Sample ID | Biosample type | Tissue type | Biosample name | TF Frequency |
---|---|---|---|---|
Sample_02_168 | Cell line | Prostate | LNCaP | 0.091254752851711 |
Sample_02_184 | Cell line | Skin | SKMEL30 | 0.35048231511254 |
Sample_02_299 | Cell line | Neuroblastoma | CLB-MA | 0.2158273381295 |
Sample_02_313 | Cell line | Neuroblastoma | SK-N-DZ | 0.15057915057915 |
Sample ID | Tissue type | Biosample type | Biosample name |
---|---|---|---|
Sample_02_184 | Skin | Cell line | SKMEL30 |
rsID | Chr | Start | Stop | Ref | Alt | Gene_region | Gene_symble | Effect | TCGA_Occurrence |
---|---|---|---|---|---|---|---|---|---|
- | chr20 | 39316685 | 39316685 | T | C | exonic | MAFB | nonsynonymous | HNSC|1|512|0.00195 |
- | chr20 | 39316659 | 39316659 | C | T | exonic | MAFB | nonsynonymous | LIHC|1|373|0.00268 |
rs767338343 | chr20 | 39317266 | 39317266 | C | T | exonic | MAFB | synonymous | BLCA|1|396|0.00253 |
- | chr20 | 39316829 | 39316829 | A | T | exonic | MAFB | nonsynonymous | SKCM|1|368|0.00272 |
- | chr20 | 39316595 | 39316595 | T | C | exonic | MAFB | nonsynonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr20 | 39316997 | 39316997 | T | C | exonic | MAFB | nonsynonymous | SKCM|1|368|0.00272 |
- | chr20 | 39317182 | 39317182 | C | T | exonic | MAFB | synonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr20 | 39316981 | 39316981 | C | T | exonic | MAFB | synonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
rs377639854 | chr20 | 39317238 | 39317238 | G | T | exonic | MAFB | nonsynonymous | UCEC|1|248|0.00403 |
- | chr20 | 39317284 | 39317284 | C | T | exonic | MAFB | synonymous | SKCM|1|368|0.00272,UCEC|1|248|0.00403 |
- | chr20 | 39316830 | 39316830 | C | T | exonic | MAFB | nonsynonymous | SKCM|1|368|0.00272 |
- | chr20 | 39317281 | 39317281 | C | T | exonic | MAFB | synonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr20 | 39317075 | 39317075 | G | T | exonic | MAFB | nonsynonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr20 | 39316747 | 39316747 | G | C | exonic | MAFB | nonsynonymous | BLCA|1|396|0.00253 |
- | chr20 | 39317195 | 39317195 | G | A | exonic | MAFB | nonsynonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr20 | 39316580 | 39316580 | G | A | exonic | MAFB | nonsynonymous | BLCA|1|396|0.00253 |
- | chr20 | 39317441 | 39317441 | G | T | exonic | MAFB | nonsynonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr20 | 39317311 | 39317311 | G | A | exonic | MAFB | synonymous | LUAD|1|543|0.00184 |
- | chr20 | 39317352 | 39317352 | T | C | exonic | MAFB | nonsynonymous | BLCA|1|396|0.00253 |
- | chr20 | 39316588 | 39316588 | G | A | exonic | MAFB | synonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr20 | 39317053 | 39317053 | C | A | exonic | MAFB | synonymous | HNSC|1|512|0.00195 |
- | chr20 | 39316633 | 39316633 | C | A | exonic | MAFB | synonymous | LUAD|1|543|0.00184 |
- | chr20 | 39317166 | 39317166 | C | T | exonic | MAFB | nonsynonymous | SKCM|1|368|0.00272 |
- | chr20 | 39317034 | 39317034 | C | G | exonic | MAFB | nonsynonymous | HNSC|1|512|0.00195 |
- | chr20 | 39317196 | 39317196 | C | T | exonic | MAFB | nonsynonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr20 | 39316536 | 39316536 | G | C | exonic | MAFB | nonsynonymous | ACC|1|90|0.01111 |
- | chr20 | 39316774 | 39316774 | C | T | exonic | MAFB | synonymous | BLCA|1|396|0.00253 |
- | chr20 | 39317104 | 39317104 | G | A | exonic | MAFB | synonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr20 | 39316690 | 39316690 | C | G | exonic | MAFB | nonsynonymous | CESC|1|194|0.00515 |
- | chr20 | 39317373 | 39317373 | C | T | exonic | MAFB | nonsynonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr20 | 39316679 | 39316679 | G | A | exonic | MAFB | nonsynonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr20 | 39317231 | 39317231 | C | T | exonic | MAFB | stopgain | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr20 | 39317054 | 39317054 | G | A | exonic | MAFB | nonsynonymous | KIPAN|1|799|0.00125,KIRC|1|451|0.00222 |
- | chr20 | 39316780 | 39316780 | G | A | exonic | MAFB | synonymous | BLCA|1|396|0.00253 |
- | chr20 | 39317483 | 39317483 | G | T | exonic | MAFB | nonsynonymous | ACC|1|90|0.01111 |
- | chr20 | 39316865 | 39316865 | T | C | exonic | MAFB | nonsynonymous | ESCA|1|185|0.00541 |
- | chr20 | 39316788 | 39316788 | C | T | exonic | MAFB | nonsynonymous | HNSC|1|512|0.00195 |
- | chr20 | 39316726 | 39316726 | G | C | exonic | MAFB | nonsynonymous | HNSC|1|512|0.00195 |
TF_name | Disease_name | Disease_class | Disease_semantic_type | TF_disease_source |
---|---|---|---|---|
MAFB | Cleft upper lip | C07;C16 | Congenital Abnormality | CTD_human |
MAFB | Duane Retraction Syndrome | C10;C11;C16 | Disease or Syndrome | CTD_human;ORPHANET |
MAFB | Osteogenesis Imperfecta | C05;C16;C17 | Congenital Abnormality; Disease or Syndrome | GENOMICS_ENGLAND |
MAFB | Duane Retraction Syndrome, Type 2 | C10;C11;C16 | Disease or Syndrome | CTD_human |
MAFB | Duane Retraction Syndrome, Type 3 | C10;C11;C16 | Disease or Syndrome | CTD_human |
MAFB | Type 1 Duane Retraction Syndrome | C10;C11;C16 | Disease or Syndrome | CTD_human |
MAFB | Okihiro Syndrome | C10;C11;C16 | Disease or Syndrome | CTD_human |
MAFB | Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy | C05 | Disease or Syndrome | CTD_human;ORPHANET;UNIPROT |
MAFB | Intellectual Disability | C10;C23;F01;F03 | Mental or Behavioral Dysfunction | GENOMICS_ENGLAND |
pathway_ID | pathway_name | pathway_source | gene_number | edge_number |
---|---|---|---|---|
pathway0002841 | Hs_Ectoderm_Differentiation_WP2858_89329 | wikipathways | 56 | 137 |
GO_term_name | GO_term_type | TF_name |
---|---|---|
GO_RESPIRATORY_GASEOUS_EXCHANGE | BP | MAFB |
GO_REGULATION_OF_OSTEOCLAST_DIFFERENTIATION | BP | MAFB |
GO_SINGLE_ORGANISM_CELL_ADHESION | BP | MAFB |
GO_THYMUS_DEVELOPMENT | BP | MAFB |
GO_IMMUNE_SYSTEM_DEVELOPMENT | BP | MAFB |
GO_REGULATION_OF_LEUKOCYTE_DIFFERENTIATION | BP | MAFB |
GO_REGULATION_OF_MYELOID_CELL_DIFFERENTIATION | BP | MAFB |
GO_REGULATION_OF_HEMOPOIESIS | BP | MAFB |
GO_THYMOCYTE_AGGREGATION | BP | MAFB |
GO_NEGATIVE_REGULATION_OF_HOMEOSTATIC_PROCESS | BP | MAFB |
GO_NEGATIVE_REGULATION_OF_MYELOID_LEUKOCYTE_DIFFERENTIATION | BP | MAFB |
GO_SEGMENTATION | BP | MAFB |
GO_REGULATION_OF_ERYTHROCYTE_DIFFERENTIATION | BP | MAFB |
GO_EAR_MORPHOGENESIS | BP | MAFB |
GO_SEGMENT_SPECIFICATION | BP | MAFB |
GO_LEUKOCYTE_CELL_CELL_ADHESION | BP | MAFB |
GO_NEGATIVE_REGULATION_OF_LEUKOCYTE_DIFFERENTIATION | BP | MAFB |
GO_T_CELL_DIFFERENTIATION | BP | MAFB |
GO_LYMPHOCYTE_DIFFERENTIATION | BP | MAFB |
GO_NEGATIVE_REGULATION_OF_OSTEOCLAST_DIFFERENTIATION | BP | MAFB |
GO_TRANSCRIPTION_FACTOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING | MF | MAFB |
GO_CORE_PROMOTER_PROXIMAL_REGION_DNA_BINDING | MF | MAFB |