Sample ID | Biosample type | Tissue type | Biosample name | TF Frequency |
---|---|---|---|---|
Sample_02_180 | Cell line | Human melanoma | CJM | 1 |
Sample_02_181 | Cell line | Human melanoma | COLO679 | 0.52906666666667 |
Sample_02_183 | Cell line | Skin | SKMEL2 | 0.79487179487179 |
Sample_02_184 | Cell line | Skin | SKMEL30 | 0.62700964630225 |
Sample_02_359 | Cell line | Colon | Colo741 | 0.30722891566265 |
Sample_02_406 | Cell line | Mammary Gland | ZR-75-30_parental | 0.78260869565217 |
Sample ID | Tissue type | Biosample type | Biosample name |
---|---|---|---|
Sample_02_180 | Human melanoma | Cell line | CJM |
Sample_02_183 | Skin | Cell line | SKMEL2 |
Sample_02_184 | Skin | Cell line | SKMEL30 |
Sample_02_406 | Mammary Gland | Cell line | ZR-75-30_parental |
rsID | Chr | Start | Stop | Ref | Alt | Gene_region | Gene_symble | Effect | TCGA_Occurrence |
---|---|---|---|---|---|---|---|---|---|
- | chr22 | 38369790 | 38369790 | G | T | exonic | SOX10 | nonsynonymous | TGCT|1|155|0.00645 |
rs754480545 | chr22 | 38369876 | 38369876 | G | T | exonic | SOX10 | nonsynonymous | LUAD|1|543|0.00184 |
- | chr22 | 38373922 | 38373922 | G | A | exonic | SOX10 | nonsynonymous | SKCM|1|368|0.00272 |
- | chr22 | 38379425 | 38379425 | C | T | exonic | SOX10 | nonsynonymous | UCEC|1|248|0.00403 |
- | chr22 | 38370170 | 38370180 | GGGTGGTTGGA | - | exonic | SOX10 | frameshift | HNSC|1|512|0.00195 |
- | chr22 | 38369836 | 38369836 | A | C | exonic | SOX10 | nonsynonymous | BRCA|1|982|0.00102 |
rs776999856 | chr22 | 38369821 | 38369821 | G | A | exonic | SOX10 | nonsynonymous | UCEC|1|248|0.00403 |
rs770105416 | chr22 | 38369822 | 38369822 | C | T | exonic | SOX10 | nonsynonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr22 | 38369509 | 38369509 | C | T | exonic | SOX10 | nonsynonymous | SKCM|1|368|0.00272 |
- | chr22 | 38373478 | 38375254 | CCACCACGCCCAGCTAATTTTTTTTATTTTTAGTAGAGATGGGATTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCGGCGGCCTCCACAGTCTTTAACTGGCCCTCTTTGCCCAGTAGGATCAGCCCTGGCCAGAGCCATCTCACCCAGCCACTTCCCCTGGCACCGGAACCCCCATGGAGCTCCC | - | exonic | SOX10 | frameshift | - |
- | chr22 | 38369604 | 38369604 | C | T | exonic | SOX10 | synonymous | LIHC|1|373|0.00268 |
- | chr22 | 38379572 | 38379572 | C | T | exonic | SOX10 | nonsynonymous | SKCM|1|368|0.00272 |
rs774324385 | chr22 | 38369997 | 38369997 | C | T | exonic | SOX10 | synonymous | ESCA|1|185|0.00541 |
- | chr22 | 38373997 | 38373997 | C | A | exonic | SOX10 | nonsynonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr22 | 38374019 | 38374019 | G | C | exonic | SOX10 | synonymous | LUAD|1|543|0.00184 |
- | chr22 | 38374132 | 38374132 | C | T | exonic | SOX10 | nonsynonymous | SKCM|1|368|0.00272 |
- | chr22 | 38374016 | 38374016 | C | T | exonic | SOX10 | synonymous | KIPAN|1|799|0.00125,KIRP|1|282|0.00355 |
- | chr22 | 38379476 | 38379476 | G | A | exonic | SOX10 | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
rs761741529 | chr22 | 38369863 | 38369863 | G | A | exonic | SOX10 | nonsynonymous | LUSC|1|178|0.00562 |
- | chr22 | 38373993 | 38373993 | C | T | exonic | SOX10 | nonsynonymous | SKCM|1|368|0.00272 |
- | chr22 | 38369569 | 38369569 | G | C | exonic | SOX10 | stopgain | BLCA|1|396|0.00253 |
- | chr22 | 38369635 | 38369635 | G | A | exonic | SOX10 | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr22 | 38373873 | 38373873 | C | T | splicing | SOX10 | splicing | SKCM|1|368|0.00272 |
- | chr22 | 38379617 | 38379617 | G | A | exonic | SOX10 | stopgain | SKCM|1|368|0.00272 |
- | chr22 | 38369508 | 38369508 | C | T | exonic | SOX10 | synonymous | SKCM|1|368|0.00272 |
- | chr22 | 38379483 | 38379483 | G | A | exonic | SOX10 | synonymous | GBMLGG|1|820|0.00122,LGG|1|530|0.00189 |
- | chr22 | 38379719 | 38379719 | G | A | exonic | SOX10 | nonsynonymous | SKCM|1|368|0.00272 |
- | chr22 | 38370098 | 38370098 | G | A | exonic | SOX10 | nonsynonymous | SKCM|1|368|0.00272 |
- | chr22 | 38369605 | 38369605 | C | T | exonic | SOX10 | nonsynonymous | UCEC|1|248|0.00403 |
rs752595410 | chr22 | 38379482 | 38379482 | C | T | exonic | SOX10 | nonsynonymous | ESCA|1|185|0.00541 |
- | chr22 | 38374047 | 38374047 | G | A | exonic | SOX10 | nonsynonymous | SKCM|1|368|0.00272 |
- | chr22 | 38373874 | 38373874 | C | T | exonic | SOX10 | nonsynonymous | SKCM|1|368|0.00272 |
- | chr22 | 38374040 | 38374040 | C | - | exonic | SOX10 | frameshift | BLCA|1|396|0.00253 |
- | chr22 | 38374042 | 38374042 | G | T | exonic | SOX10 | synonymous | LUAD|1|543|0.00184 |
- | chr22 | 38369825 | 38369825 | T | C | exonic | SOX10 | nonsynonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr22 | 38369715 | 38369715 | G | A | exonic | SOX10 | synonymous | SKCM|1|368|0.00272 |
rs367743809 | chr22 | 38370125 | 38370125 | C | T | exonic | SOX10 | nonsynonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
rs762449567 | chr22 | 38370168 | 38370168 | C | T | exonic | SOX10 | synonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr22 | 38369502 | 38369502 | T | G | exonic | SOX10 | stoploss | GBM|1|290|0.00345,GBMLGG|1|820|0.00122 |
- | chr22 | 38379397 | 38379397 | G | A | exonic | SOX10 | nonsynonymous | ACC|1|90|0.01111 |
- | chr22 | 38373947 | 38373947 | C | T | exonic | SOX10 | synonymous | LUAD|1|543|0.00184 |
- | chr22 | 38379438 | 38379438 | C | T | exonic | SOX10 | synonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr22 | 38370136 | 38370136 | G | - | exonic | SOX10 | frameshift | BRCA|1|982|0.00102 |
- | chr22 | 38369706 | 38369715 | CTGGGGGCGG | - | exonic | SOX10 | frameshift | SKCM|1|368|0.00272 |
- | chr22 | 38373922 | 38373922 | G | T | exonic | SOX10 | nonsynonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr22 | 38379437 | 38379437 | G | A | exonic | SOX10 | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr22 | 38374057 | 38374057 | T | C | exonic | SOX10 | nonsynonymous | SKCM|1|368|0.00272 |
- | chr22 | 38369999 | 38369999 | G | A | exonic | SOX10 | nonsynonymous | BRCA|1|982|0.00102 |
- | chr22 | 38374042 | 38374042 | G | A | exonic | SOX10 | nonsynonymous | COADREAD|1|489|0.00204,READ|1|122|0.00820 |
rs549034055 | chr22 | 38369885 | 38369885 | C | T | exonic | SOX10 | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr22 | 38373929 | 38373929 | G | A | exonic | SOX10 | synonymous | UCEC|1|248|0.00403 |
- | chr22 | 38373898 | 38373898 | - | A | exonic | SOX10 | stopgain | BRCA|1|982|0.00102 |
- | chr22 | 38370097 | 38370097 | G | A | exonic | SOX10 | nonsynonymous | SKCM|1|368|0.00272 |
- | chr22 | 38379576 | 38379576 | G | A | exonic | SOX10 | synonymous | SKCM|1|368|0.00272 |
- | chr22 | 38374120 | 38374120 | G | C | exonic | SOX10 | nonsynonymous | ESCA|1|185|0.00541 |
- | chr22 | 38379656 | 38379656 | G | C | exonic | SOX10 | nonsynonymous | ESCA|1|185|0.00541 |
- | chr22 | 38369571 | 38369571 | G | T | exonic | SOX10 | synonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr22 | 38369841 | 38369841 | G | A | exonic | SOX10 | synonymous | SKCM|1|368|0.00272 |
- | chr22 | 38374051 | 38374051 | - | TACTT | exonic | SOX10 | frameshift | SARC|1|247|0.00405 |
- | chr22 | 38369614 | 38369614 | G | A | exonic | SOX10 | nonsynonymous | PAAD|1|185|0.00541 |
- | chr22 | 38370153 | 38370153 | C | A | exonic | SOX10 | nonsynonymous | SKCM|1|368|0.00272 |
- | chr22 | 38369821 | 38370945 | GCGGTCTCTGTCTTCACCTGGGCTTTGGCATCCACACCAGGTGGTGAGACCGTGGGCAGAGCCACGCCTGGTGGCTTGGAGATCCAGGCGGAGTGTCCACTGGCCACGGCCAGGGCACTGCCCAGCCCATAGCCGGCTGCTGAGTAGCTGCTCACATGGCCTGGGTGCCCATTGGGCGGCAGGTACTGGTCCAACTCAGCCACATCAAAGGTCTCCATGTTGGACATTACCTCGTGGCTGATCTCACCAATGTCC | - | exonic | SOX10 | frameshift | - |
- | chr22 | 38369573 | 38369573 | G | A | exonic | SOX10 | nonsynonymous | SKCM|1|368|0.00272 |
- | chr22 | 38370151 | 38370151 | G | A | exonic | SOX10 | nonsynonymous | SKCM|1|368|0.00272 |
- | chr22 | 38369534 | 38369534 | G | T | exonic | SOX10 | nonsynonymous | UCEC|1|248|0.00403 |
- | chr22 | 38369659 | 38369659 | G | T | exonic | SOX10 | stopgain | LUAD|1|543|0.00184 |
- | chr22 | 38370059 | 38370059 | T | C | exonic | SOX10 | nonsynonymous | SKCM|1|368|0.00272 |
rs779933527 | chr22 | 38373927 | 38373927 | C | T | exonic | SOX10 | nonsynonymous | KIPAN|1|799|0.00125,KIRC|1|451|0.00222 |
- | chr22 | 38369875 | 38369875 | G | T | exonic | SOX10 | nonsynonymous | LUAD|1|543|0.00184 |
- | chr22 | 38369664 | 38369664 | G | A | exonic | SOX10 | synonymous | BRCA|1|982|0.00102 |
rs766407815 | chr22 | 38374133 | 38374133 | G | A | exonic | SOX10 | synonymous | ACC|1|90|0.01111 |
rs773109683 | chr22 | 38370135 | 38370135 | C | T | exonic | SOX10 | synonymous | BRCA|1|982|0.00102 |
- | chr22 | 38379616 | 38379616 | T | C | exonic | SOX10 | nonsynonymous | LIHC|1|373|0.00268 |
- | chr22 | 38379424 | 38379424 | G | A | exonic | SOX10 | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
rs73415876 | chr22 | 38379543 | 38379543 | G | A | exonic | SOX10 | synonymous | DLBC|1|48|0.02083 |
- | chr22 | 38369572 | 38369572 | G | A | exonic | SOX10 | nonsynonymous | SKCM|1|368|0.00272 |
TF_name | Disease_name | Disease_class | Disease_semantic_type | TF_disease_source |
---|---|---|---|---|
SOX10 | Charcot-Marie-Tooth Disease | C10;C16 | Disease or Syndrome | GENOMICS_ENGLAND |
SOX10 | Leukodystrophy | Disease or Syndrome | GENOMICS_ENGLAND | |
SOX10 | Schizophrenia | F03 | Mental or Behavioral Dysfunction | PSYGENET |
SOX10 | Disorders of Sex Development | C12;C13;C16;C19 | Congenital Abnormality | GENOMICS_ENGLAND |
SOX10 | Kallmann Syndrome | C12;C13;C16;C19 | Disease or Syndrome | ORPHANET |
SOX10 | Idiopathic hypogonadotropic hypogonadism | C19 | Disease or Syndrome | GENOMICS_ENGLAND |
SOX10 | Early onset schizophrenia | Mental or Behavioral Dysfunction | PSYGENET | |
SOX10 | Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease | C06;C10;C16 | Disease or Syndrome | CTD_human;ORPHANET;UNIPROT |
SOX10 | WAARDENBURG SYNDROME, TYPE 4A | C06;C16 | Disease or Syndrome | ORPHANET |
SOX10 | Waardenburg Syndrome Type 2 | C16 | Disease or Syndrome | CTD_human;ORPHANET |
SOX10 | WAARDENBURG SYNDROME, TYPE IIE | C16 | Disease or Syndrome | CTD_human;UNIPROT |
SOX10 | Waardenburg Syndrome, Type 4c | C06;C16 | Disease or Syndrome | CLINGEN;CTD_human;UNIPROT |
SOX10 | Waardenburg Syndrome | C16 | Disease or Syndrome | ORPHANET |
SOX10 | Intellectual Disability | C10;C23;F01;F03 | Mental or Behavioral Dysfunction | GENOMICS_ENGLAND |
pathway_ID | pathway_name | pathway_source | gene_number | edge_number |
---|---|---|---|---|
pathway0002747 | Hs_Neural_Crest_Differentiation_WP2064_79263 | wikipathways | 40 | 129 |
GO_term_name | GO_term_type | TF_name |
---|---|---|
GO_POSITIVE_REGULATION_OF_NEUROBLAST_PROLIFERATION | BP | SOX10 |
GO_DIGESTIVE_SYSTEM_DEVELOPMENT | BP | SOX10 |
GO_NEURAL_CREST_CELL_MIGRATION | BP | SOX10 |
GO_CELL_MATURATION | BP | SOX10 |
GO_GLIOGENESIS | BP | SOX10 |
GO_DIGESTIVE_TRACT_MORPHOGENESIS | BP | SOX10 |
GO_POSITIVE_REGULATION_OF_NEURAL_PRECURSOR_CELL_PROLIFERATION | BP | SOX10 |
GO_EXOCRINE_SYSTEM_DEVELOPMENT | BP | SOX10 |
GO_PIGMENT_CELL_DIFFERENTIATION | BP | SOX10 |
GO_REGULATION_OF_NEUROBLAST_PROLIFERATION | BP | SOX10 |
GO_NEGATIVE_REGULATION_OF_CANONICAL_WNT_SIGNALING_PATHWAY | BP | SOX10 |
GO_COLUMNAR_CUBOIDAL_EPITHELIAL_CELL_DIFFERENTIATION | BP | SOX10 |
GO_DEVELOPMENTAL_PIGMENTATION | BP | SOX10 |
GO_ENTERIC_NERVOUS_SYSTEM_DEVELOPMENT | BP | SOX10 |
GO_AUTONOMIC_NERVOUS_SYSTEM_DEVELOPMENT | BP | SOX10 |
GO_OLIGODENDROCYTE_DIFFERENTIATION | BP | SOX10 |
GO_POSITIVE_REGULATION_OF_STEM_CELL_PROLIFERATION | BP | SOX10 |
GO_MELANOCYTE_DIFFERENTIATION | BP | SOX10 |
GO_REGULATION_OF_GLIOGENESIS | BP | SOX10 |
GO_REGULATION_OF_NEURAL_PRECURSOR_CELL_PROLIFERATION | BP | SOX10 |
GO_DEVELOPMENTAL_MATURATION | BP | SOX10 |
GO_NEURAL_CREST_CELL_DIFFERENTIATION | BP | SOX10 |
GO_POSITIVE_REGULATION_OF_GLIOGENESIS | BP | SOX10 |
GO_EXTRINSIC_COMPONENT_OF_ORGANELLE_MEMBRANE | CC | SOX10 |
GO_TRANSCRIPTION_FACTOR_ACTIVITY_RNA_POLYMERASE_II_DISTAL_ENHANCER_SEQUENCE_SPECIFIC_BINDING | MF | SOX10 |
GO_DOUBLE_STRANDED_DNA_BINDING | MF | SOX10 |
GO_TRANSCRIPTIONAL_REPRESSOR_ACTIVITY_RNA_POLYMERASE_II_ACTIVATING_TRANSCRIPTION_FACTOR_BINDING | MF | SOX10 |
GO_MACROMOLECULAR_COMPLEX_BINDING | MF | SOX10 |
GO_RNA_POLYMERASE_II_DISTAL_ENHANCER_SEQUENCE_SPECIFIC_DNA_BINDING | MF | SOX10 |