Sample ID | Biosample type | Tissue type | Biosample name | TF Frequency |
---|---|---|---|---|
Sample_02_180 | Cell line | Human melanoma | CJM | 0.0234375 |
Sample ID | Tissue type | Biosample type | Biosample name |
---|
rsID | Chr | Start | Stop | Ref | Alt | Gene_region | Gene_symble | Effect | TCGA_Occurrence |
---|---|---|---|---|---|---|---|---|---|
- | chr16 | 79632791 | 79632791 | G | A | exonic | MAF | synonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr16 | 79633671 | 79633671 | G | A | exonic | MAF | synonymous | LUSC|1|178|0.00562 |
rs759815012 | chr16 | 79633486 | 79633486 | G | A | exonic | MAF | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr16 | 79633642 | 79633642 | C | T | exonic | MAF | nonsynonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr16 | 79632975 | 79632975 | G | T | exonic | MAF | nonsynonymous | LUAD|1|543|0.00184 |
- | chr16 | 79632734 | 79632734 | A | G | exonic | MAF | nonsynonymous | ESCA|1|185|0.00541 |
- | chr16 | 79633490 | 79633490 | C | T | exonic | MAF | nonsynonymous | BLCA|1|396|0.00253 |
- | chr16 | 79632785 | 79632785 | G | A | exonic | MAF | nonsynonymous | SKCM|1|368|0.00272 |
- | chr16 | 79633711 | 79633711 | A | T | exonic | MAF | nonsynonymous | LUAD|1|543|0.00184 |
- | chr16 | 79628417 | 79628417 | C | T | exonic | MAF | synonymous | COADREAD|1|489|0.00204,READ|1|122|0.00820 |
- | chr16 | 79633406 | 79633406 | C | T | exonic | MAF | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr16 | 79633573 | 79633573 | G | A | exonic | MAF | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr16 | 79632883 | 79632883 | C | T | exonic | MAF | nonsynonymous | UCEC|1|248|0.00403 |
- | chr16 | 79632803 | 79632803 | C | A | exonic | MAF | stopgain | BRCA|1|982|0.00102 |
- | chr16 | 79632692 | 79632692 | C | T | exonic | MAF | nonsynonymous | LUAD|1|543|0.00184 |
- | chr16 | 79633710 | 79633710 | A | G | exonic | MAF | synonymous | KIPAN|1|799|0.00125,KIRC|1|451|0.00222 |
rs377735141 | chr16 | 79628410 | 79628410 | C | T | exonic | MAF | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr16 | 79633769 | 79633769 | C | G | exonic | MAF | nonsynonymous | GBMLGG|1|820|0.00122,LGG|1|530|0.00189 |
- | chr16 | 79632907 | 79632907 | T | G | exonic | MAF | nonsynonymous | BLCA|1|396|0.00253 |
- | chr16 | 79633742 | 79633742 | C | T | exonic | MAF | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr16 | 79632802 | 79632803 | TC | - | exonic | MAF | frameshift | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr16 | 79633606 | 79633606 | C | T | exonic | MAF | nonsynonymous | PAAD|1|185|0.00541 |
- | chr16 | 79633527 | 79633527 | G | A | exonic | MAF | synonymous | LUAD|1|543|0.00184 |
- | chr16 | 79632969 | 79632969 | C | T | exonic | MAF | synonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr16 | 79628399 | 79628399 | C | A | exonic | MAF | nonsynonymous | LUAD|1|543|0.00184 |
- | chr16 | 79633850 | 79633850 | G | T | UTR5 | MAF | unknown | GBMLGG|1|820|0.00122,LGG|1|530|0.00189 |
- | chr16 | 79633679 | 79633679 | G | A | exonic | MAF | nonsynonymous | HNSC|1|512|0.00195 |
- | chr16 | 79632895 | 79632895 | G | A | exonic | MAF | nonsynonymous | UCEC|1|248|0.00403 |
- | chr16 | 79632954 | 79632954 | G | T | exonic | MAF | nonsynonymous | KIPAN|1|799|0.00125,KIRC|1|451|0.00222 |
- | chr16 | 79633438 | 79633438 | C | T | exonic | MAF | nonsynonymous | PAAD|1|185|0.00541 |
- | chr16 | 79633675 | 79633675 | A | T | exonic | MAF | nonsynonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
rs754156981 | chr16 | 79633485 | 79633485 | C | A | exonic | MAF | synonymous | COADREAD|1|489|0.00204,READ|1|122|0.00820 |
- | chr16 | 79633678 | 79633678 | C | T | exonic | MAF | nonsynonymous | GBMLGG|1|820|0.00122,LGG|1|530|0.00189 |
- | chr16 | 79633683 | 79633683 | G | A | exonic | MAF | synonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr16 | 79632690 | 79632690 | C | T | exonic | MAF | synonymous | UCEC|1|248|0.00403 |
- | chr16 | 79632824 | 79632824 | G | A | exonic | MAF | stopgain | BLCA|1|396|0.00253 |
- | chr16 | 79632723 | 79632723 | G | C | exonic | MAF | nonsynonymous | LUSC|1|178|0.00562 |
- | chr16 | 79632962 | 79632962 | C | T | exonic | MAF | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr16 | 79633553 | 79633553 | C | T | exonic | MAF | nonsynonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr16 | 79632737 | 79632737 | C | T | exonic | MAF | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr16 | 79632973 | 79632973 | C | T | exonic | MAF | nonsynonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr16 | 79632703 | 79632703 | G | A | exonic | MAF | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
TF_name | Disease_name | Disease_class | Disease_semantic_type | TF_disease_source |
---|---|---|---|---|
MAF | Intrahepatic Cholestasis | C06 | Disease or Syndrome | CTD_human |
MAF | Congenital ocular coloboma (disorder) | C11;C16 | Congenital Abnormality | GENOMICS_ENGLAND |
MAF | Cataract | C11 | Acquired Abnormality | GENOMICS_ENGLAND |
MAF | Cataract, congenital, cerulean type 1 | C11 | Congenital Abnormality | ORPHANET |
MAF | Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation | C09;C10;C11;C23;F01;F03 | Disease or Syndrome | CTD_human;UNIPROT |
MAF | Cataract, Pulverulent | C11;C16 | Disease or Syndrome | ORPHANET |
MAF | CATARACT, COPPOCK-LIKE | C11 | Disease or Syndrome | ORPHANET |
MAF | Abnormality of the cornea | Finding | GENOMICS_ENGLAND | |
MAF | Cataract, Pulverulent, Juvenile-Onset | C11 | Congenital Abnormality | CTD_human;UNIPROT |
MAF | Cataract microcornea syndrome | C11 | Disease or Syndrome | ORPHANET |
MAF | Intellectual Disability | C10;C23;F01;F03 | Mental or Behavioral Dysfunction | GENOMICS_ENGLAND |
MAF | CATARACT 21, MULTIPLE TYPES | Disease or Syndrome | UNIPROT |
pathway_ID | pathway_name | pathway_source | gene_number | edge_number |
---|---|---|---|---|
pathway0000343 | Calcineurin-regulated NFAT-dependent transcription in lymphocytes | pid | 50 | 304 |
pathway0000403 | Ceramide signaling pathway | pid | 49 | 409 |
pathway0001236 | Kaposi sarcoma-associated herpesvirus | mirtarbase | 13 | 2 |
pathway0001834 | Regulation of gene expression in beta cells | reactome | 17 | 54 |
pathway0002246 | TNF receptor signaling pathway | pid | 46 | 428 |
pathway0002252 | TNFR1-mediated ceramide production | reactome | 6 | 10 |
pathway0002629 | Type II diabetes mellitus | kegg | 44 | 261 |
pathway0002631 | Maturity onset diabetes of the young | kegg | 25 | 76 |
pathway0002801 | Hs_TNF_alpha_Signaling_Pathway_WP231_89895 | wikipathways | 61 | 486 |
pathway0002841 | Hs_Ectoderm_Differentiation_WP2858_89329 | wikipathways | 56 | 137 |
GO_term_name | GO_term_type | TF_name |
---|---|---|
GO_LENS_FIBER_CELL_DIFFERENTIATION | BP | MAF |
GO_RESPIRATORY_GASEOUS_EXCHANGE | BP | MAF |
GO_REGULATION_OF_OSTEOCLAST_DIFFERENTIATION | BP | MAF |
GO_REGULATION_OF_EPIDERMIS_DEVELOPMENT | BP | MAF |
GO_AMIDE_TRANSPORT | BP | MAF |
GO_ADULT_BEHAVIOR | BP | MAF |
GO_RESPONSE_TO_WOUNDING | BP | MAF |
GO_PROTEIN_SECRETION | BP | MAF |
GO_INSULIN_SECRETION | BP | MAF |
GO_SINGLE_ORGANISM_CELL_ADHESION | BP | MAF |
GO_SECOND_MESSENGER_MEDIATED_SIGNALING | BP | MAF |
GO_THYMUS_DEVELOPMENT | BP | MAF |
GO_IMMUNE_SYSTEM_DEVELOPMENT | BP | MAF |
GO_HORMONE_TRANSPORT | BP | MAF |
GO_REGULATION_OF_MEMBRANE_LIPID_METABOLIC_PROCESS | BP | MAF |
GO_PEPTIDE_SECRETION | BP | MAF |
GO_WOUND_HEALING | BP | MAF |
GO_CELLULAR_MONOVALENT_INORGANIC_CATION_HOMEOSTASIS | BP | MAF |
GO_REGULATION_OF_EPITHELIAL_CELL_DIFFERENTIATION | BP | MAF |
GO_EMBRYO_DEVELOPMENT | BP | MAF |
GO_REGULATION_OF_LEUKOCYTE_DIFFERENTIATION | BP | MAF |
GO_REGULATION_OF_MYELOID_CELL_DIFFERENTIATION | BP | MAF |
GO_REGULATION_OF_HEMOPOIESIS | BP | MAF |
GO_THYMOCYTE_AGGREGATION | BP | MAF |
GO_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_III_PROMOTER | BP | MAF |
GO_MUSCLE_STRUCTURE_DEVELOPMENT | BP | MAF |
GO_SPHINGOLIPID_METABOLIC_PROCESS | BP | MAF |
GO_REGULATION_OF_CERAMIDE_BIOSYNTHETIC_PROCESS | BP | MAF |
GO_NEGATIVE_REGULATION_OF_HOMEOSTATIC_PROCESS | BP | MAF |
GO_NEGATIVE_REGULATION_OF_MYELOID_LEUKOCYTE_DIFFERENTIATION | BP | MAF |
GO_REGULATION_OF_CHONDROCYTE_DIFFERENTIATION | BP | MAF |
GO_SEGMENTATION | BP | MAF |
GO_PARTURITION | BP | MAF |
GO_REGULATION_OF_ERYTHROCYTE_DIFFERENTIATION | BP | MAF |
GO_EAR_MORPHOGENESIS | BP | MAF |
GO_SEGMENT_SPECIFICATION | BP | MAF |
GO_REGULATION_OF_EPIDERMAL_CELL_DIFFERENTIATION | BP | MAF |
GO_CERAMIDE_METABOLIC_PROCESS | BP | MAF |
GO_LEUKOCYTE_CELL_CELL_ADHESION | BP | MAF |
GO_MONOVALENT_INORGANIC_CATION_HOMEOSTASIS | BP | MAF |
GO_CELLULAR_CHEMICAL_HOMEOSTASIS | BP | MAF |
GO_SKELETAL_MUSCLE_CELL_DIFFERENTIATION | BP | MAF |
GO_POSITIVE_REGULATION_OF_LIPID_BIOSYNTHETIC_PROCESS | BP | MAF |
GO_MEMBRANE_LIPID_METABOLIC_PROCESS | BP | MAF |
GO_NITRIC_OXIDE_MEDIATED_SIGNAL_TRANSDUCTION | BP | MAF |
GO_REGULATION_OF_CELLULAR_PH | BP | MAF |
GO_NEGATIVE_REGULATION_OF_LEUKOCYTE_DIFFERENTIATION | BP | MAF |
GO_T_CELL_DIFFERENTIATION | BP | MAF |
GO_TISSUE_DEVELOPMENT | BP | MAF |
GO_LYMPHOCYTE_DIFFERENTIATION | BP | MAF |
GO_PEPTIDE_TRANSPORT | BP | MAF |
GO_LENS_DEVELOPMENT_IN_CAMERA_TYPE_EYE | BP | MAF |
GO_NEGATIVE_REGULATION_OF_OSTEOCLAST_DIFFERENTIATION | BP | MAF |
GO_AXON | CC | MAF |
GO_NEURON_PROJECTION | CC | MAF |
GO_INHIBITORY_SYNAPSE | CC | MAF |
GO_TRANSCRIPTION_COFACTOR_BINDING | MF | MAF |
GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY | MF | MAF |
GO_RNA_POLYMERASE_BINDING | MF | MAF |
GO_RNA_POLYMERASE_CORE_ENZYME_BINDING | MF | MAF |
GO_TRANSCRIPTION_FACTOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING | MF | MAF |
GO_GABA_RECEPTOR_BINDING | MF | MAF |
GO_LIPASE_ACTIVATOR_ACTIVITY | MF | MAF |
GO_CORE_PROMOTER_PROXIMAL_REGION_DNA_BINDING | MF | MAF |