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/RB1_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
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/RB1_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
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/RB1_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/RB1_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/RB1_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/RB1_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:000930631 | Stomach | CAG | protein secretion | 20/552 | 359/18723 | 5.11e-03 | 4.33e-02 | 20 |
GO:003559231 | Stomach | CAG | establishment of protein localization to extracellular region | 20/552 | 360/18723 | 5.26e-03 | 4.43e-02 | 20 |
GO:0002697 | Stomach | CAG | regulation of immune effector process | 19/552 | 339/18723 | 5.87e-03 | 4.75e-02 | 19 |
GO:0002437 | Stomach | CAG | inflammatory response to antigenic stimulus | 7/552 | 74/18723 | 6.10e-03 | 4.87e-02 | 7 |
GO:005070831 | Stomach | CAG | regulation of protein secretion | 16/552 | 268/18723 | 6.15e-03 | 4.88e-02 | 16 |
GO:00336746 | Stomach | CAG | positive regulation of kinase activity | 24/552 | 467/18723 | 6.24e-03 | 4.93e-02 | 24 |
GO:00480025 | Stomach | SIM | antigen processing and presentation of peptide antigen | 15/708 | 62/18723 | 7.10e-09 | 9.57e-07 | 15 |
GO:001905851 | Stomach | SIM | viral life cycle | 35/708 | 317/18723 | 1.45e-08 | 1.69e-06 | 35 |
GO:001603251 | Stomach | SIM | viral process | 41/708 | 415/18723 | 2.13e-08 | 2.33e-06 | 41 |
GO:00198825 | Stomach | SIM | antigen processing and presentation | 18/708 | 106/18723 | 8.62e-08 | 7.97e-06 | 18 |
GO:00024785 | Stomach | SIM | antigen processing and presentation of exogenous peptide antigen | 11/708 | 38/18723 | 9.90e-08 | 8.64e-06 | 11 |
GO:00198845 | Stomach | SIM | antigen processing and presentation of exogenous antigen | 12/708 | 47/18723 | 1.21e-07 | 9.98e-06 | 12 |
GO:004578551 | Stomach | SIM | positive regulation of cell adhesion | 40/708 | 437/18723 | 2.47e-07 | 1.74e-05 | 40 |
GO:00024954 | Stomach | SIM | antigen processing and presentation of peptide antigen via MHC class II | 10/708 | 34/18723 | 3.23e-07 | 2.21e-05 | 10 |
GO:00224075 | Stomach | SIM | regulation of cell-cell adhesion | 40/708 | 448/18723 | 4.73e-07 | 3.05e-05 | 40 |
GO:00025044 | Stomach | SIM | antigen processing and presentation of peptide or polysaccharide antigen via MHC class II | 10/708 | 36/18723 | 5.84e-07 | 3.58e-05 | 10 |
GO:004440351 | Stomach | SIM | biological process involved in symbiotic interaction | 30/708 | 290/18723 | 6.39e-07 | 3.87e-05 | 30 |
GO:00198865 | Stomach | SIM | antigen processing and presentation of exogenous peptide antigen via MHC class II | 9/708 | 30/18723 | 1.05e-06 | 5.84e-05 | 9 |
GO:00025014 | Stomach | SIM | peptide antigen assembly with MHC protein complex | 7/708 | 18/18723 | 2.37e-06 | 1.18e-04 | 7 |
GO:00508705 | Stomach | SIM | positive regulation of T cell activation | 24/708 | 216/18723 | 2.41e-06 | 1.18e-04 | 24 |
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 |
RB1 | SNV | Missense_Mutation | | c.1001N>A | p.Arg334Lys | p.R334K | P06400 | protein_coding | deleterious(0.01) | probably_damaging(0.945) | TCGA-A1-A0SI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RB1 | SNV | Missense_Mutation | | c.522G>T | p.Leu174Phe | p.L174F | P06400 | protein_coding | tolerated(0.66) | benign(0.163) | TCGA-BH-A0HI-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
RB1 | SNV | Missense_Mutation | | c.764N>A | p.Arg255Gln | p.R255Q | P06400 | protein_coding | tolerated(0.06) | probably_damaging(0.963) | TCGA-D8-A1XQ-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RB1 | SNV | Missense_Mutation | novel | c.1648N>A | p.Leu550Ile | p.L550I | P06400 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-E2-A159-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
RB1 | SNV | Missense_Mutation | novel | c.182N>A | p.Cys61Tyr | p.C61Y | P06400 | protein_coding | deleterious(0) | probably_damaging(0.956) | TCGA-E9-A3HO-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | CR |
RB1 | SNV | Missense_Mutation | novel | c.2081N>C | p.Leu694Pro | p.L694P | P06400 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-S3-AA0Z-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Ancillary | neulasta | CR |
RB1 | SNV | Missense_Mutation | novel | c.863N>A | p.Val288Glu | p.V288E | P06400 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-S3-AA10-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | CR |
RB1 | deletion | Frame_Shift_Del | novel | c.2595delN | p.Ser866AlafsTer7 | p.S866Afs*7 | P06400 | protein_coding | | | TCGA-A7-A3RF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | PD |
RB1 | insertion | Frame_Shift_Ins | novel | c.210_211insAG | p.Ala74GlufsTer4 | p.A74Efs*4 | P06400 | protein_coding | | | TCGA-BH-A0BW-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | adriamycin | CR |
RB1 | insertion | Frame_Shift_Ins | novel | c.2026_2027insTAGAACA | p.Ile679ArgfsTer15 | p.I679Rfs*15 | P06400 | protein_coding | | | TCGA-D8-A143-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
5925 | RB1 | CLINICALLY ACTIONABLE, DRUGGABLE GENOME, DRUG RESISTANCE, KINASE, TRANSCRIPTION FACTOR, TUMOR SUPPRESSOR, TRANSCRIPTION FACTOR COMPLEX | | Trilaciclib | TRILACICLIB | 26826116 |
5925 | RB1 | CLINICALLY ACTIONABLE, DRUGGABLE GENOME, DRUG RESISTANCE, KINASE, TRANSCRIPTION FACTOR, TUMOR SUPPRESSOR, TRANSCRIPTION FACTOR COMPLEX | | Entinostat | ENTINOSTAT | 18483379,23498719 |
5925 | RB1 | CLINICALLY ACTIONABLE, DRUGGABLE GENOME, DRUG RESISTANCE, KINASE, TRANSCRIPTION FACTOR, TUMOR SUPPRESSOR, TRANSCRIPTION FACTOR COMPLEX | | Vorinostat | VORINOSTAT | 18483379,23498719 |
5925 | RB1 | CLINICALLY ACTIONABLE, DRUGGABLE GENOME, DRUG RESISTANCE, KINASE, TRANSCRIPTION FACTOR, TUMOR SUPPRESSOR, TRANSCRIPTION FACTOR COMPLEX | | PF-06463922 | LORLATINIB | 28285684 |
5925 | RB1 | CLINICALLY ACTIONABLE, DRUGGABLE GENOME, DRUG RESISTANCE, KINASE, TRANSCRIPTION FACTOR, TUMOR SUPPRESSOR, TRANSCRIPTION FACTOR COMPLEX | | Asparaginase | ASPARAGINASE | 28151717 |
5925 | RB1 | CLINICALLY ACTIONABLE, DRUGGABLE GENOME, DRUG RESISTANCE, KINASE, TRANSCRIPTION FACTOR, TUMOR SUPPRESSOR, TRANSCRIPTION FACTOR COMPLEX | | BAY 61-3606 | | 22237022 |
5925 | RB1 | CLINICALLY ACTIONABLE, DRUGGABLE GENOME, DRUG RESISTANCE, KINASE, TRANSCRIPTION FACTOR, TUMOR SUPPRESSOR, TRANSCRIPTION FACTOR COMPLEX | | RIBOCICLIB | RIBOCICLIB | 29236940 |
5925 | RB1 | CLINICALLY ACTIONABLE, DRUGGABLE GENOME, DRUG RESISTANCE, KINASE, TRANSCRIPTION FACTOR, TUMOR SUPPRESSOR, TRANSCRIPTION FACTOR COMPLEX | | Bortezomib | BORTEZOMIB | 28151717 |
5925 | RB1 | CLINICALLY ACTIONABLE, DRUGGABLE GENOME, DRUG RESISTANCE, KINASE, TRANSCRIPTION FACTOR, TUMOR SUPPRESSOR, TRANSCRIPTION FACTOR COMPLEX | | R547 | | 17121911 |
5925 | RB1 | CLINICALLY ACTIONABLE, DRUGGABLE GENOME, DRUG RESISTANCE, KINASE, TRANSCRIPTION FACTOR, TUMOR SUPPRESSOR, TRANSCRIPTION FACTOR COMPLEX | | JQ1 | | 28151717 |