Tissue | Expression Dynamics | Abbreviation |
Cervix | ![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/Cervix/BMPR2_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
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/BMPR2_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/BMPR2_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/BMPR2_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/BMPR2_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/BMPR2_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/BMPR2_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/BMPR2_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/BMPR2_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/BMPR2_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/BMPR2_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:00614583 | Colorectum | FAP | reproductive system development | 85/2622 | 427/18723 | 4.30e-04 | 5.13e-03 | 85 |
GO:00016493 | Colorectum | FAP | osteoblast differentiation | 51/2622 | 229/18723 | 4.40e-04 | 5.22e-03 | 51 |
GO:00486083 | Colorectum | FAP | reproductive structure development | 84/2622 | 424/18723 | 5.40e-04 | 6.10e-03 | 84 |
GO:00603902 | Colorectum | FAP | regulation of SMAD protein signal transduction | 12/2622 | 31/18723 | 5.86e-04 | 6.51e-03 | 12 |
GO:00487363 | Colorectum | FAP | appendage development | 40/2622 | 172/18723 | 7.15e-04 | 7.66e-03 | 40 |
GO:00601733 | Colorectum | FAP | limb development | 40/2622 | 172/18723 | 7.15e-04 | 7.66e-03 | 40 |
GO:00458604 | Colorectum | FAP | positive regulation of protein kinase activity | 77/2622 | 386/18723 | 7.31e-04 | 7.81e-03 | 77 |
GO:00719022 | Colorectum | FAP | positive regulation of protein serine/threonine kinase activity | 45/2622 | 200/18723 | 7.36e-04 | 7.83e-03 | 45 |
GO:0003018 | Colorectum | FAP | vascular process in circulatory system | 56/2622 | 263/18723 | 7.67e-04 | 8.12e-03 | 56 |
GO:00073692 | Colorectum | FAP | gastrulation | 42/2622 | 185/18723 | 8.97e-04 | 9.10e-03 | 42 |
GO:00336744 | Colorectum | FAP | positive regulation of kinase activity | 89/2622 | 467/18723 | 1.33e-03 | 1.22e-02 | 89 |
GO:00506732 | Colorectum | FAP | epithelial cell proliferation | 84/2622 | 437/18723 | 1.39e-03 | 1.25e-02 | 84 |
GO:00015033 | Colorectum | FAP | ossification | 79/2622 | 408/18723 | 1.53e-03 | 1.37e-02 | 79 |
GO:0051962 | Colorectum | FAP | positive regulation of nervous system development | 56/2622 | 272/18723 | 1.74e-03 | 1.52e-02 | 56 |
GO:00031583 | Colorectum | FAP | endothelium development | 32/2622 | 136/18723 | 1.89e-03 | 1.61e-02 | 32 |
GO:0060485 | Colorectum | FAP | mesenchyme development | 59/2622 | 291/18723 | 1.94e-03 | 1.64e-02 | 59 |
GO:0071772 | Colorectum | FAP | response to BMP | 37/2622 | 165/18723 | 2.20e-03 | 1.80e-02 | 37 |
GO:0071773 | Colorectum | FAP | cellular response to BMP stimulus | 37/2622 | 165/18723 | 2.20e-03 | 1.80e-02 | 37 |
GO:0009101 | Colorectum | FAP | glycoprotein biosynthetic process | 63/2622 | 317/18723 | 2.31e-03 | 1.86e-02 | 63 |
GO:0060389 | Colorectum | FAP | pathway-restricted SMAD protein phosphorylation | 18/2622 | 65/18723 | 2.85e-03 | 2.19e-02 | 18 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0541820 | Cervix | CC | Fluid shear stress and atherosclerosis | 50/1267 | 139/8465 | 5.71e-10 | 1.32e-08 | 7.81e-09 | 50 |
hsa043609 | Cervix | CC | Axon guidance | 47/1267 | 182/8465 | 8.13e-05 | 5.38e-04 | 3.18e-04 | 47 |
hsa043908 | Cervix | CC | Hippo signaling pathway | 40/1267 | 157/8465 | 3.64e-04 | 1.82e-03 | 1.07e-03 | 40 |
hsa05418110 | Cervix | CC | Fluid shear stress and atherosclerosis | 50/1267 | 139/8465 | 5.71e-10 | 1.32e-08 | 7.81e-09 | 50 |
hsa0436012 | Cervix | CC | Axon guidance | 47/1267 | 182/8465 | 8.13e-05 | 5.38e-04 | 3.18e-04 | 47 |
hsa0439013 | Cervix | CC | Hippo signaling pathway | 40/1267 | 157/8465 | 3.64e-04 | 1.82e-03 | 1.07e-03 | 40 |
hsa05418 | Colorectum | AD | Fluid shear stress and atherosclerosis | 54/2092 | 139/8465 | 1.41e-04 | 1.16e-03 | 7.37e-04 | 54 |
hsa04360 | Colorectum | AD | Axon guidance | 61/2092 | 182/8465 | 4.36e-03 | 2.17e-02 | 1.38e-02 | 61 |
hsa054181 | Colorectum | AD | Fluid shear stress and atherosclerosis | 54/2092 | 139/8465 | 1.41e-04 | 1.16e-03 | 7.37e-04 | 54 |
hsa043601 | Colorectum | AD | Axon guidance | 61/2092 | 182/8465 | 4.36e-03 | 2.17e-02 | 1.38e-02 | 61 |
hsa054182 | Colorectum | SER | Fluid shear stress and atherosclerosis | 40/1580 | 139/8465 | 2.28e-03 | 1.75e-02 | 1.27e-02 | 40 |
hsa04350 | Colorectum | SER | TGF-beta signaling pathway | 31/1580 | 108/8465 | 7.00e-03 | 3.77e-02 | 2.74e-02 | 31 |
hsa054183 | Colorectum | SER | Fluid shear stress and atherosclerosis | 40/1580 | 139/8465 | 2.28e-03 | 1.75e-02 | 1.27e-02 | 40 |
hsa043501 | Colorectum | SER | TGF-beta signaling pathway | 31/1580 | 108/8465 | 7.00e-03 | 3.77e-02 | 2.74e-02 | 31 |
hsa054184 | Colorectum | MSS | Fluid shear stress and atherosclerosis | 51/1875 | 139/8465 | 6.06e-05 | 5.80e-04 | 3.55e-04 | 51 |
hsa04390 | Colorectum | MSS | Hippo signaling pathway | 48/1875 | 157/8465 | 8.32e-03 | 3.10e-02 | 1.90e-02 | 48 |
hsa043602 | Colorectum | MSS | Axon guidance | 54/1875 | 182/8465 | 1.03e-02 | 3.69e-02 | 2.26e-02 | 54 |
hsa054185 | Colorectum | MSS | Fluid shear stress and atherosclerosis | 51/1875 | 139/8465 | 6.06e-05 | 5.80e-04 | 3.55e-04 | 51 |
hsa043901 | Colorectum | MSS | Hippo signaling pathway | 48/1875 | 157/8465 | 8.32e-03 | 3.10e-02 | 1.90e-02 | 48 |
hsa043603 | Colorectum | MSS | Axon guidance | 54/1875 | 182/8465 | 1.03e-02 | 3.69e-02 | 2.26e-02 | 54 |
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 |
BMPR2 | SNV | Missense_Mutation | rs777889469 | c.440N>A | p.Arg147Gln | p.R147Q | Q13873 | protein_coding | tolerated(0.25) | benign(0.007) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
BMPR2 | SNV | Missense_Mutation | novel | c.704C>T | p.Ala235Val | p.A235V | Q13873 | protein_coding | deleterious(0.04) | benign(0.073) | TCGA-B6-A0RE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
BMPR2 | SNV | Missense_Mutation | novel | c.2798N>A | p.Arg933Lys | p.R933K | Q13873 | protein_coding | tolerated(0.13) | benign(0.005) | TCGA-BH-A0B6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
BMPR2 | SNV | Missense_Mutation | | c.1957C>G | p.Pro653Ala | p.P653A | Q13873 | protein_coding | deleterious(0.01) | possibly_damaging(0.696) | TCGA-EW-A1PB-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
BMPR2 | SNV | Missense_Mutation | | c.1010N>A | p.Arg337Lys | p.R337K | Q13873 | protein_coding | deleterious(0.01) | benign(0.25) | TCGA-LQ-A4E4-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | anastrozole | PD |
BMPR2 | SNV | Missense_Mutation | novel | c.2093C>A | p.Pro698Gln | p.P698Q | Q13873 | protein_coding | tolerated(0.06) | possibly_damaging(0.809) | TCGA-OL-A6VO-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
BMPR2 | deletion | Frame_Shift_Del | rs772920507 | c.1742delN | p.Asn583ThrfsTer44 | p.N583Tfs*44 | Q13873 | protein_coding | | | TCGA-D8-A1XQ-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
BMPR2 | SNV | Missense_Mutation | rs200960921 | c.776G>A | p.Arg259His | p.R259H | Q13873 | protein_coding | tolerated(0.09) | benign(0.007) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
BMPR2 | SNV | Missense_Mutation | rs201781338 | c.2618N>A | p.Arg873Gln | p.R873Q | Q13873 | protein_coding | deleterious(0.05) | benign(0.205) | TCGA-C5-A1BK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
BMPR2 | SNV | Missense_Mutation | rs370120266 | c.71C>A | p.Ala24Glu | p.A24E | Q13873 | protein_coding | tolerated(0.09) | benign(0.02) | TCGA-EK-A3GK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |