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:00072192 | Colorectum | CRC | Notch signaling pathway | 36/2078 | 172/18723 | 1.26e-04 | 2.42e-03 | 36 |
GO:00301004 | Colorectum | CRC | regulation of endocytosis | 39/2078 | 211/18723 | 9.51e-04 | 1.15e-02 | 39 |
GO:0008593 | Colorectum | CRC | regulation of Notch signaling pathway | 21/2078 | 95/18723 | 1.48e-03 | 1.58e-02 | 21 |
GO:00482593 | Colorectum | CRC | regulation of receptor-mediated endocytosis | 23/2078 | 110/18723 | 1.98e-03 | 1.98e-02 | 23 |
GO:00015034 | Colorectum | CRC | ossification | 64/2078 | 408/18723 | 2.73e-03 | 2.49e-02 | 64 |
GO:00068985 | Lung | IAC | receptor-mediated endocytosis | 50/2061 | 244/18723 | 1.01e-05 | 3.23e-04 | 50 |
GO:00725835 | Lung | IAC | clathrin-dependent endocytosis | 14/2061 | 47/18723 | 3.72e-04 | 5.75e-03 | 14 |
GO:00482595 | Lung | IAC | regulation of receptor-mediated endocytosis | 24/2061 | 110/18723 | 7.64e-04 | 9.90e-03 | 24 |
GO:00301006 | Lung | IAC | regulation of endocytosis | 38/2061 | 211/18723 | 1.54e-03 | 1.64e-02 | 38 |
GO:00085932 | Lung | IAC | regulation of Notch signaling pathway | 20/2061 | 95/18723 | 3.15e-03 | 2.75e-02 | 20 |
GO:000689812 | Lung | AIS | receptor-mediated endocytosis | 50/1849 | 244/18723 | 4.47e-07 | 3.52e-05 | 50 |
GO:003010012 | Lung | AIS | regulation of endocytosis | 40/1849 | 211/18723 | 4.10e-05 | 1.23e-03 | 40 |
GO:007258312 | Lung | AIS | clathrin-dependent endocytosis | 14/1849 | 47/18723 | 1.18e-04 | 2.72e-03 | 14 |
GO:004825912 | Lung | AIS | regulation of receptor-mediated endocytosis | 24/1849 | 110/18723 | 1.54e-04 | 3.26e-03 | 24 |
GO:00085931 | Lung | AIS | regulation of Notch signaling pathway | 20/1849 | 95/18723 | 8.52e-04 | 1.17e-02 | 20 |
GO:00072193 | Lung | AIS | Notch signaling pathway | 29/1849 | 172/18723 | 2.93e-03 | 2.92e-02 | 29 |
GO:003010016 | Oral cavity | OSCC | regulation of endocytosis | 121/7305 | 211/18723 | 4.74e-08 | 8.80e-07 | 121 |
GO:000150310 | Oral cavity | OSCC | ossification | 203/7305 | 408/18723 | 5.54e-06 | 6.19e-05 | 203 |
GO:000689810 | Oral cavity | OSCC | receptor-mediated endocytosis | 125/7305 | 244/18723 | 6.56e-05 | 5.32e-04 | 125 |
GO:00072196 | Oral cavity | OSCC | Notch signaling pathway | 92/7305 | 172/18723 | 7.84e-05 | 6.08e-04 | 92 |
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 |