TF name: | PAX2 |
TF family: | PAX |
Ensembl gene ID: | ENSG00000075891 |
Ensembl protein ID: | ENSP00000396259, ENSP00000355069, ENSP00000452489, ENSP00000347385, ENSP00000398652, ENSP00000359319 |
Entrez gene ID: | 5076 |
Sample ID | Biosample type | Tissue type | Biosample name | TF Frequency |
---|---|---|---|---|
Sample_02_430 | Cell line | Kidney | 12364284 | 0.25 |
Sample ID | Tissue type | Biosample type | Biosample name |
---|---|---|---|
Sample_02_430 | Kidney | Cell line | 12364284 |
rsID | Chr | Start | Stop | Ref | Alt | Gene_region | Gene_symble | Effect | TCGA_Occurrence |
---|---|---|---|---|---|---|---|---|---|
- | chr10 | 102510632 | 102510632 | G | A | exonic | PAX2 | nonsynonymous | COADREAD|1|489|0.00204,READ|1|122|0.00820 |
- | chr10 | 102541064 | 102541064 | C | T | exonic | PAX2 | synonymous | SKCM|1|368|0.00272 |
- | chr10 | 102584454 | 102584454 | C | A | exonic | PAX2 | synonymous | LIHC|1|373|0.00268 |
- | chr10 | 102568873 | 102568873 | G | A | exonic | PAX2 | nonsynonymous | HNSC|1|512|0.00195 |
- | chr10 | 102584662 | 102584662 | C | T | exonic | PAX2 | nonsynonymous | PAAD|1|185|0.00541 |
- | chr10 | 102587325 | 102587325 | C | T | exonic | PAX2 | nonsynonymous | SKCM|1|368|0.00272 |
- | chr10 | 102541073 | 102541073 | G | A | exonic | PAX2 | synonymous | UCEC|1|248|0.00403 |
- | chr10 | 102566190 | 102566190 | T | C | exonic | PAX2 | nonsynonymous | LUAD|1|543|0.00184 |
- | chr10 | 102541090 | 102541090 | G | T | exonic | PAX2 | nonsynonymous | LUAD|1|543|0.00184 |
- | chr10 | 102509555 | 102509555 | C | T | exonic | PAX2 | synonymous | LUAD|1|543|0.00184 |
- | chr10 | 102568959 | 102568959 | C | A | exonic | PAX2 | nonsynonymous | LUSC|1|178|0.00562 |
- | chr10 | 102509535 | 102509535 | G | A | exonic | PAX2 | nonsynonymous | LIHC|1|373|0.00268 |
- | chr10 | 102586780 | 102586780 | G | A | exonic | PAX2 | nonsynonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr10 | 102587329 | 102587329 | - | G | exonic | PAX2 | frameshift | LIHC|1|373|0.00268 |
- | chr10 | 102586776 | 102586776 | C | T | exonic | PAX2 | nonsynonymous | HNSC|1|512|0.00195 |
- | chr10 | 102566350 | 102566350 | C | T | exonic | PAX2 | synonymous | SKCM|1|368|0.00272 |
- | chr10 | 102568881 | 102568881 | C | T | exonic | PAX2 | synonymous | SKCM|1|368|0.00272 |
- | chr10 | 102509612 | 102509612 | C | A | exonic | PAX2 | synonymous | LUAD|1|543|0.00184 |
- | chr10 | 102568924 | 102568924 | C | T | exonic | PAX2 | synonymous | ACC|1|90|0.01111 |
- | chr10 | 102584704 | 102584704 | G | A | exonic | PAX2 | nonsynonymous | SKCM|2|368|0.00543 |
- | chr10 | 102568906 | 102568906 | G | A | exonic | PAX2 | nonsynonymous | UCEC|1|248|0.00403 |
- | chr10 | 102587338 | 102587338 | G | A | exonic | PAX2 | nonsynonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
rs751733764 | chr10 | 102509546 | 102509546 | C | T | exonic | PAX2 | synonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr10 | 102510501 | 102510501 | C | A | exonic | PAX2 | nonsynonymous | BLCA|1|396|0.00253 |
- | chr10 | 102509565 | 102509565 | G | C | exonic | PAX2 | nonsynonymous | LUAD|1|543|0.00184 |
- | chr10 | 102568895 | 102568895 | C | A | exonic | PAX2 | nonsynonymous | LUAD|1|543|0.00184 |
- | chr10 | 102510508 | 102510508 | G | A | exonic | PAX2 | synonymous | BLCA|1|396|0.00253 |
- | chr10 | 102566266 | 102566266 | C | G | exonic | PAX2 | synonymous | LUAD|1|543|0.00184 |
- | chr10 | 102541110 | 102541110 | A | G | exonic | PAX2 | nonsynonymous | GBMLGG|1|820|0.00122,LGG|1|530|0.00189 |
- | chr10 | 102584414 | 102584414 | T | A | exonic | PAX2 | nonsynonymous | LUAD|6|543|0.01105 |
rs768607170 | chr10 | 102509528 | 102509528 | - | G | exonic | PAX2 | frameshift | BRCA|3|982|0.00305,KIPAN|5|799|0.00626,KIRC|5|451|0.01109,STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr10 | 102584451 | 102584451 | - | C | exonic | PAX2 | frameshift | LUAD|1|543|0.00184 |
- | chr10 | 102509514 | 102509514 | G | A | exonic | PAX2 | nonsynonymous | LUAD|4|543|0.00737 |
- | chr10 | 102506039 | 102506039 | G | C | exonic | PAX2 | nonsynonymous | LUSC|1|178|0.00562 |
- | chr10 | 102566235 | 102566235 | A | G | exonic | PAX2 | nonsynonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr10 | 102541041 | 102541041 | A | G | exonic | PAX2 | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr10 | 102509623 | 102509623 | C | T | exonic | PAX2 | nonsynonymous | SKCM|1|368|0.00272 |
- | chr10 | 102568940 | 102568940 | A | G | exonic | PAX2 | nonsynonymous | SKCM|1|368|0.00272 |
- | chr10 | 102587369 | 102587369 | G | A | exonic | PAX2 | nonsynonymous | UCEC|1|248|0.00403 |
rs201381234 | chr10 | 102509561 | 102509561 | C | T | exonic | PAX2 | synonymous | PAAD|1|185|0.00541 |
rs770252038 | chr10 | 102509565 | 102509565 | G | A | exonic | PAX2 | nonsynonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr10 | 102584721 | 102584721 | C | A | exonic | PAX2 | nonsynonymous | LUAD|1|543|0.00184 |
- | chr10 | 102584473 | 102584473 | T | G | exonic | PAX2 | nonsynonymous | LUAD|1|543|0.00184 |
rs371041678 | chr10 | 102509534 | 102509534 | G | A | exonic | PAX2 | synonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr10 | 102509607 | 102509607 | C | T | exonic | PAX2 | nonsynonymous | GBMLGG|1|820|0.00122,LGG|1|530|0.00189 |
- | chr10 | 102566275 | 102566275 | G | T | exonic | PAX2 | nonsynonymous | LUAD|1|543|0.00184 |
- | chr10 | 102546746 | 102546746 | G | C | exonic | PAX2 | nonsynonymous | LUAD|1|543|0.00184 |
- | chr10 | 102509502 | 102509502 | G | A | splicing | PAX2 | splicing | PAAD|1|185|0.00541 |
- | chr10 | 102539287 | 102539287 | A | T | exonic | PAX2 | nonsynonymous | LUAD|1|543|0.00184 |
rs142737641 | chr10 | 102566243 | 102566243 | C | T | exonic | PAX2 | nonsynonymous | COADREAD|1|489|0.00204,READ|1|122|0.00820 |
- | chr10 | 102546733 | 102546733 | G | A | exonic | PAX2 | nonsynonymous | SKCM|1|368|0.00272 |
- | chr10 | 102568945 | 102568945 | G | C | exonic | PAX2 | nonsynonymous | BLCA|1|396|0.00253 |
- | chr10 | 102586788 | 102586788 | G | T | exonic | PAX2 | nonsynonymous | LUAD|1|543|0.00184 |
rs762289848 | chr10 | 102541061 | 102541061 | C | T | exonic | PAX2 | synonymous | BLCA|1|396|0.00253 |
rs777494044 | chr10 | 102568920 | 102568920 | G | C | exonic | PAX2 | synonymous | BLCA|1|396|0.00253 |
- | chr10 | 102509593 | 102509593 | C | - | exonic | PAX2 | frameshift | LUAD|2|543|0.00368 |
- | chr10 | 102566317 | 102566317 | C | T | exonic | PAX2 | synonymous | HNSC|1|512|0.00195 |
- | chr10 | 102566342 | 102566342 | G | A | exonic | PAX2 | nonsynonymous | SKCM|1|368|0.00272 |
- | chr10 | 102509533 | 102509533 | - | A | exonic | PAX2 | frameshift | ACC|1|90|0.01111 |
- | chr10 | 102584444 | 102584444 | C | T | exonic | PAX2 | nonsynonymous | LUAD|1|543|0.00184,SKCM|2|368|0.00543 |
- | chr10 | 102584701 | 102584701 | G | A | exonic | PAX2 | nonsynonymous | SKCM|1|368|0.00272 |
rs753350907 | chr10 | 102566256 | 102566256 | G | A | exonic | PAX2 | nonsynonymous | SKCM|1|368|0.00272 |
- | chr10 | 102587329 | 102587329 | C | G | exonic | PAX2 | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr10 | 102587324 | 102587324 | C | - | exonic | PAX2 | frameshift | COAD|2|367|0.00545,COADREAD|2|489|0.00409,HNSC|1|512|0.00195,STAD|8|395|0.02025,STES|8|395|0.02025 |
- | chr10 | 102510548 | 102510548 | C | T | exonic | PAX2 | stopgain | GBM|1|290|0.00345,GBMLGG|1|820|0.00122 |
rs751964564 | chr10 | 102566297 | 102566297 | C | T | exonic | PAX2 | nonsynonymous | SKCM|2|368|0.00543 |
rs765955789 | chr10 | 102566244 | 102566244 | G | A | exonic | PAX2 | nonsynonymous | BLCA|1|396|0.00253,COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr10 | 102510539 | 102510539 | G | T | exonic | PAX2 | stopgain | HNSC|2|512|0.00391 |
rs777054297 | chr10 | 102584408 | 102584408 | G | A | exonic | PAX2 | nonsynonymous | BRCA|1|982|0.00102 |
rs757420847 | chr10 | 102584735 | 102584735 | A | G | exonic | PAX2 | synonymous | SKCM|2|368|0.00543 |
- | chr10 | 102509528 | 102509528 | C | T | exonic | PAX2 | synonymous | BLCA|1|396|0.00253 |
- | chr10 | 102584502 | 102584502 | G | A | exonic | PAX2 | synonymous | HNSC|1|512|0.00195 |
- | chr10 | 102566224 | 102566224 | G | C | exonic | PAX2 | nonsynonymous | LUSC|1|178|0.00562 |
rs750453189 | chr10 | 102587323 | 102587323 | - | C | exonic | PAX2 | frameshift | PAAD|2|185|0.01081 |
TF_name | Disease_name | Disease_class | Disease_semantic_type | TF_disease_source |
---|---|---|---|---|
PAX2 | Ataxias, Hereditary | C10;C16 | Disease or Syndrome | GENOMICS_ENGLAND |
PAX2 | Congenital ocular coloboma (disorder) | C11;C16 | Congenital Abnormality | GENOMICS_ENGLAND |
PAX2 | Endometriosis | C13 | Disease or Syndrome | CTD_human |
PAX2 | Focal glomerulosclerosis | C12;C13 | Disease or Syndrome | CTD_human |
PAX2 | Kidney Failure, Chronic | C12;C13 | Disease or Syndrome | CTD_human |
PAX2 | Hyalinosis, Segmental Glomerular | C12;C13 | Disease or Syndrome | CTD_human |
PAX2 | Endometrioma | C13 | Neoplastic Process | CTD_human |
PAX2 | Bilateral renal hypoplasia | Congenital Abnormality | ORPHANET | |
PAX2 | Congenital absence of kidneys syndrome | C12;C13;C16 | Disease or Syndrome | CTD_human |
PAX2 | Female Urogenital Diseases | C13 | Disease or Syndrome | CTD_human |
PAX2 | Papillorenal syndrome | C11;C12;C13;C16 | Disease or Syndrome | CTD_human;ORPHANET;UNIPROT |
PAX2 | Cakut | C12;C13;C16 | Disease or Syndrome | GENOMICS_ENGLAND |
PAX2 | RENAL HYPOPLASIA, ISOLATED (disorder) | C11;C12;C13;C16 | Disease or Syndrome | CTD_human |
PAX2 | Intellectual Disability | C10;C23;F01;F03 | Mental or Behavioral Dysfunction | GENOMICS_ENGLAND |
PAX2 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7 | Disease or Syndrome | UNIPROT |
pathway_ID | pathway_name | pathway_source | gene_number | edge_number |
---|---|---|---|---|
pathway0001078 | ID | netpath | 38 | 213 |
pathway0002878 | Hs_ID_signaling_pathway_WP53_67360 | wikipathways | 8 | 12 |
GO_term_name | GO_term_type | TF_name |
---|---|---|
GO_POSITIVE_REGULATION_OF_EPITHELIAL_CELL_DIFFERENTIATION | BP | PAX2 |
GO_NEGATIVE_REGULATION_OF_KIDNEY_DEVELOPMENT | BP | PAX2 |
GO_METANEPHRIC_NEPHRON_MORPHOGENESIS | BP | PAX2 |
GO_POSITIVE_REGULATION_OF_METANEPHROS_DEVELOPMENT | BP | PAX2 |
GO_URETER_DEVELOPMENT | BP | PAX2 |
GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION | BP | PAX2 |
GO_CELLULAR_RESPONSE_TO_EPIDERMAL_GROWTH_FACTOR_STIMULUS | BP | PAX2 |
GO_REGULATION_OF_MORPHOGENESIS_OF_A_BRANCHING_STRUCTURE | BP | PAX2 |
GO_METANEPHROS_DEVELOPMENT | BP | PAX2 |
GO_MESENCHYMAL_TO_EPITHELIAL_TRANSITION | BP | PAX2 |
GO_METANEPHRIC_EPITHELIUM_DEVELOPMENT | BP | PAX2 |
GO_REGULATION_OF_HYDROLASE_ACTIVITY | BP | PAX2 |
GO_NEGATIVE_REGULATION_OF_STEM_CELL_DIFFERENTIATION | BP | PAX2 |
GO_NEGATIVE_REGULATION_OF_REACTIVE_OXYGEN_SPECIES_METABOLIC_PROCESS | BP | PAX2 |
GO_POSITIVE_REGULATION_OF_KIDNEY_DEVELOPMENT | BP | PAX2 |
GO_RENAL_VESICLE_DEVELOPMENT | BP | PAX2 |
GO_CRANIAL_NERVE_MORPHOGENESIS | BP | PAX2 |
GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS | BP | PAX2 |
GO_CELL_DIFFERENTIATION_INVOLVED_IN_METANEPHROS_DEVELOPMENT | BP | PAX2 |
GO_REGULATION_OF_EPITHELIAL_CELL_DIFFERENTIATION_INVOLVED_IN_KIDNEY_DEVELOPMENT | BP | PAX2 |
GO_CELLULAR_RESPONSE_TO_ACID_CHEMICAL | BP | PAX2 |
GO_CRANIAL_NERVE_DEVELOPMENT | BP | PAX2 |
GO_ORGAN_MATURATION | BP | PAX2 |
GO_RESPONSE_TO_EPIDERMAL_GROWTH_FACTOR | BP | PAX2 |
GO_SPECIFICATION_OF_ORGAN_IDENTITY | BP | PAX2 |
GO_ANATOMICAL_STRUCTURE_ARRANGEMENT | BP | PAX2 |
GO_REGULATION_OF_MESONEPHROS_DEVELOPMENT | BP | PAX2 |
GO_RESPONSE_TO_INORGANIC_SUBSTANCE | BP | PAX2 |
GO_ORGAN_FORMATION | BP | PAX2 |
GO_ANATOMICAL_STRUCTURE_MATURATION | BP | PAX2 |
GO_NEPHRIC_DUCT_DEVELOPMENT | BP | PAX2 |
GO_REGULATION_OF_KIDNEY_DEVELOPMENT | BP | PAX2 |
GO_MESENCHYMAL_CELL_DIFFERENTIATION | BP | PAX2 |
GO_CELL_DIFFERENTIATION_INVOLVED_IN_KIDNEY_DEVELOPMENT | BP | PAX2 |
GO_CELL_FATE_COMMITMENT_INVOLVED_IN_FORMATION_OF_PRIMARY_GERM_LAYER | BP | PAX2 |
GO_REGULATION_OF_MESENCHYMAL_CELL_APOPTOTIC_PROCESS | BP | PAX2 |
GO_EMBRYONIC_CAMERA_TYPE_EYE_MORPHOGENESIS | BP | PAX2 |
GO_NEPHRON_EPITHELIUM_DEVELOPMENT | BP | PAX2 |
GO_METANEPHRIC_RENAL_VESICLE_MORPHOGENESIS | BP | PAX2 |
GO_PROTEIN_KINASE_B_SIGNALING | BP | PAX2 |
GO_OPTIC_NERVE_DEVELOPMENT | BP | PAX2 |
GO_BRANCHING_INVOLVED_IN_URETERIC_BUD_MORPHOGENESIS | BP | PAX2 |
GO_MESONEPHRIC_TUBULE_MORPHOGENESIS | BP | PAX2 |
GO_NERVE_DEVELOPMENT | BP | PAX2 |
GO_MESODERM_MORPHOGENESIS | BP | PAX2 |
GO_RESPONSE_TO_EXTRACELLULAR_STIMULUS | BP | PAX2 |
GO_DISTAL_TUBULE_DEVELOPMENT | BP | PAX2 |
GO_REGULATION_OF_GLOMERULUS_DEVELOPMENT | BP | PAX2 |
GO_METANEPHRIC_NEPHRON_DEVELOPMENT | BP | PAX2 |
GO_REGULATION_OF_STEM_CELL_POPULATION_MAINTENANCE | BP | PAX2 |
GO_NEGATIVE_REGULATION_OF_CYSTEINE_TYPE_ENDOPEPTIDASE_ACTIVITY | BP | PAX2 |
GO_RESPONSE_TO_LIPID | BP | PAX2 |
GO_MESODERMAL_CELL_DIFFERENTIATION | BP | PAX2 |
GO_METANEPHRIC_MESENCHYME_DEVELOPMENT | BP | PAX2 |
GO_CELL_FATE_DETERMINATION | BP | PAX2 |
GO_REGULATION_OF_METANEPHROS_DEVELOPMENT | BP | PAX2 |
GO_KIDNEY_MESENCHYME_DEVELOPMENT | BP | PAX2 |
GO_COCHLEA_DEVELOPMENT | BP | PAX2 |
GO_CELLULAR_COMPONENT_MORPHOGENESIS | BP | PAX2 |
GO_MORPHOGENESIS_OF_A_BRANCHING_STRUCTURE | BP | PAX2 |
GO_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS | BP | PAX2 |
GO_COCHLEA_MORPHOGENESIS | BP | PAX2 |
GO_EPITHELIAL_CELL_MORPHOGENESIS | BP | PAX2 |
GO_EMBRYONIC_EYE_MORPHOGENESIS | BP | PAX2 |
GO_CELL_FATE_SPECIFICATION | BP | PAX2 |
GO_KIDNEY_MORPHOGENESIS | BP | PAX2 |
GO_COLLECTING_DUCT_DEVELOPMENT | BP | PAX2 |
GO_NEPHRON_TUBULE_FORMATION | BP | PAX2 |
GO_NEPHRON_DEVELOPMENT | BP | PAX2 |
GO_REACTIVE_OXYGEN_SPECIES_METABOLIC_PROCESS | BP | PAX2 |
GO_MESONEPHROS_DEVELOPMENT | BP | PAX2 |
GO_MESODERMAL_CELL_FATE_COMMITMENT | BP | PAX2 |
GO_EMBRYONIC_CAMERA_TYPE_EYE_FORMATION | BP | PAX2 |
GO_REGULATION_OF_CELL_PROLIFERATION | BP | PAX2 |
GO_EMBRYONIC_CAMERA_TYPE_EYE_DEVELOPMENT | BP | PAX2 |
GO_CELLULAR_RESPONSE_TO_REACTIVE_OXYGEN_SPECIES | BP | PAX2 |
GO_CELLULAR_RESPONSE_TO_OXIDATIVE_STRESS | BP | PAX2 |
GO_NEPHRIC_DUCT_MORPHOGENESIS | BP | PAX2 |
GO_POSITIVE_REGULATION_OF_MESONEPHROS_DEVELOPMENT | BP | PAX2 |
GO_RESPONSE_TO_HYDROGEN_PEROXIDE | BP | PAX2 |
GO_METANEPHROS_MORPHOGENESIS | BP | PAX2 |
GO_INNER_EAR_MORPHOGENESIS | BP | PAX2 |
GO_NEGATIVE_REGULATION_OF_PEPTIDASE_ACTIVITY | BP | PAX2 |
GO_REGULATION_OF_STEM_CELL_DIFFERENTIATION | BP | PAX2 |
GO_BRAIN_MORPHOGENESIS | BP | PAX2 |
GO_MICROTUBULE_ORGANIZING_CENTER_PART | CC | PAX2 |
GO_CENTRIOLAR_SATELLITE | CC | PAX2 |
GO_SUPEROXIDE_GENERATING_NADPH_OXIDASE_ACTIVITY | MF | PAX2 |
GO_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_NAD_P_H_OXYGEN_AS_ACCEPTOR | MF | PAX2 |
GO_TRANSCRIPTION_FACTOR_BINDING | MF | PAX2 |