Tissue | Expression Dynamics | Abbreviation |
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/TP53BP1_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Liver | ![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/Liver/TP53BP1_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Lung | ![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/Lung/TP53BP1_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
Thyroid | ![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/Thyroid/TP53BP1_pca_on_diff_genes.png) | ATC: Anaplastic thyroid cancer |
HT: Hashimoto's thyroiditis |
PTC: Papillary thyroid cancer |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00164453 | Thyroid | PTC | somatic diversification of immunoglobulins | 31/5968 | 67/18723 | 9.51e-03 | 3.91e-02 | 31 |
GO:00164473 | Thyroid | PTC | somatic recombination of immunoglobulin gene segments | 27/5968 | 57/18723 | 1.04e-02 | 4.18e-02 | 27 |
GO:000238113 | Thyroid | PTC | immunoglobulin production involved in immunoglobulin-mediated immune response | 32/5968 | 70/18723 | 1.05e-02 | 4.23e-02 | 32 |
GO:007148114 | Thyroid | PTC | cellular response to X-ray | 9/5968 | 14/18723 | 1.27e-02 | 4.92e-02 | 9 |
GO:005105219 | Thyroid | ATC | regulation of DNA metabolic process | 183/6293 | 359/18723 | 5.97e-12 | 2.30e-10 | 183 |
GO:200102026 | Thyroid | ATC | regulation of response to DNA damage stimulus | 121/6293 | 219/18723 | 3.22e-11 | 1.08e-09 | 121 |
GO:007121427 | Thyroid | ATC | cellular response to abiotic stimulus | 169/6293 | 331/18723 | 3.24e-11 | 1.08e-09 | 169 |
GO:010400427 | Thyroid | ATC | cellular response to environmental stimulus | 169/6293 | 331/18723 | 3.24e-11 | 1.08e-09 | 169 |
GO:190198715 | Thyroid | ATC | regulation of cell cycle phase transition | 187/6293 | 390/18723 | 2.36e-09 | 5.61e-08 | 187 |
GO:007147825 | Thyroid | ATC | cellular response to radiation | 101/6293 | 186/18723 | 4.67e-09 | 1.04e-07 | 101 |
GO:0051054110 | Thyroid | ATC | positive regulation of DNA metabolic process | 107/6293 | 201/18723 | 7.10e-09 | 1.54e-07 | 107 |
GO:000931426 | Thyroid | ATC | response to radiation | 210/6293 | 456/18723 | 1.69e-08 | 3.39e-07 | 210 |
GO:004578614 | Thyroid | ATC | negative regulation of cell cycle | 181/6293 | 385/18723 | 2.64e-08 | 5.07e-07 | 181 |
GO:0010212110 | Thyroid | ATC | response to ionizing radiation | 82/6293 | 148/18723 | 3.88e-08 | 7.15e-07 | 82 |
GO:007147927 | Thyroid | ATC | cellular response to ionizing radiation | 46/6293 | 72/18723 | 1.41e-07 | 2.30e-06 | 46 |
GO:004277016 | Thyroid | ATC | signal transduction in response to DNA damage | 90/6293 | 172/18723 | 3.01e-07 | 4.52e-06 | 90 |
GO:000628211 | Thyroid | ATC | regulation of DNA repair | 68/6293 | 130/18723 | 8.19e-06 | 8.27e-05 | 68 |
GO:000007513 | Thyroid | ATC | cell cycle checkpoint | 84/6293 | 169/18723 | 1.05e-05 | 1.04e-04 | 84 |
GO:001094813 | Thyroid | ATC | negative regulation of cell cycle process | 134/6293 | 294/18723 | 1.19e-05 | 1.15e-04 | 134 |
GO:190198813 | Thyroid | ATC | negative regulation of cell cycle phase transition | 116/6293 | 249/18723 | 1.33e-05 | 1.27e-04 | 116 |
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 |
TP53BP1 | SNV | Missense_Mutation | rs368299457 | c.2522N>A | p.Pro841His | p.P841H | Q12888 | protein_coding | deleterious_low_confidence(0.04) | possibly_damaging(0.808) | TCGA-A2-A3XT-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | PR |
TP53BP1 | SNV | Missense_Mutation | novel | c.631N>T | p.Arg211Trp | p.R211W | Q12888 | protein_coding | deleterious(0.01) | possibly_damaging(0.634) | TCGA-A2-A4S1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TP53BP1 | SNV | Missense_Mutation | | c.3498G>C | p.Leu1166Phe | p.L1166F | Q12888 | protein_coding | tolerated(0.18) | possibly_damaging(0.624) | TCGA-A8-A095-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
TP53BP1 | SNV | Missense_Mutation | rs45443496 | c.1957A>G | p.Met653Val | p.M653V | Q12888 | protein_coding | tolerated(0.13) | benign(0.003) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TP53BP1 | SNV | Missense_Mutation | | c.5009C>T | p.Ser1670Leu | p.S1670L | Q12888 | protein_coding | deleterious(0) | benign(0.053) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
TP53BP1 | SNV | Missense_Mutation | | c.4732G>C | p.Glu1578Gln | p.E1578Q | Q12888 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
TP53BP1 | SNV | Missense_Mutation | | c.2200C>G | p.Gln734Glu | p.Q734E | Q12888 | protein_coding | tolerated_low_confidence(0.18) | benign(0.047) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
TP53BP1 | SNV | Missense_Mutation | | c.5363N>C | p.Gly1788Ala | p.G1788A | Q12888 | protein_coding | deleterious(0) | probably_damaging(0.979) | TCGA-AC-A2B8-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | chemo | PD |
TP53BP1 | SNV | Missense_Mutation | | c.5018G>T | p.Arg1673Ile | p.R1673I | Q12888 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TP53BP1 | SNV | Missense_Mutation | | c.4865N>G | p.Ile1622Ser | p.I1622S | Q12888 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AO-A03O-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | doxorubicin | SD |