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/TP53BP2_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/TP53BP2_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/TP53BP2_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
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/TP53BP2_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Prostate | ![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/Prostate/TP53BP2_pca_on_diff_genes.png) | BPH: Benign Prostatic Hyperplasia |
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/TP53BP2_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:0097193111 | Esophagus | ESCC | intrinsic apoptotic signaling pathway | 222/8552 | 288/18723 | 5.87e-28 | 2.02e-25 | 222 |
GO:0072331111 | Esophagus | ESCC | signal transduction by p53 class mediator | 121/8552 | 163/18723 | 9.61e-14 | 4.69e-12 | 121 |
GO:00457865 | Esophagus | ESCC | negative regulation of cell cycle | 236/8552 | 385/18723 | 3.62e-10 | 9.93e-09 | 236 |
GO:0072332111 | Esophagus | ESCC | intrinsic apoptotic signaling pathway by p53 class mediator | 59/8552 | 76/18723 | 1.22e-08 | 2.42e-07 | 59 |
GO:0070997111 | Esophagus | ESCC | neuron death | 216/8552 | 361/18723 | 3.49e-08 | 6.45e-07 | 216 |
GO:1901214111 | Esophagus | ESCC | regulation of neuron death | 186/8552 | 319/18723 | 3.35e-06 | 3.73e-05 | 186 |
GO:1901216111 | Esophagus | ESCC | positive regulation of neuron death | 65/8552 | 97/18723 | 1.76e-05 | 1.56e-04 | 65 |
GO:009719312 | Liver | Cirrhotic | intrinsic apoptotic signaling pathway | 130/4634 | 288/18723 | 2.69e-14 | 2.45e-12 | 130 |
GO:007099712 | Liver | Cirrhotic | neuron death | 141/4634 | 361/18723 | 9.56e-10 | 4.38e-08 | 141 |
GO:19012147 | Liver | Cirrhotic | regulation of neuron death | 122/4634 | 319/18723 | 5.17e-08 | 1.62e-06 | 122 |
GO:007233112 | Liver | Cirrhotic | signal transduction by p53 class mediator | 69/4634 | 163/18723 | 5.97e-07 | 1.30e-05 | 69 |
GO:00723326 | Liver | Cirrhotic | intrinsic apoptotic signaling pathway by p53 class mediator | 38/4634 | 76/18723 | 1.75e-06 | 3.32e-05 | 38 |
GO:19012167 | Liver | Cirrhotic | positive regulation of neuron death | 41/4634 | 97/18723 | 1.13e-04 | 1.14e-03 | 41 |
GO:009719322 | Liver | HCC | intrinsic apoptotic signaling pathway | 184/7958 | 288/18723 | 1.50e-13 | 8.32e-12 | 184 |
GO:007233122 | Liver | HCC | signal transduction by p53 class mediator | 108/7958 | 163/18723 | 7.14e-10 | 2.23e-08 | 108 |
GO:007099722 | Liver | HCC | neuron death | 202/7958 | 361/18723 | 1.44e-07 | 2.70e-06 | 202 |
GO:190121412 | Liver | HCC | regulation of neuron death | 179/7958 | 319/18723 | 5.65e-07 | 9.01e-06 | 179 |
GO:007233212 | Liver | HCC | intrinsic apoptotic signaling pathway by p53 class mediator | 51/7958 | 76/18723 | 1.27e-05 | 1.42e-04 | 51 |
GO:190121612 | Liver | HCC | positive regulation of neuron death | 62/7958 | 97/18723 | 1.67e-05 | 1.81e-04 | 62 |
GO:0045786 | Liver | HCC | negative regulation of cell cycle | 204/7958 | 385/18723 | 1.84e-05 | 1.99e-04 | 204 |
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 |
TP53BP2 | SNV | Missense_Mutation | rs189590424 | c.2138N>A | p.Ser713Tyr | p.S713Y | Q13625 | protein_coding | tolerated(0.13) | probably_damaging(0.996) | TCGA-A2-A04Y-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
TP53BP2 | SNV | Missense_Mutation | | c.747N>C | p.Glu249Asp | p.E249D | Q13625 | protein_coding | deleterious(0.05) | probably_damaging(0.978) | TCGA-A8-A07I-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | 5-fluorouracil | CR |
TP53BP2 | SNV | Missense_Mutation | | c.1153N>G | p.Gln385Glu | p.Q385E | Q13625 | protein_coding | tolerated(0.67) | probably_damaging(0.93) | TCGA-A8-A08R-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TP53BP2 | SNV | Missense_Mutation | | c.1391C>T | p.Ser464Leu | p.S464L | Q13625 | protein_coding | deleterious(0.01) | probably_damaging(0.991) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
TP53BP2 | SNV | Missense_Mutation | novel | c.221G>A | p.Arg74Gln | p.R74Q | Q13625 | protein_coding | tolerated(0.25) | benign(0.163) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TP53BP2 | SNV | Missense_Mutation | | c.3279C>G | p.Ile1093Met | p.I1093M | Q13625 | protein_coding | deleterious(0.03) | benign(0.229) | TCGA-AR-A24N-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TP53BP2 | SNV | Missense_Mutation | | c.808N>A | p.Asp270Asn | p.D270N | Q13625 | protein_coding | tolerated(0.16) | probably_damaging(0.996) | TCGA-D8-A1JA-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | PD |
TP53BP2 | SNV | Missense_Mutation | novel | c.1777N>T | p.Pro593Ser | p.P593S | Q13625 | protein_coding | deleterious(0.04) | probably_damaging(0.996) | TCGA-OL-A66I-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR |
TP53BP2 | insertion | Nonsense_Mutation | novel | c.858_859insTGGTGAGAAGCTGGGAGGATAAATAAACAAAAATGACTATAA | p.Gln286_Asn287insTrpTerGluAlaGlyArgIleAsnLysGlnLysTerLeuTer | p.Q286_N287insW*EAGRINKQK*L* | Q13625 | protein_coding | | | TCGA-A7-A0CG-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TP53BP2 | insertion | Nonsense_Mutation | novel | c.577_578insTCCATTTAATTTCCCCACCCAACTCCTGAACCTTCGAGTAATAACTTTTAT | p.Glu193delinsValHisLeuIleSerProProAsnSerTerThrPheGluTerTerLeuLeuTer | p.E193delinsVHLISPPNS*TFE**LL* | Q13625 | protein_coding | | | TCGA-A8-A07I-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | 5-fluorouracil | CR |