | T | C | exonic | TBX20 | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr7 | 35242294 | 35242294 | G | T | exonic | TBX20 | synonymous | LUAD|1|543|0.00184 |
- | chr7 | 35293157 | 35293157 | C | G | exonic | TBX20 | synonymous | LIHC|1|373|0.00268 |
- | chr7 | 35242103 | 35242103 | C | A | exonic | TBX20 | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr7 | 35244085 | 35244085 | G | A | exonic | TBX20 | stopgain | SKCM|1|368|0.00272 |
rs113335362 | chr7 | 35244134 | 35244134 | G | A | exonic | TBX20 | synonymous | COAD|2|367|0.00545,COADREAD|2|489|0.00409 |
- | chr7 | 35242254 | 35242254 | G | C | exonic | TBX20 | nonsynonymous | BRCA|1|982|0.00102 |
- | chr7 | 35288434 | 35288434 | G | C | exonic | TBX20 | nonsynonymous | HNSC|1|512|0.00195 |
- | chr7 | 35244188 | 35244188 | A | G | exonic | TBX20 | synonymous | LUSC|1|178|0.00562 |
- | chr7 | 35293206 | 35293206 | G | T | exonic | TBX20 | nonsynonymous | LIHC|1|373|0.00268 |
- | chr7 | 35244178 | 35244178 | G | A | exonic | TBX20 | synonymous | SKCM|1|368|0.00272 |
- | chr7 | 35293167 | 35293167 | G | A | exonic | TBX20 | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr7 | 35288323 | 35288323 | C | T | exonic | TBX20 | nonsynonymous | STAD|2|395|0.00506,STES|2|395|0.00506 |
- | chr7 | 35242047 | 35242047 | C | T | exonic | TBX20 | nonsynonymous | LUSC|1|178|0.00562 |
rs771888980 | chr7 | 35293127 | 35293127 | C | T | exonic | TBX20 | synonymous | CESC|1|194|0.00515 |
- | chr7 | 35289771 | 35289771 | G | T | exonic | TBX20 | nonsynonymous | LUSC|1|178|0.00562 |
- | chr7 | 35284591 | 35284591 | G | A | exonic | TBX20 | synonymous | LUSC|1|178|0.00562 |
- | chr7 | 35289646 | 35289646 | T | G | exonic | TBX20 | nonsynonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr7 | 35293225 | 35293225 | A | G | exonic | TBX20 | nonsynonymous | SKCM|1|368|0.00272 |
- | chr7 | 35289604 | 35289604 | G | T | exonic | TBX20 | nonsynonymous | LUSC|1|178|0.00562 |
- | chr7 | 35242048 | 35242048 | A | C | exonic | TBX20 | nonsynonymous | GBMLGG|1|820|0.00122,LGG|1|530|0.00189 |
- | chr7 | 35293175 | 35293175 | G | A | exonic | TBX20 | synonymous | SKCM|1|368|0.00272 |
- | chr7 | 35293132 | 35293132 | C | A | exonic | TBX20 | nonsynonymous | PRAD|1|499|0.00200 |
- | chr7 | 35271120 | 35271120 | C | A | exonic | TBX20 | stopgain | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
rs368803336 | chr7 | 35242182 | 35242182 | T | C | exonic | TBX20 | nonsynonymous | OV|1|469|0.00213 |
- | chr7 | 35288308 | 35288308 | C | T | exonic | TBX20 | nonsynonymous | LUAD|1|543|0.00184,SKCM|1|368|0.00272 |
- | chr7 | 35289644 | 35289644 | A | G | exonic | TBX20 | nonsynonymous | SKCM|1|368|0.00272 |
- | chr7 | 35293197 | 35293197 | G | C | exonic | TBX20 | nonsynonymous | SKCM|1|368|0.00272 |
- | chr7 | 35293192 | 35293192 | G | A | exonic | TBX20 | nonsynonymous | LUAD|1|543|0.00184 |
- | chr7 | 35244129 | 35244129 | C | T | exonic | TBX20 | nonsynonymous | BRCA|1|982|0.00102,SKCM|1|368|0.00272 |
rs776684707 | chr7 | 35271187 | 35271187 | C | T | exonic | TBX20 | synonymous | LUAD|1|543|0.00184 |
- | chr7 | 35289601 | 35289601 | A | T | exonic | TBX20 | nonsynonymous | LUAD|1|543|0.00184 |
rs375102469 | chr7 | 35293184 | 35293184 | G | A | exonic | TBX20 | synonymous | COAD|2|367|0.00545,COADREAD|2|489|0.00409 |
- | chr7 | 35284588 | 35284588 | G | T | exonic | TBX20 | synonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr7 | 35242162 | 35242162 | C | T | exonic | TBX20 | synonymous | SKCM|1|368|0.00272 |
rs766895072 | chr7 | 35284638 | 35284638 | C | T | exonic | TBX20 | nonsynonymous | BLCA|1|396|0.00253,UCEC|1|248|0.00403 |
- | chr7 | 35280585 | 35280585 | G | T | exonic | TBX20 | nonsynonymous | LUAD|1|543|0.00184 |
- | chr7 | 35280609 | 35280609 | T | C | exonic | TBX20 | nonsynonymous | HNSC|1|512|0.00195 |
- | chr7 | 35288352 | 35288352 | C | A | exonic | TBX20 | nonsynonymous | PRAD|1|499|0.00200 |
- | chr7 | 35244109 | 35244109 | C | - | exonic | TBX20 | frameshift | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr7 | 35280566 | 35280566 | C | T | exonic | TBX20 | synonymous | GBMLGG|1|820|0.00122,LGG|1|530|0.00189 |
- | chr7 | 35242168 | 35242168 | C | A | exonic | TBX20 | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr7 | 35242211 | 35242211 | C | T | exonic | TBX20 | nonsynonymous | LUAD|1|543|0.00184 |
- | chr7 | 35280503 | 35280503 | G | T | exonic | TBX20 | stopgain | LUAD|1|543|0.00184 |
- | chr7 | 35289651 | 35289651 | C | A | exonic | TBX20 | nonsynonymous | LUAD|1|543|0.00184 |
- | chr7 | 35289643 | 35289643 | A | C | exonic | TBX20 | nonsynonymous | SKCM|1|368|0.00272 |
- | chr7 | 35280521 | 35280521 | A | G | exonic | TBX20 | synonymous | SKCM|1|368|0.00272 |
- | chr7 | 35284653 | 35284653 | C | A | exonic | TBX20 | nonsynonymous | PAAD|1|185|0.00541 |
- | chr7 | 35284668 | 35284668 | G | A | exonic | TBX20 | nonsynonymous | SKCM|2|368|0.00543 |
- | chr7 | 35293166 | 35293166 | C | T | exonic | TBX20 | synonymous | PAAD|1|185|0.00541 |
- | chr7 | 35280555 | 35280555 | T | C | exonic | TBX20 | nonsynonymous | HNSC|1|512|0.00195 |
- | chr7 | 35242348 | 35242348 | G | C | exonic | TBX20 | synonymous | HNSC|2|512|0.00391 |
- | chr7 | 35242187 | 35242187 | G | T | exonic | TBX20 | stopgain | HNSC|1|512|0.00195 |
- | chr7 | 35280553 | 35280553 | A | G | exonic | TBX20 | nonsynonymous | SKCM|1|368|0.00272 |
- | chr7 | 35288447 | 35288447 | C | T | exonic | TBX20 | nonsynonymous | UCEC|1|248|0.00403 |
- | chr7 | 35284610 | 35284610 | G | T | exonic | TBX20 | nonsynonymous | BRCA|1|982|0.00102 |
rs3999940 | chr7 | 35280490 | 35280490 | C | T | splicing | TBX20 | splicing | SKCM|1|368|0.00272 |
- | chr7 | 35280490 | 35280490 | C | A | splicing | TBX20 | splicing | BRCA|1|982|0.00102 |
- | chr7 | 35288374 | 35288374 | G | A | exonic | TBX20 | nonsynonymous | SKCM|1|368|0.00272 |
TF_name | Disease_name | Disease_class | Disease_semantic_type | TF_disease_source |
---|---|---|---|---|
TBX20 | Ostium secundum atrial septal defect | C14;C16 | Congenital Abnormality | ORPHANET |
TBX20 | Atrial Septal Defect 4 | C14;C16 | Congenital Abnormality; Disease or Syndrome | CTD_human;UNIPROT |
TBX20 | Intellectual Disability | C10;C23;F01;F03 | Mental or Behavioral Dysfunction | GENOMICS_ENGLAND |
pathway_ID | pathway_name | pathway_source | gene_number | edge_number |
---|---|---|---|---|
pathway0002768 | Hs_Heart_Development_WP1591_90186 | wikipathways | 28 | 78 |
GO_term_name | GO_term_type | TF_name |
---|---|---|
GO_CARDIAC_CHAMBER_DEVELOPMENT | BP | TBX20 |
GO_SPINAL_CORD_DEVELOPMENT | BP | TBX20 |
GO_OUTFLOW_TRACT_SEPTUM_MORPHOGENESIS | BP | TBX20 |
GO_REGULATION_OF_CARDIAC_MUSCLE_TISSUE_DEVELOPMENT | BP | TBX20 |
GO_FORMATION_OF_PRIMARY_GERM_LAYER | BP | TBX20 |
GO_ENDOCARDIAL_CUSHION_DEVELOPMENT | BP | TBX20 |
GO_POSITIVE_REGULATION_OF_HEART_GROWTH | BP | TBX20 |
GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS | BP | TBX20 |
GO_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS | BP | TBX20 |
GO_REGULATION_OF_CARDIAC_MUSCLE_CELL_PROLIFERATION | BP | TBX20 |
GO_ENDOCARDIAL_CUSHION_MORPHOGENESIS | BP | TBX20 |
GO_REGULATION_OF_MUSCLE_TISSUE_DEVELOPMENT | BP | TBX20 |
GO_CELL_DIFFERENTIATION_IN_SPINAL_CORD | BP | TBX20 |
GO_SPINAL_CORD_MOTOR_NEURON_DIFFERENTIATION | BP | TBX20 |
GO_ENDOCARDIAL_CUSHION_FORMATION | BP | TBX20 |
GO_SPECIFICATION_OF_SYMMETRY | BP | TBX20 |
GO_VENTRAL_SPINAL_CORD_DEVELOPMENT | BP | TBX20 |
GO_LATERAL_MESODERM_DEVELOPMENT | BP | TBX20 |
GO_CARDIAC_ATRIUM_DEVELOPMENT | BP | TBX20 |
GO_ATRIAL_SEPTUM_DEVELOPMENT | BP | TBX20 |
GO_PATTERNING_OF_BLOOD_VESSELS | BP | TBX20 |
GO_EMBRYONIC_HEART_TUBE_DEVELOPMENT | BP | TBX20 |
GO_ATRIAL_SEPTUM_MORPHOGENESIS | BP | TBX20 |
GO_REGULATION_OF_ORGAN_GROWTH | BP | TBX20 |
GO_REGULATION_OF_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY | BP | TBX20 |
GO_HEART_MORPHOGENESIS | BP | TBX20 |
GO_CARDIAC_VENTRICLE_MORPHOGENESIS | BP | TBX20 |
GO_MORPHOGENESIS_OF_AN_EPITHELIAL_SHEET | BP | TBX20 |
GO_CARDIAC_RIGHT_VENTRICLE_MORPHOGENESIS | BP | TBX20 |
GO_HEART_VALVE_FORMATION | BP | TBX20 |
GO_POSITIVE_REGULATION_OF_CARDIAC_MUSCLE_TISSUE_DEVELOPMENT | BP | TBX20 |
GO_NEURON_MIGRATION | BP | TBX20 |
GO_NEUROGENESIS | BP | TBX20 |
GO_POSITIVE_REGULATION_OF_CARDIAC_MUSCLE_CELL_PROLIFERATION | BP | TBX20 |
GO_PERICARDIUM_DEVELOPMENT | BP | TBX20 |
GO_HEART_VALVE_DEVELOPMENT | BP | TBX20 |
GO_ENDODERM_FORMATION | BP | TBX20 |
GO_POSITIVE_REGULATION_OF_MUSCLE_TISSUE_DEVELOPMENT | BP | TBX20 |
GO_REGULATION_OF_HEART_GROWTH | BP | TBX20 |
GO_CARDIAC_CHAMBER_FORMATION | BP | TBX20 |
GO_CARDIAC_SEPTUM_MORPHOGENESIS | BP | TBX20 |
GO_ATRIOVENTRICULAR_VALVE_DEVELOPMENT | BP | TBX20 |
GO_MESODERM_DEVELOPMENT | BP | TBX20 |
GO_VENOUS_BLOOD_VESSEL_DEVELOPMENT | BP | TBX20 |
GO_MESENCHYME_MORPHOGENESIS | BP | TBX20 |
GO_EMBRYONIC_ORGAN_DEVELOPMENT | BP | TBX20 |
GO_POSITIVE_REGULATION_OF_ORGAN_GROWTH | BP | TBX20 |
GO_TRANSCRIPTIONAL_REPRESSOR_ACTIVITY_RNA_POLYMERASE_II_ACTIVATING_TRANSCRIPTION_FACTOR_BINDING | MF | TBX20 |
GO_TRANSCRIPTIONAL_REPRESSOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_BINDING | MF | TBX20 |
GO_ACTIVATING_TRANSCRIPTION_FACTOR_BINDING | MF | TBX20 |
GO_RNA_POLYMERASE_II_ACTIVATING_TRANSCRIPTION_FACTOR_BINDING | MF | TBX20 |
GO_RNA_POLYMERASE_II_TRANSCRIPTION_COACTIVATOR_ACTIVITY | MF | TBX20 |
GO_RNA_POLYMERASE_II_TRANSCRIPTION_COFACTOR_ACTIVITY | MF | TBX20 |
GO_TRANSCRIPTION_COACTIVATOR_ACTIVITY | MF | TBX20 |
GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_BINDING | MF | TBX20 |