Sample ID | Biosample type | Tissue type | Biosample name | TF Frequency |
---|---|---|---|---|
Sample_02_254 | Cell line | Neuroblastoma | IMR5-75 | 0.67647058823529 |
Sample_02_296 | Cell line | Neuroblastoma | CLB-BER-Lud | 0.26243305279265 |
Sample_02_298 | Cell line | Neuroblastoma | CLB-GA | 0.42465753424658 |
Sample_02_299 | Cell line | Neuroblastoma | CLB-MA | 0.24460431654676 |
Sample_02_300 | Cell line | Neuroblastoma | CLB-PE | 0.52564102564103 |
Sample_02_302 | Cell line | Neuroblastoma | IMR32 | 0.32142857142857 |
Sample_02_303 | Cell line | Neuroblastoma | LAN1 | 0.65714285714286 |
Sample_02_304 | Cell line | Neuroblastoma | N206 | 0.36820652173913 |
Sample_02_307 | Cell line | Neuroblastoma | SJNB12 | 0.084507042253521 |
Sample_02_308 | Cell line | Neuroblastoma | SJNB1 | 0.40625 |
Sample_02_309 | Cell line | Neuroblastoma | SJNB6 | 0.35071090047393 |
Sample_02_310 | Cell line | Neuroblastoma | SJNB8 | 0.23787680209699 |
Sample_02_312 | Cell line | Neuroblastoma | SK-N-BE_2-C | 0.51595744680851 |
Sample_02_313 | Cell line | Neuroblastoma | SK-N-DZ | 0.30501930501931 |
Sample_02_314 | Cell line | Neuroblastoma | SK-N-FI | 0.28395061728395 |
Sample_02_318 | Cell line | Neuroblastoma | NB69 | 0.578125 |
Sample_02_319 | Cell line | Neuroblastoma | NB-EBc1 | 0.31791907514451 |
Sample ID | Tissue type | Biosample type | Biosample name |
---|---|---|---|
Sample_02_298 | Neuroblastoma | Cell line | CLB-GA |
Sample_02_300 | Neuroblastoma | Cell line | CLB-PE |
Sample_02_303 | Neuroblastoma | Cell line | LAN1 |
Sample_02_308 | Neuroblastoma | Cell line | SJNB1 |
Sample_02_312 | Neuroblastoma | Cell line | SK-N-BE_2-C |
Sample_02_318 | Neuroblastoma | Cell line | NB69 |
Sample_02_319 | Neuroblastoma | Cell line | NB-EBc1 |
rsID | Chr | Start | Stop | Ref | Alt | Gene_region | Gene_symble | Effect | TCGA_Occurrence |
---|---|---|---|---|---|---|---|---|---|
- | chr11 | 71950884 | 71950884 | T | C | exonic | PHOX2A | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr11 | 71951242 | 71951242 | C | T | exonic | PHOX2A | nonsynonymous | ACC|1|90|0.01111 |
- | chr11 | 71952331 | 71952331 | G | T | exonic | PHOX2A | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr11 | 71950871 | 71950871 | G | A | exonic | PHOX2A | synonymous | BLCA|1|396|0.00253 |
- | chr11 | 71952179 | 71952179 | C | A | exonic | PHOX2A | synonymous | LUAD|2|543|0.00368 |
rs758428790 | chr11 | 71954983 | 71954983 | G | A | exonic | PHOX2A | synonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr11 | 71954958 | 71954958 | C | T | exonic | PHOX2A | nonsynonymous | UCS|1|57|0.01754 |
- | chr11 | 71952305 | 71952305 | G | A | exonic | PHOX2A | synonymous | ESCA|1|185|0.00541 |
- | chr11 | 71952253 | 71952253 | C | T | exonic | PHOX2A | nonsynonymous | HNSC|1|512|0.00195,STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr11 | 71952223 | 71952223 | C | T | exonic | PHOX2A | nonsynonymous | STAD|2|395|0.00506,STES|2|395|0.00506 |
- | chr11 | 71950915 | 71950915 | C | T | exonic | PHOX2A | nonsynonymous | THCA|1|504|0.00198 |
- | chr11 | 71950911 | 71950911 | C | T | exonic | PHOX2A | nonsynonymous | SKCM|1|368|0.00272 |
- | chr11 | 71950813 | 71950813 | G | T | exonic | PHOX2A | nonsynonymous | HNSC|1|512|0.00195 |
- | chr11 | 71950893 | 71950893 | T | C | exonic | PHOX2A | nonsynonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr11 | 71952252 | 71952252 | G | A | exonic | PHOX2A | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr11 | 71952153 | 71952153 | C | T | exonic | PHOX2A | nonsynonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr11 | 71952288 | 71952288 | C | T | exonic | PHOX2A | nonsynonymous | LUAD|1|543|0.00184 |
- | chr11 | 71952160 | 71952160 | C | T | exonic | PHOX2A | nonsynonymous | LUSC|1|178|0.00562 |
- | chr11 | 71950817 | 71950817 | G | - | exonic | PHOX2A | frameshift | LIHC|1|373|0.00268 |
rs182932220 | chr11 | 71954893 | 71954893 | G | A | exonic | PHOX2A | synonymous | ACC|2|90|0.02222 |
- | chr11 | 71952279 | 71952279 | C | G | exonic | PHOX2A | nonsynonymous | LUAD|1|543|0.00184 |
TF_name | Disease_name | Disease_class | Disease_semantic_type | TF_disease_source |
---|---|---|---|---|
PHOX2A | Congenital Fibrosis of the Extraocular Muscles | C10;C11;C23 | Disease or Syndrome | ORPHANET |
PHOX2A | FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2 | C10;C11;C16;C23 | Disease or Syndrome | CTD_human;UNIPROT |
pathway_ID | pathway_name | pathway_source | gene_number | edge_number |
---|
GO_term_name | GO_term_type | TF_name |
---|---|---|
GO_SPINAL_CORD_DEVELOPMENT | BP | PHOX2A |
GO_METENCEPHALON_DEVELOPMENT | BP | PHOX2A |
GO_CRANIAL_NERVE_MORPHOGENESIS | BP | PHOX2A |
GO_CRANIAL_NERVE_DEVELOPMENT | BP | PHOX2A |
GO_CELL_DIFFERENTIATION_IN_SPINAL_CORD | BP | PHOX2A |
GO_SPINAL_CORD_MOTOR_NEURON_DIFFERENTIATION | BP | PHOX2A |
GO_VENTRAL_SPINAL_CORD_DEVELOPMENT | BP | PHOX2A |
GO_NEURAL_NUCLEUS_DEVELOPMENT | BP | PHOX2A |
GO_PONS_DEVELOPMENT | BP | PHOX2A |
GO_SYMPATHETIC_NERVOUS_SYSTEM_DEVELOPMENT | BP | PHOX2A |
GO_AUTONOMIC_NERVOUS_SYSTEM_DEVELOPMENT | BP | PHOX2A |
GO_DOPAMINERGIC_NEURON_DIFFERENTIATION | BP | PHOX2A |
GO_PARASYMPATHETIC_NERVOUS_SYSTEM_DEVELOPMENT | BP | PHOX2A |
GO_REGULATION_OF_RESPIRATORY_GASEOUS_EXCHANGE | BP | PHOX2A |
GO_REGULATORY_REGION_NUCLEIC_ACID_BINDING | MF | PHOX2A |
GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY | MF | PHOX2A |