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/BMP2K_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/BMP2K_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/BMP2K_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
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/BMP2K_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/BMP2K_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
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/BMP2K_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:0048259 | Colorectum | AD | regulation of receptor-mediated endocytosis | 35/3918 | 110/18723 | 4.85e-03 | 3.27e-02 | 35 |
GO:0007219 | Colorectum | AD | Notch signaling pathway | 50/3918 | 172/18723 | 6.92e-03 | 4.26e-02 | 50 |
GO:0001503 | Colorectum | AD | ossification | 106/3918 | 408/18723 | 7.68e-03 | 4.64e-02 | 106 |
GO:00301001 | Colorectum | SER | regulation of endocytosis | 48/2897 | 211/18723 | 3.29e-03 | 2.82e-02 | 48 |
GO:00015031 | Colorectum | SER | ossification | 82/2897 | 408/18723 | 6.76e-03 | 4.78e-02 | 82 |
GO:00725831 | Colorectum | MSS | clathrin-dependent endocytosis | 22/3467 | 47/18723 | 8.74e-06 | 2.16e-04 | 22 |
GO:00301002 | Colorectum | MSS | regulation of endocytosis | 63/3467 | 211/18723 | 4.05e-05 | 7.66e-04 | 63 |
GO:00068981 | Colorectum | MSS | receptor-mediated endocytosis | 69/3467 | 244/18723 | 1.18e-04 | 1.82e-03 | 69 |
GO:00482591 | Colorectum | MSS | regulation of receptor-mediated endocytosis | 33/3467 | 110/18723 | 2.33e-03 | 1.90e-02 | 33 |
GO:00015032 | Colorectum | MSS | ossification | 96/3467 | 408/18723 | 6.09e-03 | 4.07e-02 | 96 |
GO:00725832 | Colorectum | FAP | clathrin-dependent endocytosis | 21/2622 | 47/18723 | 3.45e-07 | 1.87e-05 | 21 |
GO:00068982 | Colorectum | FAP | receptor-mediated endocytosis | 62/2622 | 244/18723 | 1.47e-06 | 6.39e-05 | 62 |
GO:00301003 | Colorectum | FAP | regulation of endocytosis | 52/2622 | 211/18723 | 2.47e-05 | 5.77e-04 | 52 |
GO:00482592 | Colorectum | FAP | regulation of receptor-mediated endocytosis | 30/2622 | 110/18723 | 1.89e-04 | 2.76e-03 | 30 |
GO:00015033 | Colorectum | FAP | ossification | 79/2622 | 408/18723 | 1.53e-03 | 1.37e-02 | 79 |
GO:00072191 | Colorectum | FAP | Notch signaling pathway | 38/2622 | 172/18723 | 2.56e-03 | 2.01e-02 | 38 |
GO:2000369 | Colorectum | FAP | regulation of clathrin-dependent endocytosis | 8/2622 | 19/18723 | 2.61e-03 | 2.03e-02 | 8 |
GO:0030278 | Colorectum | FAP | regulation of ossification | 27/2622 | 115/18723 | 4.23e-03 | 2.90e-02 | 27 |
GO:00725833 | Colorectum | CRC | clathrin-dependent endocytosis | 18/2078 | 47/18723 | 1.16e-06 | 6.75e-05 | 18 |
GO:00068983 | Colorectum | CRC | receptor-mediated endocytosis | 50/2078 | 244/18723 | 1.27e-05 | 4.08e-04 | 50 |
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 |
BMP2K | SNV | Missense_Mutation | novel | c.683N>T | p.Ser228Leu | p.S228L | Q9NSY1 | protein_coding | deleterious(0) | probably_damaging(0.952) | TCGA-3C-AALJ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
BMP2K | SNV | Missense_Mutation | novel | c.1462N>T | p.His488Tyr | p.H488Y | Q9NSY1 | protein_coding | tolerated_low_confidence(1) | benign(0.152) | TCGA-A7-A0DB-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD |
BMP2K | SNV | Missense_Mutation | | c.995N>G | p.Ser332Cys | p.S332C | Q9NSY1 | protein_coding | deleterious(0.01) | benign(0.046) | TCGA-A8-A0A7-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
BMP2K | SNV | Missense_Mutation | novel | c.3284N>C | p.His1095Pro | p.H1095P | Q9NSY1 | protein_coding | deleterious_low_confidence(0.03) | benign(0.003) | TCGA-AO-A0JB-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD |
BMP2K | SNV | Missense_Mutation | | c.923N>C | p.Ile308Thr | p.I308T | Q9NSY1 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-BH-A0HN-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
BMP2K | SNV | Missense_Mutation | | c.2127N>G | p.Ile709Met | p.I709M | Q9NSY1 | protein_coding | tolerated_low_confidence(0.12) | benign(0) | TCGA-BH-A0HP-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | doxorubicin | SD |
BMP2K | insertion | In_Frame_Ins | novel | c.3285_3286insCTTCTCCTAAGAGCAGTGAAGAGGAAGAGCAAGATGATG | p.His1095_Asn1096insLeuLeuLeuArgAlaValLysArgLysSerLysMetMet | p.H1095_N1096insLLLRAVKRKSKMM | Q9NSY1 | protein_coding | | | TCGA-AO-A0JB-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD |
BMP2K | SNV | Missense_Mutation | rs769519712 | c.2600G>A | p.Arg867His | p.R867H | Q9NSY1 | protein_coding | tolerated_low_confidence(0.47) | benign(0) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
BMP2K | SNV | Missense_Mutation | | c.614A>C | p.Lys205Thr | p.K205T | Q9NSY1 | protein_coding | deleterious(0.01) | probably_damaging(0.965) | TCGA-A6-6141-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | 5-fu | SD |
BMP2K | SNV | Missense_Mutation | rs560165697 | c.2326G>A | p.Asp776Asn | p.D776N | Q9NSY1 | protein_coding | deleterious_low_confidence(0.03) | possibly_damaging(0.879) | TCGA-AA-3710-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |