Tissue | Expression Dynamics | Abbreviation |
Endometrium | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Endometrium/TFAP2A_pca_on_diff_genes.png) | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
Esophagus | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Esophagus/TFAP2A_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Oral Cavity | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/OralCavity/TFAP2A_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Skin | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Skin/TFAP2A_pca_on_diff_genes.png) | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00015038 | Endometrium | AEH | ossification | 78/2100 | 408/18723 | 1.54e-06 | 4.85e-05 | 78 |
GO:00016556 | Endometrium | AEH | urogenital system development | 67/2100 | 338/18723 | 2.30e-06 | 6.76e-05 | 67 |
GO:00720015 | Endometrium | AEH | renal system development | 61/2100 | 302/18723 | 3.43e-06 | 9.24e-05 | 61 |
GO:190121616 | Endometrium | AEH | positive regulation of neuron death | 27/2100 | 97/18723 | 5.35e-06 | 1.36e-04 | 27 |
GO:00018224 | Endometrium | AEH | kidney development | 57/2100 | 293/18723 | 2.25e-05 | 4.35e-04 | 57 |
GO:001003816 | Endometrium | AEH | response to metal ion | 65/2100 | 373/18723 | 2.02e-04 | 2.54e-03 | 65 |
GO:004352510 | Endometrium | AEH | positive regulation of neuron apoptotic process | 16/2100 | 58/18723 | 4.75e-04 | 4.91e-03 | 16 |
GO:00351073 | Endometrium | AEH | appendage morphogenesis | 29/2100 | 138/18723 | 6.06e-04 | 5.94e-03 | 29 |
GO:00351083 | Endometrium | AEH | limb morphogenesis | 29/2100 | 138/18723 | 6.06e-04 | 5.94e-03 | 29 |
GO:00487366 | Endometrium | AEH | appendage development | 33/2100 | 172/18723 | 1.41e-03 | 1.18e-02 | 33 |
GO:00601736 | Endometrium | AEH | limb development | 33/2100 | 172/18723 | 1.41e-03 | 1.18e-02 | 33 |
GO:0010944 | Endometrium | AEH | negative regulation of transcription by competitive promoter binding | 5/2100 | 10/18723 | 2.74e-03 | 1.97e-02 | 5 |
GO:0030326 | Endometrium | AEH | embryonic limb morphogenesis | 23/2100 | 116/18723 | 4.58e-03 | 2.95e-02 | 23 |
GO:0035113 | Endometrium | AEH | embryonic appendage morphogenesis | 23/2100 | 116/18723 | 4.58e-03 | 2.95e-02 | 23 |
GO:0070167 | Endometrium | AEH | regulation of biomineral tissue development | 20/2100 | 97/18723 | 5.00e-03 | 3.14e-02 | 20 |
GO:0035115 | Endometrium | AEH | embryonic forelimb morphogenesis | 9/2100 | 31/18723 | 5.59e-03 | 3.44e-02 | 9 |
GO:190121416 | Endometrium | AEH | regulation of neuron death | 51/2100 | 319/18723 | 5.82e-03 | 3.55e-02 | 51 |
GO:00302822 | Endometrium | AEH | bone mineralization | 23/2100 | 119/18723 | 6.32e-03 | 3.75e-02 | 23 |
GO:0110149 | Endometrium | AEH | regulation of biomineralization | 20/2100 | 99/18723 | 6.34e-03 | 3.76e-02 | 20 |
GO:00163313 | Endometrium | AEH | morphogenesis of embryonic epithelium | 27/2100 | 147/18723 | 6.70e-03 | 3.94e-02 | 27 |
Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
TFAP2A | SNV | Missense_Mutation | | c.262N>G | p.Gln88Glu | p.Q88E | P05549 | protein_coding | tolerated(0.21) | possibly_damaging(0.759) | TCGA-A2-A1G0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | SD |
TFAP2A | SNV | Missense_Mutation | | c.476N>C | p.Val159Ala | p.V159A | P05549 | protein_coding | tolerated(0.1) | benign(0) | TCGA-A7-A13F-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
TFAP2A | SNV | Missense_Mutation | | c.625G>A | p.Glu209Lys | p.E209K | P05549 | protein_coding | deleterious(0.01) | benign(0.404) | TCGA-AO-A0J9-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | PD |
TFAP2A | SNV | Missense_Mutation | | c.1043N>G | p.Phe348Cys | p.F348C | P05549 | protein_coding | deleterious(0) | probably_damaging(0.946) | TCGA-AO-A0JM-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
TFAP2A | SNV | Missense_Mutation | | c.1033T>C | p.Cys345Arg | p.C345R | P05549 | protein_coding | deleterious(0) | probably_damaging(0.96) | TCGA-BH-A0BS-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | CR |
TFAP2A | SNV | Missense_Mutation | | c.572N>T | p.Ser191Phe | p.S191F | P05549 | protein_coding | deleterious(0.05) | benign(0.243) | TCGA-EW-A6SA-01 | Breast | breast invasive carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
TFAP2A | SNV | Missense_Mutation | | c.740N>T | p.Ser247Leu | p.S247L | P05549 | protein_coding | deleterious(0.01) | benign(0.202) | TCGA-C5-A1MN-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
TFAP2A | SNV | Missense_Mutation | rs151344526 | c.724G>A | p.Glu242Lys | p.E242K | P05549 | protein_coding | deleterious(0.01) | possibly_damaging(0.508) | TCGA-C5-A3HD-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
TFAP2A | SNV | Missense_Mutation | novel | c.161N>T | p.Gln54Leu | p.Q54L | P05549 | protein_coding | deleterious(0.03) | possibly_damaging(0.885) | TCGA-DS-A1OD-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
TFAP2A | SNV | Missense_Mutation | | c.878T>G | p.Val293Gly | p.V293G | P05549 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-EK-A2PM-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |