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:20010561 | Colorectum | SER | positive regulation of cysteine-type endopeptidase activity | 36/2897 | 148/18723 | 3.21e-03 | 2.76e-02 | 36 |
GO:1902686 | Colorectum | SER | mitochondrial outer membrane permeabilization involved in programmed cell death | 13/2897 | 40/18723 | 5.60e-03 | 4.13e-02 | 13 |
GO:0006919 | Colorectum | SER | activation of cysteine-type endopeptidase activity involved in apoptotic process | 21/2897 | 78/18723 | 6.50e-03 | 4.66e-02 | 21 |
GO:19038292 | Colorectum | MSS | positive regulation of cellular protein localization | 103/3467 | 276/18723 | 1.12e-13 | 2.67e-11 | 103 |
GO:00725942 | Colorectum | MSS | establishment of protein localization to organelle | 139/3467 | 422/18723 | 5.75e-13 | 1.12e-10 | 139 |
GO:00971932 | Colorectum | MSS | intrinsic apoptotic signaling pathway | 102/3467 | 288/18723 | 6.06e-12 | 9.82e-10 | 102 |
GO:00068392 | Colorectum | MSS | mitochondrial transport | 93/3467 | 254/18723 | 6.14e-12 | 9.82e-10 | 93 |
GO:19049512 | Colorectum | MSS | positive regulation of establishment of protein localization | 110/3467 | 319/18723 | 6.30e-12 | 9.83e-10 | 110 |
GO:00512222 | Colorectum | MSS | positive regulation of protein transport | 104/3467 | 303/18723 | 3.23e-11 | 4.11e-09 | 104 |
GO:20012422 | Colorectum | MSS | regulation of intrinsic apoptotic signaling pathway | 66/3467 | 164/18723 | 6.70e-11 | 7.47e-09 | 66 |
GO:20012332 | Colorectum | MSS | regulation of apoptotic signaling pathway | 116/3467 | 356/18723 | 1.02e-10 | 1.06e-08 | 116 |
GO:00458622 | Colorectum | MSS | positive regulation of proteolysis | 119/3467 | 372/18723 | 2.14e-10 | 2.09e-08 | 119 |
GO:19054752 | Colorectum | MSS | regulation of protein localization to membrane | 68/3467 | 175/18723 | 2.16e-10 | 2.09e-08 | 68 |
GO:00901502 | Colorectum | MSS | establishment of protein localization to membrane | 90/3467 | 260/18723 | 4.11e-10 | 3.49e-08 | 90 |
GO:00903162 | Colorectum | MSS | positive regulation of intracellular protein transport | 60/3467 | 160/18723 | 1.18e-08 | 7.08e-07 | 60 |
GO:00323882 | Colorectum | MSS | positive regulation of intracellular transport | 70/3467 | 202/18723 | 3.32e-08 | 1.82e-06 | 70 |
GO:00331572 | Colorectum | MSS | regulation of intracellular protein transport | 76/3467 | 229/18723 | 7.03e-08 | 3.56e-06 | 76 |
GO:00323862 | Colorectum | MSS | regulation of intracellular transport | 102/3467 | 337/18723 | 9.73e-08 | 4.71e-06 | 102 |
GO:00108212 | Colorectum | MSS | regulation of mitochondrion organization | 53/3467 | 144/18723 | 1.67e-07 | 7.55e-06 | 53 |
GO:00525472 | Colorectum | MSS | regulation of peptidase activity | 130/3467 | 461/18723 | 1.81e-07 | 8.13e-06 | 130 |
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 |