Tissue | Expression Dynamics | Abbreviation |
Breast | ![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/Breast/BBC3_pca_on_diff_genes.png) | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
Colorectum (GSE201348) | ![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/Colorectum/Becker/BBC3_pca_on_diff_genes.png) | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | ![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/Colorectum/Chen/BBC3_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal 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/BBC3_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/BBC3_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
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/BBC3_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/BBC3_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/BBC3_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:009719335 | Thyroid | ATC | intrinsic apoptotic signaling pathway | 171/6293 | 288/18723 | 1.86e-19 | 2.67e-17 | 171 |
GO:009031624 | Thyroid | ATC | positive regulation of intracellular protein transport | 107/6293 | 160/18723 | 6.82e-18 | 7.84e-16 | 107 |
GO:000683929 | Thyroid | ATC | mitochondrial transport | 151/6293 | 254/18723 | 2.07e-17 | 2.14e-15 | 151 |
GO:004586234 | Thyroid | ATC | positive regulation of proteolysis | 202/6293 | 372/18723 | 1.07e-16 | 9.42e-15 | 202 |
GO:190495128 | Thyroid | ATC | positive regulation of establishment of protein localization | 177/6293 | 319/18723 | 5.43e-16 | 4.29e-14 | 177 |
GO:009015031 | Thyroid | ATC | establishment of protein localization to membrane | 150/6293 | 260/18723 | 1.05e-15 | 7.96e-14 | 150 |
GO:200124233 | Thyroid | ATC | regulation of intrinsic apoptotic signaling pathway | 103/6293 | 164/18723 | 1.67e-14 | 9.77e-13 | 103 |
GO:005122234 | Thyroid | ATC | positive regulation of protein transport | 165/6293 | 303/18723 | 4.94e-14 | 2.69e-12 | 165 |
GO:007058533 | Thyroid | ATC | protein localization to mitochondrion | 83/6293 | 125/18723 | 6.24e-14 | 3.37e-12 | 83 |
GO:007265533 | Thyroid | ATC | establishment of protein localization to mitochondrion | 80/6293 | 120/18723 | 1.27e-13 | 6.46e-12 | 80 |
GO:1905475111 | Thyroid | ATC | regulation of protein localization to membrane | 96/6293 | 175/18723 | 5.55e-09 | 1.22e-07 | 96 |
GO:0010821112 | Thyroid | ATC | regulation of mitochondrion organization | 82/6293 | 144/18723 | 7.15e-09 | 1.54e-07 | 82 |
GO:0007006111 | Thyroid | ATC | mitochondrial membrane organization | 69/6293 | 116/18723 | 9.55e-09 | 2.00e-07 | 69 |
GO:200123528 | Thyroid | ATC | positive regulation of apoptotic signaling pathway | 73/6293 | 126/18723 | 1.74e-08 | 3.47e-07 | 73 |
GO:0070059113 | Thyroid | ATC | intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress | 43/6293 | 63/18723 | 1.98e-08 | 3.90e-07 | 43 |
GO:190374722 | Thyroid | ATC | regulation of establishment of protein localization to mitochondrion | 36/6293 | 50/18723 | 3.21e-08 | 6.00e-07 | 36 |
GO:190374916 | Thyroid | ATC | positive regulation of establishment of protein localization to mitochondrion | 26/6293 | 36/18723 | 2.47e-06 | 2.90e-05 | 26 |
GO:004328133 | Thyroid | ATC | regulation of cysteine-type endopeptidase activity involved in apoptotic process | 102/6293 | 209/18723 | 3.61e-06 | 4.03e-05 | 102 |
GO:0008637112 | Thyroid | ATC | apoptotic mitochondrial changes | 59/6293 | 107/18723 | 3.69e-06 | 4.10e-05 | 59 |
GO:1905477111 | Thyroid | ATC | positive regulation of protein localization to membrane | 58/6293 | 106/18723 | 6.14e-06 | 6.42e-05 | 58 |
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 |
BBC3 | deletion | Frame_Shift_Del | | c.667delN | p.Arg223GlufsTer6 | p.R223Efs*6 | Q96PG8 | protein_coding | | | TCGA-G4-6304-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Chemotherapy | fluorouracil | PD |
BBC3 | SNV | Missense_Mutation | rs769349350 | c.692G>A | p.Cys231Tyr | p.C231Y | Q96PG8 | protein_coding | tolerated_low_confidence(0.07) | benign(0.005) | TCGA-A5-A0G1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
BBC3 | SNV | Missense_Mutation | novel | c.649N>G | p.Gln217Glu | p.Q217E | Q96PG8 | protein_coding | deleterious_low_confidence(0.01) | benign(0.085) | TCGA-AJ-A3IA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
BBC3 | SNV | Missense_Mutation | novel | c.776N>A | p.Cys259Tyr | p.C259Y | Q96PG8 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.918) | TCGA-AJ-A3NE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
BBC3 | SNV | Missense_Mutation | | c.685N>T | p.Gly229Cys | p.G229C | Q96PG8 | protein_coding | deleterious_low_confidence(0) | benign(0.182) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
BBC3 | SNV | Missense_Mutation | novel | c.84N>G | p.Ile28Met | p.I28M | Q96PG8 | protein_coding | tolerated_low_confidence(0.1) | benign(0.009) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
BBC3 | deletion | Frame_Shift_Del | novel | c.725delN | p.Gly242AlafsTer48 | p.G242Afs*48 | Q96PG8 | protein_coding | | | TCGA-DI-A1BU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
BBC3 | SNV | Missense_Mutation | rs747649341 | c.694A>G | p.Thr232Ala | p.T232A | Q96PG8 | protein_coding | tolerated_low_confidence(0.05) | benign(0.062) | TCGA-69-7973-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
BBC3 | SNV | Missense_Mutation | rs755414185 | c.698G>A | p.Arg233His | p.R233H | Q96PG8 | protein_coding | deleterious_low_confidence(0.01) | benign(0.044) | TCGA-MP-A4SV-01 | Lung | lung adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
BBC3 | SNV | Missense_Mutation | | c.656N>T | p.Pro219Leu | p.P219L | Q96PG8 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.625) | TCGA-18-3408-01 | Lung | lung squamous cell carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |