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:00025031 | Stomach | CAG with IM | peptide antigen assembly with MHC class II protein complex | 9/1050 | 16/18723 | 4.24e-08 | 3.28e-06 | 9 |
GO:000248311 | Stomach | CAG with IM | antigen processing and presentation of endogenous peptide antigen | 9/1050 | 19/18723 | 2.94e-07 | 1.78e-05 | 9 |
GO:003428411 | Stomach | CAG with IM | response to monosaccharide | 33/1050 | 225/18723 | 3.92e-07 | 2.30e-05 | 33 |
GO:000974611 | Stomach | CAG with IM | response to hexose | 32/1050 | 219/18723 | 6.38e-07 | 3.36e-05 | 32 |
GO:001988311 | Stomach | CAG with IM | antigen processing and presentation of endogenous antigen | 10/1050 | 26/18723 | 6.86e-07 | 3.55e-05 | 10 |
GO:000974311 | Stomach | CAG with IM | response to carbohydrate | 35/1050 | 253/18723 | 7.29e-07 | 3.70e-05 | 35 |
GO:000974911 | Stomach | CAG with IM | response to glucose | 30/1050 | 212/18723 | 2.78e-06 | 1.16e-04 | 30 |
GO:004578511 | Stomach | CAG with IM | positive regulation of cell adhesion | 49/1050 | 437/18723 | 3.01e-06 | 1.23e-04 | 49 |
GO:00069591 | Stomach | CAG with IM | humoral immune response | 39/1050 | 317/18723 | 3.43e-06 | 1.36e-04 | 39 |
GO:00224071 | Stomach | CAG with IM | regulation of cell-cell adhesion | 49/1050 | 448/18723 | 6.02e-06 | 2.23e-04 | 49 |
GO:004440311 | Stomach | CAG with IM | biological process involved in symbiotic interaction | 36/1050 | 290/18723 | 6.58e-06 | 2.40e-04 | 36 |
GO:004563711 | Stomach | CAG with IM | regulation of myeloid cell differentiation | 28/1050 | 210/18723 | 1.84e-05 | 5.64e-04 | 28 |
GO:190370611 | Stomach | CAG with IM | regulation of hemopoiesis | 41/1050 | 367/18723 | 2.08e-05 | 6.09e-04 | 41 |
GO:00421101 | Stomach | CAG with IM | T cell activation | 49/1050 | 487/18723 | 5.44e-05 | 1.37e-03 | 49 |
GO:00071591 | Stomach | CAG with IM | leukocyte cell-cell adhesion | 40/1050 | 371/18723 | 5.82e-05 | 1.44e-03 | 40 |
GO:005170111 | Stomach | CAG with IM | biological process involved in interaction with host | 26/1050 | 203/18723 | 7.20e-05 | 1.74e-03 | 26 |
GO:00512511 | Stomach | CAG with IM | positive regulation of lymphocyte activation | 39/1050 | 362/18723 | 7.28e-05 | 1.75e-03 | 39 |
GO:00508701 | Stomach | CAG with IM | positive regulation of T cell activation | 27/1050 | 216/18723 | 8.04e-05 | 1.88e-03 | 27 |
GO:007133311 | Stomach | CAG with IM | cellular response to glucose stimulus | 21/1050 | 151/18723 | 1.08e-04 | 2.33e-03 | 21 |
GO:00026961 | Stomach | CAG with IM | positive regulation of leukocyte activation | 42/1050 | 409/18723 | 1.16e-04 | 2.50e-03 | 42 |
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 |