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:000150323 | Skin | cSCC | ossification | 137/4864 | 408/18723 | 3.39e-04 | 2.68e-03 | 137 |
GO:003134622 | Skin | cSCC | positive regulation of cell projection organization | 120/4864 | 353/18723 | 4.49e-04 | 3.44e-03 | 120 |
GO:005067324 | Skin | cSCC | epithelial cell proliferation | 144/4864 | 437/18723 | 6.07e-04 | 4.38e-03 | 144 |
GO:005076913 | Skin | cSCC | positive regulation of neurogenesis | 80/4864 | 225/18723 | 8.85e-04 | 6.07e-03 | 80 |
GO:003030722 | Skin | cSCC | positive regulation of cell growth | 61/4864 | 166/18723 | 1.39e-03 | 8.78e-03 | 61 |
GO:003367425 | Skin | cSCC | positive regulation of kinase activity | 148/4864 | 467/18723 | 3.00e-03 | 1.66e-02 | 148 |
GO:005076722 | Skin | cSCC | regulation of neurogenesis | 118/4864 | 364/18723 | 3.32e-03 | 1.81e-02 | 118 |
GO:001097522 | Skin | cSCC | regulation of neuron projection development | 141/4864 | 445/18723 | 3.72e-03 | 1.99e-02 | 141 |
GO:001063125 | Skin | cSCC | epithelial cell migration | 115/4864 | 357/18723 | 4.64e-03 | 2.37e-02 | 115 |
GO:004586025 | Skin | cSCC | positive regulation of protein kinase activity | 123/4864 | 386/18723 | 5.23e-03 | 2.64e-02 | 123 |
GO:006156422 | Skin | cSCC | axon development | 146/4864 | 467/18723 | 5.50e-03 | 2.73e-02 | 146 |
GO:000315824 | Skin | cSCC | endothelium development | 49/4864 | 136/18723 | 6.00e-03 | 2.95e-02 | 49 |
GO:009013225 | Skin | cSCC | epithelium migration | 115/4864 | 360/18723 | 6.20e-03 | 3.04e-02 | 115 |
GO:00507729 | Skin | cSCC | positive regulation of axonogenesis | 31/4864 | 79/18723 | 6.63e-03 | 3.23e-02 | 31 |
GO:006056023 | Skin | cSCC | developmental growth involved in morphogenesis | 78/4864 | 234/18723 | 7.08e-03 | 3.40e-02 | 78 |
GO:004592719 | Skin | cSCC | positive regulation of growth | 85/4864 | 259/18723 | 8.03e-03 | 3.73e-02 | 85 |
GO:199013823 | Skin | cSCC | neuron projection extension | 59/4864 | 172/18723 | 9.20e-03 | 4.20e-02 | 59 |
GO:2000279 | Skin | cSCC | negative regulation of DNA biosynthetic process | 17/4864 | 38/18723 | 9.41e-03 | 4.25e-02 | 17 |
GO:009013025 | Skin | cSCC | tissue migration | 115/4864 | 365/18723 | 9.81e-03 | 4.33e-02 | 115 |
GO:000166727 | Skin | cSCC | ameboidal-type cell migration | 146/4864 | 475/18723 | 1.05e-02 | 4.58e-02 | 146 |
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 |