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:00068987 | Cervix | CC | receptor-mediated endocytosis | 53/2311 | 244/18723 | 2.52e-05 | 4.29e-04 | 53 |
GO:00301008 | Cervix | CC | regulation of endocytosis | 47/2311 | 211/18723 | 3.65e-05 | 5.82e-04 | 47 |
GO:00725836 | Cervix | CC | clathrin-dependent endocytosis | 16/2311 | 47/18723 | 9.56e-05 | 1.25e-03 | 16 |
GO:00072194 | Cervix | CC | Notch signaling pathway | 39/2311 | 172/18723 | 1.08e-04 | 1.38e-03 | 39 |
GO:00085933 | Cervix | CC | regulation of Notch signaling pathway | 25/2311 | 95/18723 | 1.61e-04 | 1.93e-03 | 25 |
GO:00015037 | Cervix | CC | ossification | 71/2311 | 408/18723 | 1.67e-03 | 1.28e-02 | 71 |
GO:00482597 | Cervix | CC | regulation of receptor-mediated endocytosis | 24/2311 | 110/18723 | 3.62e-03 | 2.31e-02 | 24 |
GO:0045747 | Cervix | CC | positive regulation of Notch signaling pathway | 13/2311 | 47/18723 | 3.62e-03 | 2.31e-02 | 13 |
GO:00302781 | Cervix | CC | regulation of ossification | 24/2311 | 115/18723 | 6.51e-03 | 3.61e-02 | 24 |
GO:0031214 | Cervix | CC | biomineral tissue development | 32/2311 | 169/18723 | 8.73e-03 | 4.48e-02 | 32 |
GO:0030282 | Cervix | CC | bone mineralization | 24/2311 | 119/18723 | 1.00e-02 | 4.89e-02 | 24 |
GO:0110148 | Cervix | CC | biomineralization | 32/2311 | 171/18723 | 1.04e-02 | 4.97e-02 | 32 |
GO:000689814 | Cervix | HSIL_HPV | receptor-mediated endocytosis | 20/737 | 244/18723 | 1.64e-03 | 1.78e-02 | 20 |
GO:000689824 | Cervix | N_HPV | receptor-mediated endocytosis | 17/534 | 244/18723 | 6.68e-04 | 8.57e-03 | 17 |
GO:000721911 | Cervix | N_HPV | Notch signaling pathway | 12/534 | 172/18723 | 3.92e-03 | 3.08e-02 | 12 |
GO:000150312 | Cervix | N_HPV | ossification | 21/534 | 408/18723 | 6.98e-03 | 4.61e-02 | 21 |
GO:003010013 | Cervix | N_HPV | regulation of endocytosis | 13/534 | 211/18723 | 7.72e-03 | 4.97e-02 | 13 |
GO:0072583 | Colorectum | AD | clathrin-dependent endocytosis | 24/3918 | 47/18723 | 4.60e-06 | 1.22e-04 | 24 |
GO:0006898 | Colorectum | AD | receptor-mediated endocytosis | 76/3918 | 244/18723 | 1.07e-04 | 1.59e-03 | 76 |
GO:0030100 | Colorectum | AD | regulation of endocytosis | 67/3918 | 211/18723 | 1.42e-04 | 2.01e-03 | 67 |
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 |