Sample ID | Biosample type | Tissue type | Biosample name | TF Frequency |
---|---|---|---|---|
Sample_02_228 | Cell line | Oesophagus | KYSE510 | 0.97483690587139 |
Sample_02_250 | Tissue | Brain | tumormodel3691 | 0.65625 |
Sample_02_310 | Cell line | Neuroblastoma | SJNB8 | 0.026212319790301 |
Sample_02_413 | Tissue | Brain | GBM_2493 | 0.51098901098901 |
Sample_02_424 | Cell line | Colon | SW620 | 0.39130434782609 |
Sample ID | Tissue type | Biosample type | Biosample name |
---|---|---|---|
Sample_02_228 | Oesophagus | Cell line | KYSE510 |
Sample_02_250 | Brain | Tissue | tumormodel3691 |
Sample_02_413 | Brain | Tissue | GBM_2493 |
rsID | Chr | Start | Stop | Ref | Alt | Gene_region | Gene_symble | Effect | TCGA_Occurrence |
---|---|---|---|---|---|---|---|---|---|
- | chr3 | 181430542 | 181430542 | C | T | exonic | SOX2 | synonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr3 | 181430398 | 181430398 | G | T | exonic | SOX2 | stopgain | CESC|1|194|0.00515 |
- | chr3 | 181430266 | 181430266 | C | T | exonic | SOX2 | nonsynonymous | BLCA|1|396|0.00253 |
- | chr3 | 181430384 | 181430384 | G | T | exonic | SOX2 | nonsynonymous | ACC|1|90|0.01111 |
- | chr3 | 181431011 | 181431011 | C | - | exonic | SOX2 | frameshift | ESCA|1|185|0.00541 |
- | chr3 | 181430281 | 181430281 | A | T | exonic | SOX2 | nonsynonymous | LUSC|1|178|0.00562 |
- | chr3 | 181430308 | 181430308 | G | A | exonic | SOX2 | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204,SKCM|1|368|0.00272 |
- | chr3 | 181430750 | 181430750 | A | G | exonic | SOX2 | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr3 | 181430930 | 181430930 | C | T | exonic | SOX2 | nonsynonymous | PAAD|1|185|0.00541 |
- | chr3 | 181430438 | 181430438 | T | G | exonic | SOX2 | nonsynonymous | BLCA|1|396|0.00253 |
- | chr3 | 181430901 | 181430901 | C | - | exonic | SOX2 | frameshift | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr3 | 181430702 | 181430702 | G | A | exonic | SOX2 | nonsynonymous | GBMLGG|1|820|0.00122,LGG|1|530|0.00189 |
- | chr3 | 181430973 | 181430973 | C | T | exonic | SOX2 | synonymous | GBMLGG|1|820|0.00122,LGG|1|530|0.00189 |
- | chr3 | 181430501 | 181430501 | C | T | exonic | SOX2 | nonsynonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr3 | 181430846 | 181430846 | C | A | exonic | SOX2 | nonsynonymous | UCEC|1|248|0.00403 |
- | chr3 | 181430802 | 181430802 | C | T | exonic | SOX2 | synonymous | UCEC|1|248|0.00403 |
- | chr3 | 181430600 | 181430600 | C | T | exonic | SOX2 | nonsynonymous | UCEC|1|248|0.00403 |
- | chr3 | 181430376 | 181430376 | C | T | exonic | SOX2 | synonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr3 | 181430503 | 181430503 | C | T | exonic | SOX2 | nonsynonymous | UCEC|1|248|0.00403 |
- | chr3 | 181430265 | 181430265 | C | - | exonic | SOX2 | frameshift | THCA|1|504|0.00198 |
- | chr3 | 181430405 | 181430405 | A | G | exonic | SOX2 | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr3 | 181430346 | 181430346 | G | A | exonic | SOX2 | nonsynonymous | CESC|1|194|0.00515 |
- | chr3 | 181430259 | 181430259 | C | T | exonic | SOX2 | synonymous | UCEC|1|248|0.00403 |
- | chr3 | 181430873 | 181430873 | C | T | exonic | SOX2 | nonsynonymous | HNSC|2|512|0.00391 |
- | chr3 | 181430441 | 181430441 | G | A | exonic | SOX2 | nonsynonymous | BLCA|2|396|0.00505 |
- | chr3 | 181430208 | 181430226 | CGGCGGCGGCAACTCCACC | - | exonic | SOX2 | frameshift | CHOL|1|35|0.02857 |
rs774944911 | chr3 | 181430808 | 181430808 | G | C | exonic | SOX2 | synonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr3 | 181430398 | 181430398 | G | A | exonic | SOX2 | nonsynonymous | BRCA|1|982|0.00102 |
- | chr3 | 181430953 | 181430953 | G | T | exonic | SOX2 | nonsynonymous | BLCA|1|396|0.00253 |
- | chr3 | 181430415 | 181430415 | G | A | exonic | SOX2 | synonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr3 | 181430843 | 181430843 | C | T | exonic | SOX2 | nonsynonymous | HNSC|1|512|0.00195 |
- | chr3 | 181430499 | 181430499 | G | A | exonic | SOX2 | synonymous | HNSC|1|512|0.00195 |
- | chr3 | 181430445 | 181430445 | G | A | exonic | SOX2 | synonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr3 | 181430944 | 181430944 | C | G | exonic | SOX2 | nonsynonymous | CESC|1|194|0.00515 |
- | chr3 | 181430349 | 181430349 | C | A | exonic | SOX2 | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr3 | 181430864 | 181430864 | C | A | exonic | SOX2 | nonsynonymous | HNSC|1|512|0.00195 |
- | chr3 | 181430977 | 181430977 | T | C | exonic | SOX2 | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr3 | 181430620 | 181430620 | G | A | exonic | SOX2 | nonsynonymous | CESC|1|194|0.00515 |
- | chr3 | 181430283 | 181430283 | G | C | exonic | SOX2 | nonsynonymous | BLCA|1|396|0.00253 |
- | chr3 | 181430614 | 181430614 | C | T | exonic | SOX2 | nonsynonymous | BRCA|1|982|0.00102 |
- | chr3 | 181431045 | 181431045 | G | A | exonic | SOX2 | synonymous | SKCM|1|368|0.00272 |
- | chr3 | 181430832 | 181430832 | G | A | exonic | SOX2 | synonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr3 | 181430792 | 181430792 | C | T | exonic | SOX2 | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr3 | 181430399 | 181430399 | A | - | exonic | SOX2 | frameshift | BLCA|1|396|0.00253 |
- | chr3 | 181430877 | 181430877 | G | - | exonic | SOX2 | frameshift | HNSC|1|512|0.00195 |
- | chr3 | 181430637 | 181430637 | G | A | exonic | SOX2 | nonsynonymous | BLCA|1|396|0.00253 |
- | chr3 | 181430578 | 181430578 | G | C | exonic | SOX2 | nonsynonymous | LUAD|1|543|0.00184 |
- | chr3 | 181430271 | 181430271 | C | G | exonic | SOX2 | synonymous | BRCA|1|982|0.00102 |
TF_name | Disease_name | Disease_class | Disease_semantic_type | TF_disease_source |
---|---|---|---|---|
SOX2 | Anophthalmos | C11;C16 | Congenital Abnormality | CTD_human |
SOX2 | Brain Neoplasms | C04;C10 | Neoplastic Process | CTD_human |
SOX2 | Non-Small Cell Lung Carcinoma | C04;C08 | Neoplastic Process | CGI |
SOX2 | Squamous cell carcinoma | C04 | Neoplastic Process | CTD_human |
SOX2 | Congenital ocular coloboma (disorder) | C11;C16 | Congenital Abnormality | GENOMICS_ENGLAND |
SOX2 | Esophageal Neoplasms | C04;C06 | Neoplastic Process | CGI |
SOX2 | Lung Neoplasms | C04;C08 | Neoplastic Process | CTD_human |
SOX2 | Neoplasm Recurrence, Local | C04;C23 | Neoplastic Process | CTD_human |
SOX2 | Osteogenesis Imperfecta | C05;C16;C17 | Congenital Abnormality; Disease or Syndrome | GENOMICS_ENGLAND |
SOX2 | Prostatic Neoplasms | C04;C12 | Neoplastic Process | CTD_human |
SOX2 | Thoracic Neoplasms | C04 | Neoplastic Process | CTD_human |
SOX2 | Cataract | C11 | Acquired Abnormality | GENOMICS_ENGLAND |
SOX2 | Small cell carcinoma of lung | C04;C08 | Neoplastic Process | CTD_human |
SOX2 | Adenocarcinoma of lung (disorder) | C04;C08 | Neoplastic Process | CTD_human |
SOX2 | Malignant neoplasm of brain | C04;C10 | Neoplastic Process | CTD_human |
SOX2 | Kallmann Syndrome | C12;C13;C16;C19 | Disease or Syndrome | ORPHANET |
SOX2 | Sarcoma, Epithelioid | C04 | Neoplastic Process | CTD_human |
SOX2 | Sarcoma, Spindle Cell | C04 | Neoplastic Process | CTD_human |
SOX2 | Malignant neoplasm of lung | C04;C08 | Neoplastic Process | CTD_human |
SOX2 | Squamous cell carcinoma of esophagus | C04;C06 | Neoplastic Process | CTD_human |
SOX2 | Septo-Optic Dysplasia | C10;C16 | Disease or Syndrome | ORPHANET |
SOX2 | Idiopathic hypogonadotropic hypogonadism | C19 | Disease or Syndrome | GENOMICS_ENGLAND |
SOX2 | Malignant neoplasm of prostate | C04;C12 | Neoplastic Process | CTD_human |
SOX2 | Benign neoplasm of brain, unspecified | C04;C10 | Neoplastic Process | CTD_human |
SOX2 | Brain Tumor, Primary | C04;C10 | Neoplastic Process | CTD_human |
SOX2 | Recurrent Brain Neoplasm | C04;C10 | Neoplastic Process | CTD_human |
SOX2 | Primary malignant neoplasm of brain | C04;C10 | Neoplastic Process | CTD_human |
SOX2 | Sarcoma | C04 | Neoplastic Process | CTD_human |
SOX2 | Neoplasms, Intracranial | C04;C10 | Neoplastic Process | CTD_human |
SOX2 | MICROPHTHALMIA, ISOLATED 1 | C11;C16 | Disease or Syndrome | ORPHANET |
SOX2 | Microphthalmia, Syndromic 3 | C06;C10;C11;C16 | Disease or Syndrome | CTD_human;ORPHANET;UNIPROT |
SOX2 | Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System | C10;C11 | Disease or Syndrome | UNIPROT |
SOX2 | Esophageal atresia with or without tracheoesophageal fistula | C06;C08;C16;C23 | Disease or Syndrome | CTD_human |
SOX2 | Intellectual Disability | C10;C23;F01;F03 | Mental or Behavioral Dysfunction | GENOMICS_ENGLAND |
pathway_ID | pathway_name | pathway_source | gene_number | edge_number |
---|---|---|---|---|
pathway0000549 | Deactivation of the beta-catenin transactivating complex | reactome | 42 | 236 |
pathway0001701 | POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation | reactome | 13 | 36 |
pathway0001702 | POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiation | reactome | 10 | 27 |
pathway0002301 | Transcriptional regulation of pluripotent stem cells | reactome | 28 | 184 |
pathway0002740 | Hs_Endoderm_Differentiation_WP2853_88152 | wikipathways | 62 | 260 |
pathway0002746 | Hs_Dopaminergic_Neurogenesis_WP2855_87239 | wikipathways | 19 | 37 |
pathway0002821 | Hs_Wnt_Signaling_Pathway_and_Pluripotency_WP399_90291 | wikipathways | 12 | 20 |
pathway0002826 | Hs_Mesodermal_Commitment_Pathway_WP2857_87780 | wikipathways | 47 | 175 |
pathway0002841 | Hs_Ectoderm_Differentiation_WP2858_89329 | wikipathways | 56 | 137 |
GO_term_name | GO_term_type | TF_name |
---|---|---|
GO_SOMATIC_STEM_CELL_POPULATION_MAINTENANCE | BP | SOX2 |
GO_NEGATIVE_REGULATION_OF_NEURON_DIFFERENTIATION | BP | SOX2 |
GO_FORMATION_OF_PRIMARY_GERM_LAYER | BP | SOX2 |
GO_OSTEOBLAST_DIFFERENTIATION | BP | SOX2 |
GO_PITUITARY_GLAND_DEVELOPMENT | BP | SOX2 |
GO_NEGATIVE_REGULATION_OF_NITROGEN_COMPOUND_METABOLIC_PROCESS | BP | SOX2 |
GO_CELL_FATE_COMMITMENT_INVOLVED_IN_FORMATION_OF_PRIMARY_GERM_LAYER | BP | SOX2 |
GO_ENDODERMAL_CELL_DIFFERENTIATION | BP | SOX2 |
GO_TISSUE_REGENERATION | BP | SOX2 |
GO_MAINTENANCE_OF_CELL_NUMBER | BP | SOX2 |
GO_NEUROGENESIS | BP | SOX2 |
GO_NEURONAL_STEM_CELL_POPULATION_MAINTENANCE | BP | SOX2 |
GO_POSITIVE_REGULATION_OF_CELL_CELL_ADHESION | BP | SOX2 |
GO_GLIAL_CELL_FATE_COMMITMENT | BP | SOX2 |
GO_ENDOCRINE_SYSTEM_DEVELOPMENT | BP | SOX2 |
GO_GLIAL_CELL_DIFFERENTIATION | BP | SOX2 |
GO_CELL_FATE_SPECIFICATION | BP | SOX2 |
GO_ADENOHYPOPHYSIS_DEVELOPMENT | BP | SOX2 |
GO_ENDODERMAL_CELL_FATE_COMMITMENT | BP | SOX2 |
GO_NUCLEAR_ENVELOPE | CC | SOX2 |
GO_INTRINSIC_COMPONENT_OF_GOLGI_MEMBRANE | CC | SOX2 |
GO_MIRNA_BINDING | MF | SOX2 |
GO_INTRAMOLECULAR_OXIDOREDUCTASE_ACTIVITY_TRANSPOSING_S_S_BONDS | MF | SOX2 |
GO_INTRAMOLECULAR_OXIDOREDUCTASE_ACTIVITY | MF | SOX2 |