Tissue | Expression Dynamics | Abbreviation |
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/RBBP8_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/RBBP8_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/RBBP8_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/RBBP8_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/RBBP8_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/RBBP8_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/RBBP8_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:00903054 | Skin | cSCC | nucleic acid phosphodiester bond hydrolysis | 97/4864 | 261/18723 | 4.08e-05 | 4.34e-04 | 97 |
GO:00063025 | Skin | cSCC | double-strand break repair | 89/4864 | 251/18723 | 5.23e-04 | 3.92e-03 | 89 |
GO:003235523 | Skin | cSCC | response to estradiol | 50/4864 | 141/18723 | 7.85e-03 | 3.65e-02 | 50 |
GO:0001701111 | Thyroid | PTC | in utero embryonic development | 175/5968 | 367/18723 | 1.40e-10 | 4.73e-09 | 175 |
GO:004477218 | Thyroid | PTC | mitotic cell cycle phase transition | 196/5968 | 424/18723 | 3.17e-10 | 1.02e-08 | 196 |
GO:00000829 | Thyroid | PTC | G1/S transition of mitotic cell cycle | 102/5968 | 214/18723 | 9.48e-07 | 1.43e-05 | 102 |
GO:00448439 | Thyroid | PTC | cell cycle G1/S phase transition | 112/5968 | 241/18723 | 1.37e-06 | 1.96e-05 | 112 |
GO:00063026 | Thyroid | PTC | double-strand break repair | 103/5968 | 251/18723 | 1.30e-03 | 7.40e-03 | 103 |
GO:00018246 | Thyroid | PTC | blastocyst development | 49/5968 | 106/18723 | 1.37e-03 | 7.72e-03 | 49 |
GO:003235518 | Thyroid | PTC | response to estradiol | 62/5968 | 141/18723 | 1.67e-03 | 9.16e-03 | 62 |
GO:00903055 | Thyroid | PTC | nucleic acid phosphodiester bond hydrolysis | 105/5968 | 261/18723 | 2.53e-03 | 1.31e-02 | 105 |
GO:004477219 | Thyroid | ATC | mitotic cell cycle phase transition | 223/6293 | 424/18723 | 3.46e-16 | 2.88e-14 | 223 |
GO:000170126 | Thyroid | ATC | in utero embryonic development | 183/6293 | 367/18723 | 6.62e-11 | 2.11e-09 | 183 |
GO:004484316 | Thyroid | ATC | cell cycle G1/S phase transition | 119/6293 | 241/18723 | 2.68e-07 | 4.10e-06 | 119 |
GO:000008216 | Thyroid | ATC | G1/S transition of mitotic cell cycle | 107/6293 | 214/18723 | 4.83e-07 | 6.99e-06 | 107 |
GO:003235519 | Thyroid | ATC | response to estradiol | 72/6293 | 141/18723 | 1.35e-05 | 1.29e-04 | 72 |
GO:000182414 | Thyroid | ATC | blastocyst development | 53/6293 | 106/18723 | 3.48e-04 | 2.16e-03 | 53 |
GO:000630212 | Thyroid | ATC | double-strand break repair | 110/6293 | 251/18723 | 4.48e-04 | 2.65e-03 | 110 |
GO:009030511 | Thyroid | ATC | nucleic acid phosphodiester bond hydrolysis | 107/6293 | 261/18723 | 7.21e-03 | 2.84e-02 | 107 |
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 |
RBBP8 | SNV | Missense_Mutation | | c.2429N>T | p.Gly810Val | p.G810V | Q99708 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A2-A25A-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Cytoxan | SD |
RBBP8 | SNV | Missense_Mutation | novel | c.2530N>A | p.Pro844Thr | p.P844T | Q99708 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AR-A0TY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | PD |
RBBP8 | SNV | Missense_Mutation | | c.2429N>T | p.Gly810Val | p.G810V | Q99708 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-D8-A1XL-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide+tamoxifen | SD |
RBBP8 | SNV | Missense_Mutation | rs201845876 | c.1351N>A | p.Glu451Lys | p.E451K | Q99708 | protein_coding | deleterious(0.01) | possibly_damaging(0.647) | TCGA-EW-A1J5-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
RBBP8 | SNV | Missense_Mutation | rs768802597 | c.2254N>C | p.Glu752Gln | p.E752Q | Q99708 | protein_coding | deleterious(0.02) | benign(0.116) | TCGA-EW-A1PB-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
RBBP8 | insertion | Nonsense_Mutation | novel | c.2531_2532insTGATTACTGTTAGTAATTAATACTGTCTGTAAGA | p.Pro845AspfsTer4 | p.P845Dfs*4 | Q99708 | protein_coding | | | TCGA-AR-A0TY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | PD |
RBBP8 | insertion | Nonsense_Mutation | novel | c.1820_1821insTAAAATCTAGACAGAAGCA | p.Ser608LysfsTer3 | p.S608Kfs*3 | Q99708 | protein_coding | | | TCGA-C8-A134-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
RBBP8 | deletion | Frame_Shift_Del | | c.1544_1571delNNNNNNNNNNNNNNNNNNNNNNNNNNNN | p.Lys515IlefsTer2 | p.K515Ifs*2 | Q99708 | protein_coding | | | TCGA-D8-A146-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RBBP8 | SNV | Missense_Mutation | novel | c.2561N>C | p.Val854Ala | p.V854A | Q99708 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-C5-A8XI-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | SD |
RBBP8 | SNV | Missense_Mutation | | c.1951N>C | p.Glu651Gln | p.E651Q | Q99708 | protein_coding | deleterious(0.01) | possibly_damaging(0.621) | TCGA-EA-A5ZF-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |