TF name: | TFAP2A |
TF family: | AP-2 |
Ensembl gene ID: | ENSG00000137203 |
Ensembl protein ID: | ENSP00000419961, ENSP00000368928, ENSP00000418541, ENSP00000316516, ENSP00000417735, ENSP00000417495, ENSP00000368933, ENSP00000419696 |
Entrez gene ID: | 7020 |
Sample ID | Biosample type | Tissue type | Biosample name | TF Frequency |
---|---|---|---|---|
Sample_02_006 | Other | Cervical | cervical-cancer_parental | 0.5 |
Sample_02_007 | Other | Cervical | cervical-cancer_vector | 0.45033112582781 |
Sample_02_021 | Cell line | Colon | V429 | 0.88008071490343 |
Sample_02_029 | Cell line | Colorectal | LS174T | 0.33333333333333 |
Sample_02_069 | Cell line | Brain | SF268 | 0.16030534351145 |
Sample_02_079 | Cell line | Mammary Gland | T-47D_1 | 1 |
Sample_02_080 | Cell line | Lung | Calu-3 | 0.31818181818182 |
Sample_02_095 | Cell line | Mammary Gland | MDA-MB-468 | 0.45719844357977 |
Sample_02_096 | Cell line | Mammary Gland | ZR-75-1_1 | 1 |
Sample_02_114 | Cell line | Mammary Gland | CAL51 | 0.92964824120603 |
Sample_02_115 | Cell line | Mammary Gland | MCF-7 | 0.6 |
Sample_02_166 | Cell line | Mammary Gland | HCC1954_Parental | 0.6 |
Sample_02_179 | Cell line | Urinary bladder | T24 | 0.94252873563218 |
Sample_02_180 | Cell line | Human melanoma | CJM | 0.625 |
Sample_02_182 | Cell line | Human melanoma | LOX-IMVI | 0.30747126436782 |
Sample_02_184 | Cell line | Skin | SKMEL30 | 0.20578778135048 |
Sample_02_196 | Cell line | Stomach | NCC59 | 0.35714285714286 |
Sample_02_219 | Cell line | Mammary Gland | MDA-MB-231 | 1 |
Sample_02_228 | Cell line | Oesophagus | KYSE510 | 0.8685927306617 |
Sample_02_258 | Other | Lung | NCI-H1299_EGFP-NEO_reporter_cells_DMSO | 0.055555555555556 |
Sample_02_358 | Cell line | Colon | LS180 | 0.82030015797788 |
Sample_02_359 | Cell line | Colon | Colo741 | 0.48795180722892 |
Sample_02_394 | Cell line | Mammary Gland | T-47D_2 | 1 |
Sample_02_395 | Cell line | Mammary Gland | BT-549 | 0.68559440559441 |
Sample_02_403 | Cell line | Mammary Gland | T-47D_untreat | 1 |
Sample_02_404 | Cell line | Mammary Gland | ZR-75-1_2 | 0.56115107913669 |
Sample ID | Tissue type | Biosample type | Biosample name |
---|---|---|---|
Sample_02_006 | Cervical | Other | cervical-cancer_parental |
Sample_02_007 | Cervical | Other | cervical-cancer_vector |
Sample_02_021 | Colon | Cell line | V429 |
Sample_02_029 | Colorectal | Cell line | LS174T |
Sample_02_079 | Mammary Gland | Cell line | T-47D_1 |
Sample_02_096 | Mammary Gland | Cell line | ZR-75-1_1 |
Sample_02_114 | Mammary Gland | Cell line | CAL51 |
Sample_02_166 | Mammary Gland | Cell line | HCC1954_Parental |
Sample_02_179 | Urinary bladder | Cell line | T24 |
Sample_02_219 | Mammary Gland | Cell line | MDA-MB-231 |
Sample_02_228 | Oesophagus | Cell line | KYSE510 |
Sample_02_358 | Colon | Cell line | LS180 |
Sample_02_359 | Colon | Cell line | Colo741 |
Sample_02_394 | Mammary Gland | Cell line | T-47D_2 |
Sample_02_395 | Mammary Gland | Cell line | BT-549 |
Sample_02_403 | Mammary Gland | Cell line | T-47D_untreat |
Sample_02_404 | Mammary Gland | Cell line | ZR-75-1_2 |
rsID | Chr | Start | Stop | Ref | Alt | Gene_region | Gene_symble | Effect | TCGA_Occurrence |
---|---|---|---|---|---|---|---|---|---|
- | chr6 | 10398662 | 10398662 | C | G | exonic | TFAP2A | nonsynonymous | BLCA|1|396|0.00253 |
- | chr6 | 10402728 | 10402728 | C | A | exonic | TFAP2A | stopgain | ESCA|1|185|0.00541 |
- | chr6 | 10410495 | 10410495 | G | A | exonic | TFAP2A | nonsynonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr6 | 10398754 | 10398754 | C | T | exonic | TFAP2A | nonsynonymous | UCEC|1|248|0.00403 |
- | chr6 | 10404875 | 10404875 | G | T | exonic | TFAP2A | synonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr6 | 10402804 | 10402804 | T | - | exonic | TFAP2A | frameshift | STAD|1|395|0.00253,STES|1|395|0.00253 |
rs1803117 | chr6 | 10400743 | 10400743 | G | A | exonic | TFAP2A | synonymous | HNSC|1|512|0.00195 |
- | chr6 | 10404773 | 10404773 | G | C | exonic | TFAP2A | synonymous | BLCA|1|396|0.00253 |
- | chr6 | 10404880 | 10404880 | C | T | exonic | TFAP2A | nonsynonymous | BRCA|1|982|0.00102 |
- | chr6 | 10398904 | 10398904 | G | C | exonic | TFAP2A | nonsynonymous | BLCA|1|396|0.00253 |
- | chr6 | 10398686 | 10398686 | G | T | exonic | TFAP2A | synonymous | SKCM|1|368|0.00272 |
- | chr6 | 10404901 | 10404901 | C | T | exonic | TFAP2A | nonsynonymous | LUAD|1|543|0.00184 |
- | chr6 | 10398887 | 10398887 | C | T | exonic | TFAP2A | synonymous | LUAD|4|543|0.00737 |
rs756122879 | chr6 | 10400781 | 10400781 | C | T | exonic | TFAP2A | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr6 | 10410368 | 10410368 | C | T | exonic | TFAP2A | synonymous | BRCA|1|982|0.00102 |
- | chr6 | 10400725 | 10400725 | A | T | exonic | TFAP2A | nonsynonymous | SARC|1|247|0.00405 |
- | chr6 | 10398847 | 10398847 | G | C | exonic | TFAP2A | nonsynonymous | BLCA|1|396|0.00253 |
- | chr6 | 10410284 | 10410284 | C | G | exonic | TFAP2A | synonymous | LUAD|1|543|0.00184 |
- | chr6 | 10410439 | 10410439 | G | A | exonic | TFAP2A | nonsynonymous | HNSC|1|512|0.00195 |
- | chr6 | 10402728 | 10402728 | C | G | exonic | TFAP2A | nonsynonymous | HNSC|1|512|0.00195 |
- | chr6 | 10398657 | 10398657 | C | T | exonic | TFAP2A | nonsynonymous | BRCA|1|982|0.00102,HNSC|1|512|0.00195 |
- | chr6 | 10398872 | 10398872 | G | A | exonic | TFAP2A | synonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr6 | 10410388 | 10410388 | C | T | exonic | TFAP2A | nonsynonymous | UCEC|1|248|0.00403 |
- | chr6 | 10404842 | 10404842 | G | T | exonic | TFAP2A | synonymous | LUAD|1|543|0.00184 |
- | chr6 | 10400775 | 10400775 | C | T | exonic | TFAP2A | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204,UCEC|2|248|0.00806 |
rs151344526 | chr6 | 10404781 | 10404781 | C | T | exonic | TFAP2A | nonsynonymous | CESC|1|194|0.00515,HNSC|1|512|0.00195 |
- | chr6 | 10410153 | 10410153 | T | C | exonic | TFAP2A | nonsynonymous | KICH|1|66|0.01515,KIPAN|1|799|0.00125 |
- | chr6 | 10410138 | 10410138 | A | G | exonic | TFAP2A | nonsynonymous | BRCA|2|982|0.00204 |
- | chr6 | 10410399 | 10410399 | G | A | exonic | TFAP2A | nonsynonymous | BLCA|1|396|0.00253 |
- | chr6 | 10404933 | 10404933 | G | A | exonic | TFAP2A | nonsynonymous | BLCA|1|396|0.00253 |
- | chr6 | 10410393 | 10410393 | G | A | exonic | TFAP2A | nonsynonymous | GBM|1|290|0.00345,GBMLGG|1|820|0.00122 |
rs575186761 | chr6 | 10400727 | 10400727 | C | T | exonic | TFAP2A | nonsynonymous | UCEC|1|248|0.00403 |
- | chr6 | 10415182 | 10415182 | C | A | exonic | TFAP2A | nonsynonymous | LUAD|1|543|0.00184 |
- | chr6 | 10398786 | 10398786 | G | A | exonic | TFAP2A | nonsynonymous | GBMLGG|1|820|0.00122,LGG|1|530|0.00189 |
- | chr6 | 10410440 | 10410440 | G | A | exonic | TFAP2A | synonymous | SKCM|1|368|0.00272 |
- | chr6 | 10419699 | 10419699 | C | A | UTR5 | TFAP2A | unknown | PAAD|1|185|0.00541 |
- | chr6 | 10402829 | 10402829 | T | - | exonic | TFAP2A | frameshift | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr6 | 10398921 | 10398921 | A | C | exonic | TFAP2A | nonsynonymous | BRCA|1|982|0.00102 |
rs779173083 | chr6 | 10410446 | 10410446 | T | G | exonic | TFAP2A | synonymous | LUAD|1|543|0.00184 |
- | chr6 | 10402739 | 10402739 | G | T | exonic | TFAP2A | nonsynonymous | TGCT|1|155|0.00645 |
- | chr6 | 10400783 | 10400783 | C | A | exonic | TFAP2A | nonsynonymous | ESCA|1|185|0.00541 |
- | chr6 | 10400738 | 10400738 | C | G | exonic | TFAP2A | nonsynonymous | BLCA|1|396|0.00253 |
- | chr6 | 10398750 | 10398750 | G | T | exonic | TFAP2A | nonsynonymous | LIHC|1|373|0.00268 |
- | chr6 | 10410338 | 10410338 | C | T | exonic | TFAP2A | synonymous | BLCA|1|396|0.00253 |
rs201591227 | chr6 | 10398708 | 10398708 | T | G | exonic | TFAP2A | nonsynonymous | KIPAN|1|799|0.00125,KIRP|1|282|0.00355 |
- | chr6 | 10404834 | 10404834 | G | T | exonic | TFAP2A | nonsynonymous | BLCA|1|396|0.00253 |
- | chr6 | 10415202 | 10415202 | G | A | exonic | TFAP2A | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr6 | 10398689 | 10398689 | G | C | exonic | TFAP2A | nonsynonymous | KIPAN|1|799|0.00125,KIRP|1|282|0.00355 |
- | chr6 | 10400698 | 10400698 | - | T | exonic | TFAP2A | frameshift | SKCM|1|368|0.00272 |
- | chr6 | 10410431 | 10410431 | G | A | exonic | TFAP2A | synonymous | SKCM|2|368|0.00543 |
- | chr6 | 10404933 | 10404933 | G | C | exonic | TFAP2A | nonsynonymous | HNSC|1|512|0.00195,LUAD|1|543|0.00184 |
- | chr6 | 10398931 | 10398931 | A | G | exonic | TFAP2A | nonsynonymous | BRCA|1|982|0.00102 |
- | chr6 | 10419659 | 10419659 | C | A | exonic | TFAP2A | nonsynonymous | LUAD|1|543|0.00184,SKCM|1|368|0.00272 |
rs754476051 | chr6 | 10410434 | 10410434 | T | G | exonic | TFAP2A | synonymous | PAAD|1|185|0.00541 |
- | chr6 | 10407038 | 10407038 | C | - | exonic | TFAP2A | stopgain | ESCA|1|185|0.00541 |
- | chr6 | 10398935 | 10398935 | C | G | exonic | TFAP2A | nonsynonymous | BLCA|1|396|0.00253 |
- | chr6 | 10407063 | 10407063 | C | G | exonic | TFAP2A | synonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr6 | 10404765 | 10404765 | G | A | exonic | TFAP2A | nonsynonymous | CESC|1|194|0.00515 |
rs779059756 | chr6 | 10398806 | 10398806 | G | A | exonic | TFAP2A | synonymous | LUAD|1|543|0.00184 |
- | chr6 | 10410329 | 10410329 | G | C | exonic | TFAP2A | synonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
rs745981703 | chr6 | 10398701 | 10398701 | G | A | exonic | TFAP2A | synonymous | HNSC|1|512|0.00195 |
- | chr6 | 10410525 | 10410525 | - | G | exonic | TFAP2A | frameshift | HNSC|1|512|0.00195 |
rs377114324 | chr6 | 10400787 | 10400787 | C | T | exonic | TFAP2A | nonsynonymous | UCEC|1|248|0.00403 |
rs766641930 | chr6 | 10410257 | 10410257 | C | T | exonic | TFAP2A | synonymous | UCEC|1|248|0.00403 |
- | chr6 | 10404842 | 10404842 | G | A | exonic | TFAP2A | synonymous | BLCA|1|396|0.00253 |
rs200131527 | chr6 | 10410363 | 10410363 | G | A | exonic | TFAP2A | nonsynonymous | SKCM|1|368|0.00272 |
- | chr6 | 10415192 | 10415192 | G | A | exonic | TFAP2A | synonymous | BRCA|1|982|0.00102 |
- | chr6 | 10398771 | 10398771 | A | G | exonic | TFAP2A | nonsynonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr6 | 10402840 | 10402840 | C | T | exonic | TFAP2A | synonymous | UCEC|1|248|0.00403 |
- | chr6 | 10415208 | 10415208 | T | G | exonic | TFAP2A | nonsynonymous | UCEC|1|248|0.00403 |
- | chr6 | 10410427 | 10410427 | G | A | exonic | TFAP2A | stopgain | BLCA|2|396|0.00505 |
- | chr6 | 10415184 | 10415184 | T | G | exonic | TFAP2A | nonsynonymous | STAD|2|395|0.00506,STES|2|395|0.00506 |
- | chr6 | 10419705 | 10419705 | A | G | UTR5 | TFAP2A | unknown | STAD|1|395|0.00253,STES|1|395|0.00253 |
- | chr6 | 10398805 | 10398805 | C | T | exonic | TFAP2A | nonsynonymous | UCEC|1|248|0.00403 |
- | chr6 | 10410201 | 10410201 | T | C | exonic | TFAP2A | nonsynonymous | LIHC|1|373|0.00268 |
- | chr6 | 10404789 | 10404789 | G | A | exonic | TFAP2A | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr6 | 10419816 | 10419816 | G | A | upstream | TFAP2A | unknown | BRCA|1|982|0.00102 |
- | chr6 | 10410466 | 10410466 | - | G | exonic | TFAP2A | frameshift | KIPAN|1|799|0.00125,KIRC|1|451|0.00222 |
- | chr6 | 10402725 | 10402725 | C | A | exonic | TFAP2A | stopgain | LUAD|1|543|0.00184 |
- | chr6 | 10398916 | 10398916 | C | A | exonic | TFAP2A | nonsynonymous | LUAD|1|543|0.00184 |
- | chr6 | 10402730 | 10402730 | A | C | exonic | TFAP2A | nonsynonymous | CESC|1|194|0.00515 |
- | chr6 | 10411817 | 10411817 | T | A | exonic | TFAP2A | nonsynonymous | LUAD|1|543|0.00184 |
- | chr6 | 10410384 | 10410384 | T | C | exonic | TFAP2A | nonsynonymous | UCEC|1|248|0.00403 |
- | chr6 | 10415218 | 10415218 | T | G | exonic | TFAP2A | nonsynonymous | UCEC|1|248|0.00403 |
- | chr6 | 10410244 | 10410244 | G | A | exonic | TFAP2A | nonsynonymous | UCEC|1|248|0.00403 |
- | chr6 | 10400740 | 10400740 | G | A | exonic | TFAP2A | synonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
- | chr6 | 10415183 | 10415183 | C | G | exonic | TFAP2A | nonsynonymous | LUAD|1|543|0.00184 |
- | chr6 | 10419655 | 10419655 | C | A | exonic | TFAP2A | nonsynonymous | UCEC|1|248|0.00403 |
TF_name | Disease_name | Disease_class | Disease_semantic_type | TF_disease_source |
---|---|---|---|---|
TFAP2A | Malignant neoplasm of breast | C04;C17 | Neoplastic Process | CTD_human |
TFAP2A | Congenital ocular coloboma (disorder) | C11;C16 | Congenital Abnormality | GENOMICS_ENGLAND |
TFAP2A | Eye Abnormalities | C11;C16 | Congenital Abnormality | CTD_human |
TFAP2A | Kidney Diseases | C12;C13 | Disease or Syndrome | CTD_human |
TFAP2A | Schizophrenia | F03 | Mental or Behavioral Dysfunction | PSYGENET |
TFAP2A | Cataract | C11 | Acquired Abnormality | GENOMICS_ENGLAND |
TFAP2A | Polydactyly | C05;C16 | Congenital Abnormality | GENOMICS_ENGLAND |
TFAP2A | Branchio-Oto-Renal Syndrome | C16 | Disease or Syndrome | CTD_human |
TFAP2A | Branchio-Oculo-Facial Syndrome | C16 | Disease or Syndrome | CTD_human;ORPHANET;UNIPROT |
TFAP2A | Craniofacial Abnormalities | C05;C16 | Congenital Abnormality | CTD_human |
TFAP2A | Breast Carcinoma | C04;C17 | Neoplastic Process | CTD_human |
TFAP2A | Mammary Neoplasms, Human | C04;C17 | Neoplastic Process | CTD_human |
TFAP2A | Mammary Neoplasms | C04;C17 | Neoplastic Process | CTD_human |
TFAP2A | Branchiootorenal Syndrome 2 | C16 | Disease or Syndrome | CTD_human |
TFAP2A | Intellectual Disability | C10;C23;F01;F03 | Mental or Behavioral Dysfunction | GENOMICS_ENGLAND |
pathway_ID | pathway_name | pathway_source | gene_number | edge_number |
---|---|---|---|---|
pathway0002699 | Hs_Corticotropin-releasing_hormone_signaling_pathway_WP2355_90017 | wikipathways | 41 | 162 |
pathway0002747 | Hs_Neural_Crest_Differentiation_WP2064_79263 | wikipathways | 40 | 129 |
pathway0002841 | Hs_Ectoderm_Differentiation_WP2858_89329 | wikipathways | 56 | 137 |
pathway0002849 | Hs_Hypothetical_Craniofacial_Development_Pathway_WP3655_88473 | wikipathways | 5 | 6 |
GO_term_name | GO_term_type | TF_name |
---|---|---|
GO_NEGATIVE_REGULATION_OF_REACTIVE_OXYGEN_SPECIES_METABOLIC_PROCESS | BP | TFAP2A |
GO_MORPHOGENESIS_OF_AN_EPITHELIUM | BP | TFAP2A |
GO_CRANIAL_NERVE_MORPHOGENESIS | BP | TFAP2A |
GO_NEURAL_RETINA_DEVELOPMENT | BP | TFAP2A |
GO_FORELIMB_MORPHOGENESIS | BP | TFAP2A |
GO_CRANIAL_NERVE_DEVELOPMENT | BP | TFAP2A |
GO_ANATOMICAL_STRUCTURE_ARRANGEMENT | BP | TFAP2A |
GO_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER | BP | TFAP2A |
GO_PALATE_DEVELOPMENT | BP | TFAP2A |
GO_REGULATION_OF_BIOMINERAL_TISSUE_DEVELOPMENT | BP | TFAP2A |
GO_EMBRYONIC_FORELIMB_MORPHOGENESIS | BP | TFAP2A |
GO_EMBRYONIC_CAMERA_TYPE_EYE_MORPHOGENESIS | BP | TFAP2A |
GO_EYELID_DEVELOPMENT_IN_CAMERA_TYPE_EYE | BP | TFAP2A |
GO_POSITIVE_REGULATION_OF_BIOMINERAL_TISSUE_DEVELOPMENT | BP | TFAP2A |
GO_APPENDAGE_DEVELOPMENT | BP | TFAP2A |
GO_NERVE_DEVELOPMENT | BP | TFAP2A |
GO_REGULATION_OF_ODONTOGENESIS | BP | TFAP2A |
GO_CRANIAL_SKELETAL_SYSTEM_DEVELOPMENT | BP | TFAP2A |
GO_RETINA_LAYER_FORMATION | BP | TFAP2A |
GO_CELLULAR_RESPONSE_TO_INORGANIC_SUBSTANCE | BP | TFAP2A |
GO_UROGENITAL_SYSTEM_DEVELOPMENT | BP | TFAP2A |
GO_SCHWANN_CELL_DEVELOPMENT | BP | TFAP2A |
GO_AUTONOMIC_NERVOUS_SYSTEM_DEVELOPMENT | BP | TFAP2A |
GO_EMBRYONIC_EYE_MORPHOGENESIS | BP | TFAP2A |
GO_BONE_MORPHOGENESIS | BP | TFAP2A |
GO_SCHWANN_CELL_DIFFERENTIATION | BP | TFAP2A |
GO_RESPONSE_TO_BIOTIC_STIMULUS | BP | TFAP2A |
GO_RESPONSE_TO_TRANSITION_METAL_NANOPARTICLE | BP | TFAP2A |
GO_PARASYMPATHETIC_NERVOUS_SYSTEM_DEVELOPMENT | BP | TFAP2A |
GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER | BP | TFAP2A |
GO_RESPONSE_TO_WATER | BP | TFAP2A |
GO_POSITIVE_REGULATION_OF_NEURON_APOPTOTIC_PROCESS | BP | TFAP2A |
GO_EMBRYONIC_CAMERA_TYPE_EYE_FORMATION | BP | TFAP2A |
GO_EMBRYONIC_CAMERA_TYPE_EYE_DEVELOPMENT | BP | TFAP2A |
GO_RESPONSE_TO_IRON_ION | BP | TFAP2A |
GO_RETINA_MORPHOGENESIS_IN_CAMERA_TYPE_EYE | BP | TFAP2A |
GO_RESPONSE_TO_WATER_DEPRIVATION | BP | TFAP2A |
GO_EMBRYONIC_CRANIAL_SKELETON_MORPHOGENESIS | BP | TFAP2A |
GO_INNER_EAR_MORPHOGENESIS | BP | TFAP2A |
GO_REGULATION_OF_OSSIFICATION | BP | TFAP2A |
GO_GOLGI_APPARATUS | CC | TFAP2A |
GO_TRANSCRIPTIONAL_REPRESSOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_REGULATORY_REGION_SEQUENCE_SPECIFIC_BINDING | MF | TFAP2A |
GO_RNA_POLYMERASE_II_CORE_PROMOTER_SEQUENCE_SPECIFIC_DNA_BINDING | MF | TFAP2A |
GO_TRANSCRIPTIONAL_REPRESSOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING | MF | TFAP2A |