Tissue | Expression Dynamics | Abbreviation |
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/BCLAF1_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/BCLAF1_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
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/BCLAF1_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/BCLAF1_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/BCLAF1_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/BCLAF1_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/BCLAF1_pca_on_diff_genes.png) | BPH: Benign Prostatic Hyperplasia |
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/BCLAF1_pca_on_diff_genes.png) | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
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/BCLAF1_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:0097193 | Colorectum | AD | intrinsic apoptotic signaling pathway | 108/3918 | 288/18723 | 6.25e-11 | 6.41e-09 | 108 |
GO:2001242 | Colorectum | AD | regulation of intrinsic apoptotic signaling pathway | 67/3918 | 164/18723 | 4.94e-09 | 3.16e-07 | 67 |
GO:2001233 | Colorectum | AD | regulation of apoptotic signaling pathway | 119/3918 | 356/18723 | 2.14e-08 | 1.21e-06 | 119 |
GO:2001020 | Colorectum | AD | regulation of response to DNA damage stimulus | 71/3918 | 219/18723 | 4.38e-05 | 7.65e-04 | 71 |
GO:0043620 | Colorectum | AD | regulation of DNA-templated transcription in response to stress | 23/3918 | 53/18723 | 1.86e-04 | 2.49e-03 | 23 |
GO:2001235 | Colorectum | AD | positive regulation of apoptotic signaling pathway | 42/3918 | 126/18723 | 7.85e-04 | 7.84e-03 | 42 |
GO:2001244 | Colorectum | AD | positive regulation of intrinsic apoptotic signaling pathway | 23/3918 | 58/18723 | 8.82e-04 | 8.53e-03 | 23 |
GO:2001022 | Colorectum | AD | positive regulation of response to DNA damage stimulus | 36/3918 | 105/18723 | 1.02e-03 | 9.47e-03 | 36 |
GO:20012421 | Colorectum | SER | regulation of intrinsic apoptotic signaling pathway | 59/2897 | 164/18723 | 8.42e-11 | 1.20e-08 | 59 |
GO:00971931 | Colorectum | SER | intrinsic apoptotic signaling pathway | 87/2897 | 288/18723 | 1.67e-10 | 2.32e-08 | 87 |
GO:20012331 | Colorectum | SER | regulation of apoptotic signaling pathway | 101/2897 | 356/18723 | 3.05e-10 | 4.07e-08 | 101 |
GO:20012351 | Colorectum | SER | positive regulation of apoptotic signaling pathway | 36/2897 | 126/18723 | 1.29e-04 | 2.63e-03 | 36 |
GO:20012441 | Colorectum | SER | positive regulation of intrinsic apoptotic signaling pathway | 20/2897 | 58/18723 | 2.76e-04 | 4.59e-03 | 20 |
GO:00436201 | Colorectum | SER | regulation of DNA-templated transcription in response to stress | 17/2897 | 53/18723 | 1.93e-03 | 1.94e-02 | 17 |
GO:20010201 | Colorectum | SER | regulation of response to DNA damage stimulus | 49/2897 | 219/18723 | 4.24e-03 | 3.45e-02 | 49 |
GO:00971932 | Colorectum | MSS | intrinsic apoptotic signaling pathway | 102/3467 | 288/18723 | 6.06e-12 | 9.82e-10 | 102 |
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:20012352 | Colorectum | MSS | positive regulation of apoptotic signaling pathway | 42/3467 | 126/18723 | 4.95e-05 | 8.97e-04 | 42 |
GO:20010202 | Colorectum | MSS | regulation of response to DNA damage stimulus | 64/3467 | 219/18723 | 7.20e-05 | 1.21e-03 | 64 |
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 |
BCLAF1 | SNV | Missense_Mutation | | c.1967N>T | p.Asp656Val | p.D656V | Q9NYF8 | protein_coding | deleterious(0) | possibly_damaging(0.591) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
BCLAF1 | SNV | Missense_Mutation | rs140335385 | c.893G>A | p.Arg298Gln | p.R298Q | Q9NYF8 | protein_coding | tolerated(0.11) | possibly_damaging(0.492) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
BCLAF1 | SNV | Missense_Mutation | novel | c.265C>T | p.His89Tyr | p.H89Y | Q9NYF8 | protein_coding | tolerated_low_confidence(0.28) | benign(0.003) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
BCLAF1 | SNV | Missense_Mutation | rs771321542 | c.704C>A | p.Pro235Gln | p.P235Q | Q9NYF8 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.994) | TCGA-D8-A27M-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | methotrexate+5 | SD |
BCLAF1 | SNV | Missense_Mutation | | c.511N>A | p.Gly171Arg | p.G171R | Q9NYF8 | protein_coding | deleterious_low_confidence(0) | benign(0.001) | TCGA-GM-A2DF-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxol | CR |
BCLAF1 | SNV | Missense_Mutation | novel | c.1464N>G | p.Ile488Met | p.I488M | Q9NYF8 | protein_coding | tolerated(0.22) | benign(0.169) | TCGA-OL-A66P-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | CR |
BCLAF1 | insertion | Frame_Shift_Ins | novel | c.172_173insTGTTGGAAATGGATCTAGTCGATACA | p.Arg58LeufsTer19 | p.R58Lfs*19 | Q9NYF8 | protein_coding | | | TCGA-A8-A08H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
BCLAF1 | insertion | Frame_Shift_Ins | novel | c.260_261insGCCAA | p.Tyr88ProfsTer94 | p.Y88Pfs*94 | Q9NYF8 | protein_coding | | | TCGA-AQ-A04H-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | taxotere | SD |
BCLAF1 | deletion | Frame_Shift_Del | novel | c.2056_2057delNN | p.Leu686LysfsTer3 | p.L686Kfs*3 | Q9NYF8 | protein_coding | | | TCGA-GM-A2DO-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | CR |
BCLAF1 | insertion | Frame_Shift_Ins | novel | c.2055_2056insCGGCC | p.Leu686ArgfsTer3 | p.L686Rfs*3 | Q9NYF8 | protein_coding | | | TCGA-GM-A2DO-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | CR |